Omphalocele

Origin from the Greek word

Omphalos meaning center of the
world

Copyright, 1996 Dale Carnegie &

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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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Omphalocel
e
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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, MelnickNeedles, 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, Wilms 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

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