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Copyright, 1996 © Dale Carnegie & Associates, Inc.
Omphalocele
Origin from the Greek word
“Omphalos” meaning “center of the
world”
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Introduction
Abdominal Wall defects 3 subtypes
Gastroschisis Omphalocele Hernia of the umbilical cord
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Introduction
Integrity of the fetal abdominal wall
development depends on
appropriate craniocaudal and
lateral infolding of the embryonic
disk.
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Introduction
The migration and fusion of the
cranial, caudal and lateral folds
normally result in an intact
umbilical ring by 5 weeks
gestation.
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Introduction
Partial or complete arrest of this
process is believed to result in
omphalocele.
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Introduction
Failure of migration and fusion of the lateral abdominal folds is associated with the formation of a central abdominal omphalocele with insertion of the umbilical cord onto the central omphalocele sac with a surrounding fascial defect.
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Omphalocele
Defect is covered by a surrounding membrane (peritoneum and amnion)
Umbilical cord inserts into the sac Typically contain bowel and/or
liver, stomach and spleen
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Types of Omphalocele
Central - failure of fusion of lateral
folds
Epigastric - failure of fusion of
lateral and cephalic folds
Hypogastric - failure of fusion of
caudal and cephalic folds
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Omphalocele
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California Birth Defects Monitoring Program
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Comparison
OMPHALOCELE 1:4,000 to 10,000 Covering sac present Cord onto sac Herniated bowel
normal NEC if sac ruptured Failure of migration
and fusion of folds wk 3 to 5
Anomalies 45 to 55 % Survival 20%/70%
GASTROSCHISIS 1:20,000 to 30,000 Covering sac absent Cord onto abdominal
wall Bowel edematous,
matted NEC 18% Failure of return of
midgut to abdomen by wk 10
Anomalies 10 to 15% Survival 70-90%
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Omphalocele
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Gastroschisis
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Associated GI Anomalies Midgut volvulus Meckel diverticulum Intestinal atresia Intestinal duplication Malrotation
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Giant Omphalocele
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Chromosomal Anomalies Amniocentesis is indicated when
an omphalocele is identified in a fetus, because approximately 30 percent of fetuses with an omphalocele have a chromosome abnormality.
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Chromosomal Anomalies The most common chromosomal
abnormalities are Trisomy 18 Trisomy 13 Trisomy 21 Turner syndrome (45, X) Triploidy
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Chromosomal Anomalies Fibrochondrogenesis Amnion rupture sequence Carpenter syndrome CHARGE association Duplication 3q syndrome Fryns syndrome Hydrolethalus syndrome Killian/Teschler-Nicola syndrome Marshall-Smith, Meckel-Gruber, Melnick-
Needles, Miller-Dieker, Oto-Palato-Digital II.
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Associated Anomalies
Another syndrome that may be
associated with an omphalocele is
Beckwith-Wiedemann syndrome.
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Beckwith Wiedemann Syndrome
The cardinal features of this disorder are Exomphalos, Macroglossia, and Gigantism in the neonate.
This was the origin of the initialism EMG syndrome, used earlier as the preferred designation.
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Beckwith Wiedemann Syndrome Associated features - gigantism,
macroglossia, visceromegaly. Developmental abnormalities - Wilms tumor,
congenital heart defects, hemihypertrophy Inheritance - may be AD but expressed only
in individuals who inherit it from their mother. Caused by mutation at 11p15.5
Pathogenesis of the disease - involves deregulation of imprinted genes in the region
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Genetics of BWS
Expression of an allele depends on its parental origin.
Disease can occur if the normally expressed allele is absent or mutated: Deletion Uniparental disomy Chromosome rearrangement Mutation which leads to loss of
expression
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Beckwith-Wiedemann Syndrome Macrosomia, large muscle mass, accelerated
bony maturation Macroglossia, prominent eyes, large fontanels,
prominent occiput Linear fissures lobule of external ear,
indentations on posterior rim of helix Large kidneys, medullary dysplasia Pancreatic hyperplasia with excess of islets Focal adrenocortical cytomegaly Polycythemia, hypoglycemia, cryptorchidism,
isolated cardiomegaly, diaphragmatic eventration
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6 month old infant
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Beckwith-Wiedemann Syndrome Hepatomegaly, hemihypertrophy Adrenal carcinoma, Wilm’s tumor Gonadoblastoma, hepatoblastoma,
large ovaries, hyperplastic uterus and bladder, bicornuate uterus, hypospadias
Immunodeficiency Cardiac hamartoma, focal
cardiomyopathy
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Exstrophy of Cloaca Sequence Incomplete closure of caudal and
lateral folds Cloacal or bladder exstrophy Hypogastric omphalocele Vesicointestinal fissure,
imperforate anus, colonic agenesis
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???
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Omphalocele
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Associated Anomalies
Pentalogy of Cantrell Failure of closure of lateral and
cephalic folds Sternal defect (cleft sternum) Diaphragmatic defect (anterior
midline) Pericardial defect (absence) Abdominal wall defect (omphalocele) Cardiac anomaly (ectopia cordis)
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Associated Anomalies
Other anomalies are identified in
approximately 67 to 88 percent of
fetuses with an omphalocele.
The prognosis of the fetus often
depends on the presence of
associated anomalies.
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Gastroschisis
Small abdominal wall defect, lateral to the umbilicus
Umbilical cord attached to abdominal wall to the left of defect
No limiting sac, viscera often limited to small intestine and ascending colon
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Gastroschisis
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Gastroschisis
Ischemic compromise due to compression of mesenteric blood vessels when defect is small
Serositis and serosal peel result from amniotic fluid exposure
Ischemic changes and atresia are late events related to mesenteric constriction
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Hernia of the Umbilical Cord Occurs later in gestation At 8 to 11 weeks, normal
contracture of the umbilical ring occurs
Accompanied by return of the midgut to the abdominal cavity
Failure of umbilical ring contracture
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Hernia of the Umbilical Cord
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Hernia of the Umbilical Cord Small fascial defect, less than 4 cm An intact umbilical ring Generally, only small intestinal
herniation
Low cord clamping can cause
intestinal injury (small defect, failure
to appreciate herniated intestine)
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Management Advances in obstetric ultrasound have
allowed the diagnosis of abdominal wall defects in utero
Karyotype analysis when appropriate A large omphalocele, a syndrome- associated
omphalocele, Trisomy syndromes, or severe associated anomalies allows counseling for termination of pregnancy
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Management
In addition, prenatal diagnosis
improves management by allowing
maternal transport for labor and
delivery at a tertiary center
PLAN AHEAD
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Management
These infants have excessive heat, fluid and protein losses which must be replaced
Increased risk of contamination because of the absence of a protective barrier
Complete physical examination Attention to euglycemia Call the friendly neighborhood
surgeons
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Management Primary repair of ventral wall defect
with complete reduction Staged reduction of herniated viscera
large defects containing liver and intestine
Skin-flap closure without ventral wall repair multiple complex congenital anomalies
Nonsurgical methods uncorrectable congenital anomalies
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Umbilical scar after repair of Omphalocele