CASE REPORT

NJR I VOL 2 I ISSUE 1 I Jan-June, 2012

Gastroschisis and Omphalocele: A Case report

Kayastha P
1
, Paudel S
1
, Ghimire R K
1
, Ansari MA
1
1
Department of Radiology and Imaging, Institute of Medicine, Tribhuvan University
Teaching Hospital, Kathmandu, Nepal



Abstract

Fetal gastroschisis and omphalocele are congenital defects of abdominal wall that are often
diagnosed by prenatal ultrasound done for routine screening or for obstetric indications such
as evaluating an elevated maternal serum alpha fetoprotein (AFP). Prenatal ultrasound could
potentially identify the overwhelming majority of abdominal wall defects and accurately
distinguish omphalocele from gastroschisis. Here we report two cases of gastroschisis and
omphalocele diagnosed at routine prenatal ultrasound.

Keywords: Gastroschisis, Omphalocele, Ultrasonography


Introduction

Omphalocele and Gastroschisis are the two
most common major congenital abdominal
wall defects.
1
Although textbooks group the
two entities together, they are separate and
distinct and have many important differences
in pathology and associated conditions that
explain the differences in treatment plans and
outcomes. Understanding the similarities and
differences between gastroschisis and
omphalocele is essential for patient
management. Gastroschisis is a full-thickness
defect in the abdominal wall usually just to
the right of a normal insertion of the
umbilical cord into the body wall. A variable
amount of intestine and occasionally parts of
other abdominal organs are herniated outside
the abdominal wall with no covering
membrane or sac.
____________________________________
Correspondence to: Dr. Prakash Kayastha
Department of Radiology and Imaging,
Institute of Medicine, TUTH, Kathmandu
Nepal
Email: [email protected]
An omphalocele (also known as exomphalos)
is a midline abdominal wall defect of variable
size, with the herniated viscera covered by a
membrane consisting of peritoneum on the
inner surface, amnion on the outer surface,
and Whartons jelly between the layers. The
umbilical vessels insert into the membrane
and not the body wall. Here we present two
cases, one gastroschisis and another
omphalocele which were diagnosed in
routine antenatal ultrasound.

Case Report

Case 1: A 20 year old primigravida was sent
for routine anomaly scan at 20 weeks of
gestation. She was on regular iron and
calcium and didnt have any major diseases.
Calculated gestational age by
ultrasonography was 19 weeks and 5 days.
On ultrasonography of the abdominal region,
we found defect in the anterior abdominal
wall of the fetus. Bowel loops were seen
herniating into the amniotic cavity and were
floating without any covering membrane
[Fig: 1]. Umbilical cord was seen on the left
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Kayastha et al. Gastroschisis and Omphalocele: A Case report



NJR I VOL 2 I ISSUE 1 I Jan-June, 2012


Fig 1: B mode ultrasonography image
showing abdominal wall defect with
herniation of bowel loops into amniotic
cavity. No covering membrane is seen.


side of the abdominal wall defect (not shown
in figure). Diagnosis of gastroschisis was
made.

Case 2: A 25 year second gravida female
was sent for routine antenatal ultrasound at
27 weeks of gestation. Her last pregnancy
was normal full term hospital delivery 4
years back with delivery of normal healthy
child. She didnt have any major disease and
there was no family history of delivery of
abnormal child. Maternal serum AFP was not
tested. Her calculated gestational age by
ultrasonography was approximately 26 weeks
and 2 days. On scanning of abdomen, there
was large anterior abdominal wall defect in
the midline with herniation of liver and
bowel loops through it. The contents were
covered with a membrane [Fig: 2]. Umbilical
cord was inserted in the center of the
covering membrane. Diagnosis of
omphalocele was made.

There were no other associated anomalies in
both of the fetuses. Amniotic fluid volume
was normal in both cases. The findings were
confirmed in both cases by three other
radiologists with 3 to 15 years of experience
in obstetric ultrasound. Upon counseling,
both women and their family opted for
termination of pregnancy rather than
continuing further. They also denied for

Fig 2: B mode ultrasonography image
showing abdominal wall defect with
herniation of liver and bowel loops into
amniotic cavity. The contents are covered
with a membrane.

karyotyping as it is not easily available in our
country. Pregnancy was terminated and the
findings were confirmed post delivery
[Fig: 3 & 4]. No other associated structural
defects were detected on examination of the
terminated fetuses. However, specimen was
not sent for karyotyping or autopsy.

Discussion

Omphalocele and gastroschisis are the two
most common major congenital abdominal
wall defects.
1
Omphalocele is a midline
anterior abdominal wall defect with extrusion
of abdominal viscera, covered by a
membranous sac, into the base of the
umbilical cord. Gastroschisis is usually a
small defect in the anterior abdominal wall
typically located to the right of the umbilical
ring and resulting in the herniation of the
abdominal contents, without a surrounding
membrane, into the amniotic cavity. Both
malformations are now frequently diagnosed
prenatally using ultrasound scanning.

There are regional differences in the
incidence of abdominal wall defects
however, a rough estimate is that worldwide,
the incidence of gastroschisis ranges between
0.4 and 3 per 10,000 births and seems to be
increasing, whereas the incidence of
omphalocele ranges between 1.5 and 3 per
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NJR I VOL 2 I ISSUE 1 I Jan-June, 2012


Fig 3: Post delivery photograph showing
abdominal wall defect with herniation of
bowel loops and no covering membrane.


Fig 4: Post delivery photograph showing
abdominal wall defect with herniation of
bowel loops and liver covered with a
membrane. Umbilical cord is seen
inserting into the center of the covering
membrane.

10,000 births and is stable.
2-4


In gastroschisis, the incidence of associated
anomalies is between 10% and 20%, and
most of the significant anomalies are in the
gastrointestinal tract.
5
About 10% of babies
who have gastroschisis have intestinal
stenosis or atresia that results from vascular
insufficiency to the bowel at the time of
gastroschisis development or, more
commonly, from later volvulus or
compression of the mesenteric vascular
pedicle by a narrowing abdominal wall ring.
6

Serious associated anomalies outside the
abdomen or gastrointestinal tract, such as
chromosomal abnormalities, are unusual.

In contrast to gastroschisis, patients with
omphalocele have a very high (up to 50%
70%) incidence of associated anomalies. The
incidence of associated anomalies is lower in
liveborn patients because those who have
multiple and serious anomalies are more
likely to be stillborn.
7
Chromosome
anomalies, notably trisomy 13, 14, 15, 18,
and 21, are present in up to 30% of cases.
Cardiac defects are also common, being
present in 30% to 50% of cases. Multiple
anomalies are frequent and may be clustered
in syndromic patterns. One important pattern
is the Beckwith-Wiedemann syndrome that
may be present in up to 10% of cases.
8
It
may be also associated with pentalogy of
Cantrell, and omphalocele exstrophy
imperforate anus spinal defects syndrome.

The exact mechanism leading to omphalocele
is controversial. It has been suggested that
failure of the reduction of physiologic
embryonic umbilical hernia results in
omphalocele. Another possibility is that
omphalocele results from the failure of the
embryonic lateral folds to fuse in the midline.

Gastroschisis is thought to result from an
ischemic insult to the developing body wall.
The right paraumbilical area is an area at risk
because it is supplied by the right umbilical
vein and right omphalomesenteric artery until
they involute. If this ordered development
and involution is disturbed in degree or
timing, then a body wall defect could result
from the resulting body wall ischemia. An
alternative hypothesis that may account for
some cases of gastroschisis is that the defect
results from an early rupture of a hernia of
the umbilical cord.

Prenatal ultrasound could potentially identify
the overwhelming majority of abdominal
wall defects and accurately distinguish
omphalocele from gastroschisis. This
identification would permit an opportunity to
counsel the family and to prepare for optimal
postnatal care. It is unfortunate, however, that
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NJR I VOL 2 I ISSUE 1 I Jan-June, 2012

the accuracy of prenatal ultrasound for
diagnosing abdominal wall defects is affected
by the timing and goals of the study, fetal
position, and the experience and expertise of
the operator. The specificity is high (more
than 95%), but the sensitivity is only 60% to
75% for identifying gastroschisis and
omphalocele.
9, 10


The outcome of patients who have
gastroschisis depends largely on the
condition of the vulnerable bowel, whereas
the outcome of patients who have
omphalocele depends largely on the
associated anomalies and medical conditions.
Overall, patients who have gastroschisis have
an excellent prognosis.

Conclusion

Prenatal ultrasound could potentially identify
majority of abdominal wall defects and
accurately distinguish omphalocele from
gastroschisis. This identification would
permit an opportunity to counsel the family
and to prepare for optimal postnatal care.

References

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7. Hwang PJ, Kousseff BG. Omphalocele
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