normal pregnancy and birth defects
DESCRIPTION
HuWenSheng Women’s Hospital School of Medicine Zhejiang University. Normal pregnancy and birth defects. Normal Pregnancy-- Terminology. Pregnancy The course that the embryo and the fetus grow in the maternal body Stages of pregnancy Early pregnancy: ≤12 weeks - PowerPoint PPT PresentationTRANSCRIPT
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Normal pregnancy and birth defects
HuWenSheng
Womenrsquos Hospital
School of Medicine
Zhejiang University
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Normal Pregnancy-- Terminology
Pregnancy
The course that the embryo and the fetus grow in the maternal body
Stages of pregnancy
1 Early pregnancy le12 weeks
2 Mid pregnancy ge13 weeksle27 weeks
3 Late pregnancyge28 weeks
4 Term pregnancyge37 weekslt42 weeks
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Part I
Physiology of Pregnancy
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Formation of Embryo
Fertilization
1 Place oviduct (ampulla)
2 Process
capacitation rarr acrosome reactionrarr penetrate the zona pellucidararr second meiosis rarrzygote
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Formation of Embryo
Implantation
1 requirement
1) Disappear of zona pellucida
2) Formation of syncytiotrophoblast
3) Synchronized development of blastocyst and endometrium
4) Adequate progesterone
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Formation of Embryo
2 Process
1) morula (day 3) rarr enter uterine cavity (day 4) rarr early blastocystrarr late blastocyst (day 6-7) rarr implantation
2) locationrarr adherencerarr penetration
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Development of embryo and fetus
Definition
1 embryo le 8 weeks
2 Fetus ge 9 weeks human shape
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Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
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Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
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Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
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Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
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Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
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Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
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Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
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Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
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Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
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Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
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Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
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Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
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Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
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Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
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Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
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Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
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Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
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Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
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The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
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Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
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Part Ⅱ
Diagnoses of Pregnancy
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Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
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Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
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Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
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Secondary breast
Breast Enlargement
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Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
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Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
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Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
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Presumptive signs
Increased basal body temperature (gt18 days)
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bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
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Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
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Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
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Lie of fetus
Longitudinal lie Transverse lie
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Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
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Fetal presentation
Cephalic presentationVertex Face Brow
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Fetal presentation
Breech presentation
Complete Incomplete frank
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胎先露最先进入骨盆入口的胎儿部分
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Fetal position
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胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
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胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
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Part Ⅲ
Antenatal care
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Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
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Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
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External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
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Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
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External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
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External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
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External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
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External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
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Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
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Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
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Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
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History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
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Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
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Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
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Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
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Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
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Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
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Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
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Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
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Manning 评分
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
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Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
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Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
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What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
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Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
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WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
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Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
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4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
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This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
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(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
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Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
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Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
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Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
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Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
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Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Normal Pregnancy-- Terminology
Pregnancy
The course that the embryo and the fetus grow in the maternal body
Stages of pregnancy
1 Early pregnancy le12 weeks
2 Mid pregnancy ge13 weeksle27 weeks
3 Late pregnancyge28 weeks
4 Term pregnancyge37 weekslt42 weeks
浙大医学院附属妇产科医院产科
Company LOG
Part I
Physiology of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
Fertilization
1 Place oviduct (ampulla)
2 Process
capacitation rarr acrosome reactionrarr penetrate the zona pellucidararr second meiosis rarrzygote
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
Implantation
1 requirement
1) Disappear of zona pellucida
2) Formation of syncytiotrophoblast
3) Synchronized development of blastocyst and endometrium
4) Adequate progesterone
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
2 Process
1) morula (day 3) rarr enter uterine cavity (day 4) rarr early blastocystrarr late blastocyst (day 6-7) rarr implantation
2) locationrarr adherencerarr penetration
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Definition
1 embryo le 8 weeks
2 Fetus ge 9 weeks human shape
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
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Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
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Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
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Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
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Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
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Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
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Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
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Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
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Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
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Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
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Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
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Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
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Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
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Company LOG
Lie of fetus
Longitudinal lie Transverse lie
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Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
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Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
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Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
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Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
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Company LOG
Manning 评分
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Part I
Physiology of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
Fertilization
1 Place oviduct (ampulla)
2 Process
capacitation rarr acrosome reactionrarr penetrate the zona pellucidararr second meiosis rarrzygote
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
Implantation
1 requirement
1) Disappear of zona pellucida
2) Formation of syncytiotrophoblast
3) Synchronized development of blastocyst and endometrium
4) Adequate progesterone
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
2 Process
1) morula (day 3) rarr enter uterine cavity (day 4) rarr early blastocystrarr late blastocyst (day 6-7) rarr implantation
2) locationrarr adherencerarr penetration
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Definition
1 embryo le 8 weeks
2 Fetus ge 9 weeks human shape
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
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Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
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Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
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Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
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Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
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- Slide 60
- Slide 70
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Company LOG
Formation of Embryo
Fertilization
1 Place oviduct (ampulla)
2 Process
capacitation rarr acrosome reactionrarr penetrate the zona pellucidararr second meiosis rarrzygote
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
Implantation
1 requirement
1) Disappear of zona pellucida
2) Formation of syncytiotrophoblast
3) Synchronized development of blastocyst and endometrium
4) Adequate progesterone
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
2 Process
1) morula (day 3) rarr enter uterine cavity (day 4) rarr early blastocystrarr late blastocyst (day 6-7) rarr implantation
2) locationrarr adherencerarr penetration
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Definition
1 embryo le 8 weeks
2 Fetus ge 9 weeks human shape
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
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Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
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Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
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Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
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Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
Implantation
1 requirement
1) Disappear of zona pellucida
2) Formation of syncytiotrophoblast
3) Synchronized development of blastocyst and endometrium
4) Adequate progesterone
浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
2 Process
1) morula (day 3) rarr enter uterine cavity (day 4) rarr early blastocystrarr late blastocyst (day 6-7) rarr implantation
2) locationrarr adherencerarr penetration
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Definition
1 embryo le 8 weeks
2 Fetus ge 9 weeks human shape
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Formation of Embryo
2 Process
1) morula (day 3) rarr enter uterine cavity (day 4) rarr early blastocystrarr late blastocyst (day 6-7) rarr implantation
2) locationrarr adherencerarr penetration
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Definition
1 embryo le 8 weeks
2 Fetus ge 9 weeks human shape
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Definition
1 embryo le 8 weeks
2 Fetus ge 9 weeks human shape
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
Physiology of fetus
1 Circulation
1) fetus larrrarrplacentalarrrarr mater
2) 1 umbilical vein (full of oxygen) 2 umbilical artery (lack of oxygen)
3) Mixed blood (vein and artery)
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
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- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2 Hematology
1) Erythropoiesis
From yolk sac 3 weeks
From liver 10 weeks
From bone marrow and spleen term (90)
EPO production 32nd week
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
2) Fetal hemoglobin
Fetal hemoglobin early pregnancy
Adult hemoglobin 32nd week
Term fetal type Hb 25
3) White cells
Leukocytes 8 week
Lymphocytes (antibody production) 12 week thymus and spleen
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
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Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
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Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
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Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
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Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
3 Gastrointestinal tract
1) drink amniotic fluid 4th month
2) no proteolytic activity
3) enzymatic deficiencies in liver
bilirubin is not easy to be clear
浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Development of embryo and fetus
4 Kidney Its function begins at 11-14th week
5) Endocrinology6) Fetal thyroid the first endocrine gland (6th week)
synthesize thyroxine at 12th week7) Fetal adrenal cortex widen (20th week) a fetal zone
synthesize steroid hormones (E3 liver placenta mater)
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Placenta
Structure
1 Primary villus
syncytiotrophoblast cytotrophoblast
2 Secondary villus
3 third class vilus
fetal capillary enter the stroma
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
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- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Placenta
Function
1 metabolism
1) Exchange of O2 and CO2
2) Exchange of nutritive factors and waste
2 Defensive
Limited IgG virus drug
浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Placenta
3 Endocrine
1) HCG
2) HPL
3) E
4) P
5) Oxytocinase
6) Cytokines and Growth Factors
4 Immunity tolerance
浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Fetal membranes
Structure
chorion and amnion
Amnion
A double-layered translucent membrane
Become distended with fluid
浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Umbilical Cord
Structure
amnion yolk sac one vein two artery and Wharton jelly
Length
30-70cm
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Source
1 exudation of fetal membranes (early pregnancy)
2 Fetal urine
3 Fetal lung
4 Exudation of amnion and fetal skin
浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Amniotic fliud
Absord
1 Fetal membrane
2 Umbilical cord
3 Fetal skin
4 Fetal drinking
Feature
1000-1500ml at 36th-38th week (peak) transparent rarr slightly turbid
浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG
Amniotic Fliud
Function
1 Protect fetal
move freely warm
2 Protect mater
prevent infection
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
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Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
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Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
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Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
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Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
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Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
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Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
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Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Genital organs
1 Uterus
1) capacity 5ml-5000mlweight 50g-1000g
2) Hypertrophy of muscle cells
3) Endometriumrarrdecidua basal decidua capsular decidua true decidua
4) Contraction Braxton Hicks
5) Isthmus uteri 1cmrarr 7-10cm
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
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Company LOG
Part Ⅱ
Diagnoses of Pregnancy
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Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
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Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
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Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
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Company LOG
Secondary breast
Breast Enlargement
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Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
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Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
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Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
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Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
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Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
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Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
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Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
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Company LOG
Lie of fetus
Longitudinal lie Transverse lie
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Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
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Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
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Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
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Company LOG
胎先露最先进入骨盆入口的胎儿部分
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Company LOG
Fetal position
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Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
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Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
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Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
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Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
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Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
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External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
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Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
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Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
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Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
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Company LOG
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Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
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Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
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Manning 评分
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
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Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
6) Cervix colored
7) Ovary placenta replaces ovary (10th week)
8) Vagina dilated and soft pHdarr(anti-bacteri bacteria)
9) Ligaments relaxed
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Physiologic changes in pregnant woman
Cardiovascular system
1 Heart
move upward hypertrophy of cardiac muscle
2 Cardiac Output
increase by 30 reach to peak at 32nd ndash34th week
3 Blood pressure
early or mid pregnancy Bpdarrlate pregnancy Bpuarr Supine hypotensive syndrome
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Hematology1 Blood volume1) Increase by 30-45 at 32nd ndash34th (peak)2) Relatively diluted
2 Composition1) Red cells Hb130rarr110gL HCT38rarr 312) White cells slightly increase3) Coagulating power of blood uarr 4) Albumin darr35 gL
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The Respiratory system
1 R rate slightly uarr2 vital capacity no change
3 Tidal volume uarr 40
4 Functional residual capacitydarr
5 O2 consumption uarr 20
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
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Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
The urinary system
1 Kidney
1) Renal plasma flow (RFP)uarr35
2) Glomerular filtration rate (GFR)uarr 50
2 Ureter
Dilated (Puarr)
3 Bladder
Frequent micturation
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
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Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Gastrointestinal system
1) Gastric emptying time is prolongedrarr nausea
2) The motility of large bowel is diminished rarr constipation
3) Liver function unchanged
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG Physiologic changes in pregnant woman
Endocrine
1 Pituitary (hypertrophy)
1) LHFSH darr2) PRLuarr3) TSH and ACTHuarr2 Thyroid
1) enlarged (TSH and HCGuarr)
2) thyroxineuarr and TBGuarr rarr free T3 T4 unchanged
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅱ
Diagnoses of Pregnancy
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Amenorrhea strongly suggestive of pregnancy
Nausea and vomitingMorning sickness of pregnancy
Results from rapidly rising serum levels of HCG (human chorionic gonadotropin)
Begin at 4 weeks and finish at 12 weeks
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Pelvic organsChadwickrsquos sign vaginal mucosa has bluish color (6-8w)
Goodellrsquos sign cyanosis and softening of cervix(6w)
Hegarrsquos sign softening between cervix and uterine fundus causes a sensation of separateness between these two structures
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Breast changesTenderness and tingling
Enlargement (second month )
Nodularity (sebaceous glands)
Colostrums secretion (begin after 16 w gestation)
Secondary breasts (Axillary breast tissue often cause a symptomatic lump in the axilla)
浙大医学院附属妇产科医院产科
Company LOG
Secondary breast
Breast Enlargement
浙大医学院附属妇产科医院产科
Company LOG
Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
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Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
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Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
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Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
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Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
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Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
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Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
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First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
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Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
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- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
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- Slide 70
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Secondary breast
Breast Enlargement
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Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
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Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
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Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
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Presumptive signs
Increased basal body temperature (gt18 days)
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bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
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Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
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Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
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Lie of fetus
Longitudinal lie Transverse lie
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Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
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Fetal presentation
Cephalic presentationVertex Face Brow
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Fetal presentation
Breech presentation
Complete Incomplete frank
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胎先露最先进入骨盆入口的胎儿部分
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Fetal position
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胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
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胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
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Part Ⅲ
Antenatal care
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Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
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Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
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External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
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孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
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External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
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External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
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External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
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External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
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Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
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Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
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Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
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History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
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Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
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Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
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Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
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Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
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Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
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Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
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Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
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Manning 评分
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
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Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
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Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
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What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
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Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
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WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
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Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
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4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
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This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
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(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
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Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
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Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
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Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
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Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
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Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
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Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
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Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
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Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
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First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
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Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
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- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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Presumptive Symptoms
Urinary tract Frequent urination and nocturia
Infection
Quickening 16-20weeks in primigravidas
14-16 weeks in multigravidas
Fatigue one of the earliest symptoms of pregnancy
returns to normal by the 16th to 18th week
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Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
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Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
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Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
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bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
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Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
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Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
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Lie of fetus
Longitudinal lie Transverse lie
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Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
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Fetal presentation
Cephalic presentationVertex Face Brow
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Fetal presentation
Breech presentation
Complete Incomplete frank
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胎先露最先进入骨盆入口的胎儿部分
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Fetal position
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胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
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胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
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Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
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Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
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Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
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External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
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External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
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External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
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External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
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External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
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Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
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Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
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Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
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Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
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Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
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Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
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Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
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浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
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Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
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Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
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Manning 评分
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
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Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
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Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
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What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
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Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
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WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
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Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
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4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
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This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
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Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
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Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
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Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
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Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
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Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
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Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
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Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
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First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
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Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
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Presumptive signs
Skin changes
Chloasmadarkening of the skin over forehead bridge of the nose and cheekbones
Linea nigra darkening of the nipples and lower midline of abdomen
Stretch marks separation of the underling collagen tissue and appear as irregular scars
Spider telangiectases
浙大医学院附属妇产科医院产科
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Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
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Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
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bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
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Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
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Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
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Lie of fetus
Longitudinal lie Transverse lie
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Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
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Fetal presentation
Cephalic presentationVertex Face Brow
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Fetal presentation
Breech presentation
Complete Incomplete frank
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胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
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Fetal position
浙大医学院附属妇产科医院产科
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胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
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- Slide 60
- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Pregnancy test
Urine pregnancy test Positive around the first missed cycle
Serum pregnancy test more sensitiveHCG may be detected in maternal serum in 7 days
浙大医学院附属妇产科医院产科
Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
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Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
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Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
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First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
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Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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Company LOG
Presumptive signs
Increased basal body temperature (gt18 days)
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Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
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Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
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Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
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Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
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Company LOG
Lie of fetus
Longitudinal lie Transverse lie
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Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
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Fetal presentation
Cephalic presentationVertex Face Brow
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Fetal presentation
Breech presentation
Complete Incomplete frank
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胎先露最先进入骨盆入口的胎儿部分
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Fetal position
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胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
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胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
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浙大医学院附属妇产科医院产科
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Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
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External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
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External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
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External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
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External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
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External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
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Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
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Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
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Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
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Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
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Company LOG
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Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
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Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
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Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
bull Ultrasound examination of fetus is one of the most useful technical way
bullCervical mucus examination
bullProgestational challenge
Positive manifestations
浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
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Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
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External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
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External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
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External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
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Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
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Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
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Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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浙大医学院附属妇产科医院产科
Company LOG
Probable Signs
Abdominal enlargement(the uterus rises out of the pelvis
and into the abdomen)
Uterine contractions (Braxton hicks contractions)
浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Ballottement (16-20w)Uterine souffle
It may be more easily accomplished by a vaginal examination
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Positive manifestations
Fetal heart tone
(120-160 BPM)
Doppler device can detect at 10 weeks
浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
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胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
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浙大医学院附属妇产科医院产科
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Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
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Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
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Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
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External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
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External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
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External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
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External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
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Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
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Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
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Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
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Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
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Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
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Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
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Manning 评分
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
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Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
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Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
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What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
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Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
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Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
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Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
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Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
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Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
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Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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浙大医学院附属妇产科医院产科
Company LOG
Lie of fetus
Longitudinal lie Transverse lie
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Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
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Fetal presentation
Cephalic presentationVertex Face Brow
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Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
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Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Determined by the portion of the fetus that can be felt through the cervixCephalic presentations
Classified according to the position of the fetal head in relation to the body of the fetus
Breech presentations
Classified according to the position the legs and buttocks which present first
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Cephalic presentationVertex Face Brow
浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
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胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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浙大医学院附属妇产科医院产科
Company LOG
Fetal presentation
Breech presentation
Complete Incomplete frank
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
胎先露最先进入骨盆入口的胎儿部分
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Fetal position
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系
枕左后（ LOP)
枕右后（ ROP)
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
胎方位胎儿先露部的指示点与母体骨盆的关系胎方位胎儿先露部的指示点与母体骨盆的关系
骶右后（ RSP)
肩右前（ RScA)
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Part Ⅲ
Antenatal care
浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Prenatal care
Routine prenatal care Every 4 weeks during the first 28 weeks of gestation
Every 2 weeks from 28 to 36 weeks
Weekly from 36 weeks to delivery
浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
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Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Initial VisitInitial Visit
History
health history
childbearing
history
Estimated date
of confinement
(EDC ）
Physical examination
General
examination
obstetric
examination
Accessory examination
Laboratory Tests USExamination of cytogenetics
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
General history
Previous and current medical
disease
Diabetes chronic hypertension
Medication Previous surgeries
Blood transfusion history
Family history
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
Initial VisitInitial Visit
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
Past pregnanciesEGA at the time of delivery or abortion
Fetal outcome
Mode of delivery vaginal or cesarean section
Complications GDM preeclampsia
Present pregnancy
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
History
health history
childbearing history
Estimated date of
confinement (EDC)
Physical examination
Accessory
examination
the last normal menstrual period
Subtract 3 from (or add 9 to) the month
of the last normal menstrual period and
add 7 to the first day of the last normal
menstrual period 减 3 加 7 （农历加 15 ）US may be used if the LMP is
uncertain
Initial VisitInitial Visit
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
Height weight and blood pressure should be recorded
Systolic flow murmur at the left sternal border
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
Initial VisitInitial Visit
History
Physical examination
General examination
obstetric examination
Accessory examination
病史
Fundal height
Abdominal examination
Fetal heart tones
Edema 一般情况
检查
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Leopold maneuvers
Palpation of fetus (22 weeks)
Leopold Maneuver to determine the fetal presentation
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
Pelvic examinationPelvic examination
)
Assessment of pelvic soft
tissue cervix and uterine
Bony pelvis
external pelvimetry
internal pelvimetry
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
孕妇取伸腿仰卧位两髂前上棘外缘的距离 正常值为 23-26cm
髂棘间径髂棘间径Interspinal diameter (IS)
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG External pelvimetry
孕妇取伸腿仰卧位测量两髂嵴外缘最宽的距离正常值为 25-
28cm
髂嵴间径 髂嵴间径 Intercristal diameter (IC)Intercristal diameter (IC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
第 5 腰椎棘突下至耻骨联合上缘中点的距离正常值为 18-2Ocm
骶耻外径 骶耻外径 External External conjugateconjugate (EC)(EC)
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
两坐骨结节内侧缘的距离正常值为 85-95cm
坐骨结节间径或称出口横坐骨结节间径或称出口横径 径 Transverse outletTransverse outlet
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
出口后矢状径 出口后矢状径 Posterior sagital Posterior sagital diameter of outletdiameter of outlet
坐骨结节间径中点至骶骨尖端的长度正常值为 8-9cm
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
External pelvimetry
正常值为 90 度小于 80 度为不正常此角度反映骨盆出口横径的宽度
耻骨弓角度 Angle of pubic archAngle of pubic arch
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
对 角 径 Diagonal conjugateDiagonal conjugate为耻骨联合下缘至骶岬上缘中点的距离正常值为 125-13cm 此值减去 15-2m 为骨盆入口前后径长度又称真结合径
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
两坐骨棘间的距离正常值约为 l0cm
坐骨棘间径坐骨棘间径Interspinous diameterInterspinous diameter
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Internal pelvimetry
坐骨切迹宽度坐骨切迹宽度坐骨棘与骶骨下部间的距离即骶棘韧带宽度将阴道内的食指置于韧带上移动若能容纳 3 横指 ( 约 55-6cm) 为正常否则属中骨盆狭窄
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
Initial VisitInitial Visit
History
Physical examination
Accessory examination
Laboratory Tests
Ultrasound examinations
Examination of cytogenetics
Blood screening Blood routine test
Blood type (ABO and RH)
Detect diseases rubella syphilis hepatitis B HIV
Screening test for certain diseases according family history
Diabetes screen
Urinalysis
Infectious disease gonorrhea chlamydia group B streptococcus et al
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG Subsequent visitSubsequent visit
History
Pregmant women examinations
heightabdominal parameterweight et
Fetal examinationsEstimation of fetal weightMonitoring fetal
well Prenatal
diagnosis
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Fetal movement
After 28 weeks patients should be instructed to do fetal kick counts
Normal 30 fetal movements in 12 hours
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
Ultrasound (fetal number presentation viability placental location gestational age and fetal anatomy multiple sonographic markers for aneuploidy screening)
Biophysical profile and Doppler velocimetry
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
External fetal monitoring
Internal fetal monitoring
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG Fetal heart rate interpretation
Baseline Rate Normal 120~160 bpm
Affected by following factors
Gestational age
Fetal status
Maternal fever position drugs
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Periodic changes
Accelerations
Decelerations1048698 Early
1048698 Late
1048698 Variable
Sinusoidal patterns
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Contraction Stress Test
Adequate contraction patternat least 3 contractions of 40 secondsrsquo duration in a 10-minute
period
Negativeno late or significant VD
PositiveLD following 50 or more of contractions
Equivocal-suspiciousintermittent LD or significant VD
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Methods of assessment for fetal at risk
NST
Fetal breathing movements
Fetal movement
Fetal tone
Determination of the amniotic fluid volume
----Biophysical profile
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Manning 评分
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Lung maturity is essential for normal respiration immediately after birth
Assessment by measuring surface-active lipid components of surfactant (lecithin phosphatidyl glycerol)
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Fetal maturity tests
Methods (measuring surface-active lipid components of surfactant )Lecithin Sphingomyelin (L S) Ratio
Phosphatidylglycerol (PG)
Foam stability index (FSI)
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Part Ⅳ
Prenatal Screening Diagnosis and Genetic counseling
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
What is genetic counselling
The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder the probability of developing or transmitting it and of the ways in which this may be prevented avoided or ameliorated
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Genetic Counseling
Is a communication process which deals with the
human problems associated with the occurrence
or the risk of occurrence of a genetic disorder in
a family
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
WHAT DO GENETIC COUNSELORS DO
Provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
Identify families at risk investigate the problem present interpret information about the disorder analyze inheritance patterns and risks of recurrence and review available options with the family
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Referral of Clients
1 Those couples who have had a child with a birth defect or known genetic disorder2 Those who are known to be heterozygous carriers of a specific genetic disease3 Those who have known or suspected inherited disorder in the family and are either contemplating marriage or starting a family
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
4 Those who are experiencing reproductive problems
such as infertility multiple miscarriage or stillbirths
5 Those who are contemplating marriage to relative or an interracial marriage
6 Those with possible exposure to toxic agents illness
or mutagens during peregancy
7 Women 35 years of age and older who are
considering prenatal diagnosis
Genetic counseling is also offered in conjunction with screening programs
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG Components of genetic counseling
(1) Initial interview
(2) Obtaining a history and preparing a pedigree
(3) Establishing diagnosis
(4) Determining and communicating recurrence
risks and discussing the disorder
(5) Follow-up
(6) Evaluation
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
This process involves an attempt by one or more appropriately trained persons to help the individual or family
(1) comprehended the medical facts diagnosis probable
course of the disorder amp available management
(2) appreciate the way heredity contributes to the disorder
and the risk of recurrence in specified relatives
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
(3) understand the options for dealing with the risk of
recurrence
(4) choose the course of action which seems
appropriate to them in view of their risk and their
family goals and act in accordance with that
decision
(5) make the best possible adjustment to the disorder in
an affected family andor to the risk of recurrence of
that disorder
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Prenatal Screening Diagnosis and Treatment
A relatively new field within obstetricsRelated to the advent and advancement of realtime US
Screening select high-risk individuals at risk for a given diagnosis or complication
Diagnosis diagnostic and usually far more specific than screening but bear a greater risk of complications
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Screening for genetic diseases
The diseases are passed genetically from parents to their offspingAutosomal dominant or recessive disease
X-linked disorder
The first step in determining fetal risk is to screen the mother for the diease
Which is ususally done in higher risk groups
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Common genetic diseases
Autosomal dominant or recessive diseaseCystic fibrosis 囊性纤维变性 Sickle-cell disease 镰状细胞 ( 贫血 ) 病Tay-Sachs disease
Thalassemia [θaeligləsimiə] 地中海贫血X-linked disorders
Hemophilia [himəfiliə] 血友病
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Aneuploidy (extra or missing chromosomes)Generally the cause of these syndromes
Obvious phenotypic differences and congenital anomalies not always be detected by prenatal US
Fetal karyotype is the only way to achieve a definitive diagnosis of aneuploidy
Screening test are exist for some syndromes
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Chromosomal abnormalities
Trisomy usually results in early abortion
An infant is occasionally born with trisomy or triploidy and surviveDown syndrome(Trisomy 21)
Trisomy 18
Trisomy 13
浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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浙大医学院附属妇产科医院产科
Company LOG
Sex chromosomal abnormalities
Most common sex chromosome aneuploides45XO turner syndrome monosomy X
47XXY klinefelter syndrome
The most common aneuploidies are those of sex chromosomes They are less severely affected than the autosomal aneuploidies
No screening test for these two syndormes
Diagnosed by prenatal diangosis
浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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浙大医学院附属妇产科医院产科
Company LOG
Fetal congenital anomalies
Primarily arise during embryogenesis but also can progress as development continues
Occur in any organ systemNeural tube Defects spina bifida and anencephaly
Associated with folate deficency and can be screened
Cardiac Defects
Potter Syndrome 家族性白痴病
浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
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- Slide 58
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- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
Indications for prenatal diagnosis
advanced maternal age
previous child with a chromosome abnormality
family history of a chromosome abnormality
family history of single gene disorder
family history of a neural tube defect
family history of other congenital structural abnormalities
abnormalities identified in pregnancy
other high risk factors (consanguinity poor obst history maternal illnesses
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG Methods of prenatal diagnosis
Invasive
Amniocentesis
Chorionic villus sampling
Cordocentesis
Preimplatation genetic diagnosis
Fetoscopy
Non-invasive testing
Maternal serum AFP
Maternal serum screen
Ultrasonography
Isolation of fetal cells from maternal circulation
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Prenatal screening
First trimesterUS Nuchal translucency (NT)
Serum screen HCG+PAPP-A
Second trimesterTriple screen MSAFP estriol andβ-hCG
Quad screen MSAFP estriol β-hCG and inhibinA
US
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
First Trimester
NT (Nuchal translucency)
PAPP-A (pregnancy associated plasma protein-A)
hCG (human chorionic gonadotropin)
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
-
浙大医学院附属妇产科医院产科
Company LOG
Nuchal Translucency
Timing 11-14 wks EGA
NT measurement gt 3 5 mm associated with increased risk ofChromosomal abnormalities
Structural anomalies
SAB SGA stillbirth
Down syndrome detection rate 64-70
浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
- Slide 55
- Slide 56
- Slide 57
- Slide 58
- Slide 60
- Slide 70
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浙大医学院附属妇产科医院产科
Company LOG
- Slide 54
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- Slide 70
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