229688251 omphalocele

OMPHALOKEL

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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