Download - Congenital Anomalies and Teratogens Jun Zhou (周俊) School of Medicine, ZheJiang University 20140106
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Congenital Anomalies and
Teratogens
Jun Zhou(周俊)School of Medicine, ZheJiang University20140106
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Birth defect, congenital malformation and congenital anomaly
Are synonymous terms used to describe structural, behavioral, functional and metabolic disorders present at birth
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Causes of Birth Defects
Genetic/Chromosomal - 15-20%
Environmental (teratogens) - 10-15%
Combined - 20-25%
Multiple Gestations - 1%
Unknown - 40-50%
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Genetic Causes
Molecules that regulate development
Enzymes
Structural genes
Localized to a Chromosome – gene unknown
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Environmental factors (Teratogens)
Infectious agents-virusPhysical agents
X-rays, Hyperthemia, etcChemicals agents
alcohol, Cocaine, etcHormonesMaternal diabetes
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Periods of VulnerabilityPreembryonic period Pregerm (0-2 wks) Usually Death
Embryonic period Organogenesis (3-8 wks) Abnormalities of Form
(malformations)
Fetal period Growth/Maturation (9 wks – birth) Growth Retardation Mental dysfunction
Fetus vulnerable Rapid cell proliferationCell migrationCell differentiation
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Current Methods of Diagnosis
UltraSound/Amniocentesis
Karyotyping Spectral Karyotyping
FISH - translocation/target
PCR of target sequence
RT-PCR - gene expression
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Ultrasound/Amnniocentesis
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Spectral Karyotyping
All 23 chromosome pairs at one time
Different Fluorescent probes
Useful for translocations
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Fluorescent In Situ Hybridization
Chromosome mapping
Identify and localize discrete chromosomal abnomalities
Deletions
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Fluorescent In Situ Hybridization
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PCRUsing 2 small primers (20 bp)25-40 cycles of: Denature Anneal Synthesize
Identify gene expression or mutation
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PCR
Using 2 small primers (20 bp)
25-40 cycles of: Denature Anneal Synthesize
Identify gene expression or mutation
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Human fetal specimens
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uterus
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Fetus, amnion and uterus
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Normal fetus. How old is it?
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Growth in Length and Weight During the Fetal Period
Age(weeks) CRL(cm)
Crown-rump length
Weight(g)
9-12
13-16
17-20
21-24
25-28
29-32
33-36
37-38
5-8
9-14
15-19
20-23
24-27
28-30
31-34
35-36
10-45
60-200
250-450
500-820
900-1300
1400-2100
2200-2900
3000-3400
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Chorion and fetus, amnion
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Chorion and fetus
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Placenta with two umbilical cord
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Placenta with three umbilical cord
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Conjoined twins
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Teratoma
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Anencephaly
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Anencephaly with following meningomyeloecel
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meningomyeloecel
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Malformation of head
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Malformation of head
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Horse shoe-kidney
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Umbilical cord encircles the neck
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A cyst near the ear
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THE END!