embryology - medical school...
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Embryology the anatomic basis of fetal medicine
Jan 30 ,2013
Molecular mechanisms
Classic anatomic embryology
Correlation with prenatal and postnatal findings
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Overview of Developmental Periods
• Week 1- ovulation to implantation• Week 2 – bi-laminar germ disk• Week 3 – tri-laminar germ disk• Week 4 to 8- embryonic period
• 3rd month to birth – fetal period– Subsequent lectures will discuss specific
tissue /organ development
FOCUSfor today
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Consequences of
• Mis-programming – errors in genetic code– i.e. consequences of trisomy 13,18,21
• Early developmental errors-– different than late? Does mal-development of
one system predispose another to same? – i.e. VACTERL association
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Terminology• Week 1 - ovulation to implantation
– Blastomeres / morula/ blastocyst – Trophoblast / embryoblast
• Week 2 - bilaminar germ disk– Endometrial embedding- development of placenta– Establishment of uteroplacental circulation by day 13– Embryoblast – forms bilaminar germ disk and amniotic
cavity lining develops• Week 3 - trilaminar germ disk
– Gastrulation – formation 3 germ cell layers– Establishment of body axes
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Initial cleavage/mitosis-------forms Blastomere --------- Morula
Week one: ovulation to implantation
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This is only 27 units/cells!!!
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Monozygotic TwinsAberrancies in cleavage process
Completely separated after 2-cell stage – two chorions, two amnions
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Monozygotic TwinsAberrancies in cleavage process
Separation of inner cell massat later stages of development-resulting in common placenta -common chorionic cavity- mono-chorionic
Separate amnion( di- amnion) – common amnion (mono –amnion)
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Dichorionic,diamnioticmembranes
Monochorionic diamniotic membranes
MonochorionicMonoamniotic membranes
Which twins are at risk for Twin-twinTransfusion syndrome?
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Di-chorionic,Di-amnioticmembranes
Mono-chorionic di-amniotic membranes
Mono-chorionicMono-amniotic membranes
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the Morula enters uterine cavity- and forms the blastocystby day 9
Trimester 2Trimester 1 Trimester 3
Trophoblast
Embryoblast+
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Day 12 – further embedding into endometrium
Trimester 2Trimester 1 Trimester 3
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Day 13: Established uteroplacental circulationBilaminar disk stage
Week 2
Future umbilical cord
Trimester 2Trimester 1 Trimester 3
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Gastrulation:Development of tri-laminar disk
Derivation of the three germ cell layers
Week 3
Epiblast cells invaginate to form mesoderm
Trimester 2Trimester 1 Trimester 3
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Gastrulation:Development of tri-laminar disk
Derivation of the three germ cell layers
Establishment of body axesLooking onto ectoderm from above
Week 3
Fate map for epiblast cellspm: paraxial mesoderm= somites Im: intermed mesoderm= urogenital system,Lpm:lateral plate mesoderm= lateral body wall, eem:extraembryonic meso= chorion
Trimester 2Trimester 1 Trimester 3
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Teratogenesis
– Holoprosencephaly: injury to anterior midline of germ disk-
alcohol exposure / via SHH gene? – Caudal dysgenesis - Injury to caudal
end of disk ––– Situs inversus – error in right/left
patterning - ? Role of cilia– Sacrococcygeal tumors – arise from
remnants of primitive streak.– Conjoined twins – partial splitting of
primitive node
Holoprosencephaly with fusion of the eyes.Single nasal chamber
Examples of failures at gastrulation
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Teratogenesis • Examples of failures at gastrulation
– Holoprosencephaly: alcohol exposure –injury to anterior midline of germ disk
– Caudal dysgenesis –• Injury to caudal end of disk
Example: 22-week fetus. The lower portion of the body is small compared with the midbody and chest. The lower extremities (arrows) appear abnormally extended and atrophied. Structures above the level of L3 and intracranial anatomy appear normal.
Source:radiology.rsnajnls.org/cgi/content/full/230/1/229
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Teratogenesis• Examples of failures at
gastrulation– Situs inversus – error in right/left
patterning - ? Role of cilia-– Sacrococcygeal tumors – arise
from remnants of primitive streak.– Conjoined twins – partial
splitting of primitive node
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Teratogenesis• Examples of failures at
gastrulation– Sacrococcygeal tumors – arise from
remnants of primitive streak.– Conjoined twins – partial splitting of
primitive node
Images-fetal treatment center CHOP
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Teratogenesis• Examples of failures at gastrulation
– Conjoined twins – partial splitting of primitive node
http://library.med.utah.edu/WebPath/PEDHTML/PED022.html
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The embryonic period• Ectoderm, mesoderm and endoderm give rise to
specific tissues and organs
Trimester 2 Trimester 3Wk 4-8
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Germ Cell Derivatives
• Ectoderm –– neural system, skin and appendages that relate to
external environment (eyes, ears…)• Mesoderm –
– musculoskeletal tissues, genitourinary system, body wall and membranes lining the cavities
• Endoderm –– foregut, midgut and hindgut – GI tract and
appendages (liver, pancreas) respiratory tract, bladder
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The embryonic period
• Complex set of folding patterns, cell migrations give rise to embryo structure/form
Transverse axis view
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View along longitudinal axis (head – tail)
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Specific embryology
• Development of – 1) the body cavities- thoracic/abdominal– 2) the respiratory system– 3) the GI tract– 4) the urogenital system
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Ventral Body Wall Defects• Failure of in-folding or incomplete development of
component tissues
Consequences of failure:……
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Gastroschisis
Herniation of bowel through defect in abdominal wall – always to the right of umbilicus-Exposed intestine
Omphalocele
Herniation through umbilical ringintestine covered by membrane
Question: Is it ever normal to see intestine outside the confines of the abdominal wall?
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thorax
Abdomen and pelvis
diaphragm
What we take for granted – separation of chest from abdomen
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Pleuro-peritoneal separation and development of the diaphragm
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Congenital diaphragmatic herniaaka Posterolateral / Bochdalek hernia
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Prenatal counseling prepares parents for this possible scenarioBut not every baby with a diaphragm defect requires this…..
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Morgagni Hernia – anterior defect in diaphragm
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We expect swallowing and breathing to be achieved through two parallel conduits
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Development of Respiratory System
25 days 5 week embryo
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Tracheo-esophageal separation
hea
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Failure of tracheo-esophageal separation
Which one(s) mightyou be able to dx prenatally?
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Broncho-alveolar development
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Pulmonary agenesis-If bronchioles don’t grow-Lung parenchyma doesn’t grow
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Pulmonary agenesis-If bronchioles don’t grow-Lung parenchyma doesn’t grow
Cystic adenomatoid malformationProliferation of bronchioles, not alveoli- abnormal sac of lung tissue
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Pulmonary agenesis-If bronchioles don’t grow-Lung parenchyma doesn’t grow
Cystic adenomatoid malformationProliferation of bronchioles, not alveoli
Pulmonary sequestrationSeparate piece of lung –not connected to Tracheobronchial treeAortic blood supply
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Pulmonary agenesis-If bronchioles don’t grow-Lung parenchyma doesn’t grow
Cystic adenomatoid malformationProliferation of bronchioles, not alveoli
Congenital lobar emphysemaAbsent musculature on bronchusResults in hyperinflation
Pulmonary sequestrationSeparate piece of lung –not connected to Tracheobronchial treeAortic blood supply
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Other lesions
Bronchogenic CystDiverticulum of tracheobronchial treew/o associated pulmonary parenchyma
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Other lesions
Bronchogenic CystDiverticulum of tracheobronchial treew/o associated pulmonary parenchyma
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Gastrointestinal tract1. Defects in the continuity of the intestine
Some are consequences of failures of normal developmentalprocesses
Some are accidents of nature when development has been fine
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Gastrointestinal tract1. Defects in the continuity of the intestine
Some are consequences of failures of normal developmentalprocesses
Some are accidents of nature when development has been fine
Does this make a difference in what you expect the incidence of associated anomalies to be????
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Gastrointestinal tract
Duodenal atresia/ stenosis: trisomy 21.
cardiac defects, multiple atresias
Jejunoileal atresia:No association with Genetic disorders or
Other organ involvement
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Gastrointestinal tract2. Defects in the rotation of the intestine
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Gastrointestinal tract2. Defects in the rotation of the intestine
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Gastrointestinal tract2. Defects in the rotation of the intestine
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Gastrointestinal tract
• Defects in innervation
Hirschsprung’s disease
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Impact for fetal medicine
• Embryology:– Provides understanding of a given anomaly– Prompts us to consider organ defects in organs
forming at same time– Allows us to search for genetic basis of disorders– Allows us to prepare parents for what the may need
to expect postnatally even if not evident prenatally
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References