Gastroschisis Versus Omphalocele / Exomphalos

Author:

Junise Swanson RN
Jonathan Weeks, M.D.

Objectives: Upon the completion of this CME article, the reader will
be able to
1.
Explain the importance of making a distinction between a
diagnosis of gastroschisis versus omphalocele.
2.

Describe the associated anomalies that can be seen with

gastroschisis and omphalocele.

3.

Discuss the overall prognosis and management of gastroschisis

and omphalocele.
Introduction
There are two main types of ventral abdominal wall defects seen
at the level of the umbilicus that are detectable by perinatal
ultrasound. These are gastroschisis and omphalocele / exomphalos.
The identification of these two anomalies by ultrasound along with
being able to differentiate between them is essential for prenatal
diagnosis, obstetrical management, and assessing prognosis.
Definition and Incidence

Gastroschisis is a malformation of the abdominal wall that

presents as a protrusion of viscera through a paraumbilical defect.
This condition has no known genetic association. The defect usually
occurs to the right of the umbilicus but the umbilicus is intact.
Gastroschisis involves all the layers of the abdominal wall. As a
result, the small bowel almost always eviscerates through the defect
and floats freely in the amniotic fluid. There is no membranous
covering. It is also unusual for the liver, spleen, or bladder to herniate
through the defect. The incidence of gastroschisis worldwide is about
1 per 10,000 live births. However, isolated cases of gastroschisis can
occur at a rate of about 7 per 10,000 live births in mothers under the
age of 20.
Omphalocele (Exomphalos) is a midline defect where the
abdominal contents herniate through the base of the umbilicus. The
herniated abdominal contents usually include the bowel and stomach,
and often a portion of the liver. These contents are covered with a
translucent, avascular membrane, consisting of peritoneum on the
inside and amniotic membrane on the outside, separated by Whartons
jelly. The incidence of omphalocele in live births worldwide is about 2
per 10,000 and increases with maternal age.
Pathogenesis
Gastroschisis is a defect resulting from a vascular compromise
of either the right umbilical vein or the omphalomesenteric artery.
Disappearance of the right umbilical vein (prior to 28-32 days after
conception) may lead to ischemia and result in mesodermal and
ectodermal damage. Another possibility is a vascular accident
involving the omphalomesenteric artery that leads to a disruption of
the umbilical ring and hence, herniation of the abdominal contents.

The pathogenesis of Omphalocele / Exomphalos is completely

different. During the development of the embryo, four areas of tissue
converge to complete the closing of the abdominal wall. These are
the caudal (lower), cephalic (upper), and two lateral (side) folds. If
the caudal (lower) fold fails to fuse, it results in cloacal extrophy of
the bladder. If the cephalic (upper) fold fails to fuse the result is
omphalocele with ectopia cordis (the fetal heart outside the chest)
along with sternal and / or diaphragmatic malformations (often called
Pentalogy of Cantrell). When the lateral (side) folds fail to fuse, this
results in isolated omphalocele producing the herniation of bowel and
usually liver, stomach, and sometimes spleen depending on the size of
the defect. This herniation is contained within a membranous sac into
which the umbilical cord inserts.
Associated Anomalies
Approximately 80% of gastroschisis cases are isolated
occurrences, but 10% to 30% are associated with other
malformations. Intestinal tract complications are the most common
and include malrotation, atresia, stenosis, chemical irritation and
thickening (due to direct exposure with the amniotic fluid), ischemia
of bowel sections (due to kinking), and bowel obstruction. Other
defects or complications that have been reported are congenital heart
defects, hydrocephalus, polyhydramnios, oligohydramnios,
genitourinary tract abnormalities, and prune belly syndrome.

For omphalocele / exomphalos, approximately 50% to 70% are

associated with other serious anomalies. Chromosome abnormalities
are seen in about 50% of the fetuses with omphalocele. (To briefly
review, the normal genetic makeup of an individual should consist of
22 pairs of chromosomes, which are numbered 1 through 22, with a
pair of sex chromosomes, for a total of 23 pairs or 46 chromosomes.)
The most common chromosome anomalies seen with omphalocele are
trisomy 13, trisomy 18, and trisomy 21. Other chromosome
abnormalities include Turner Syndrome (a female with the genetic
makeup of 45 chromosomes but only one X chromosome 45 XO),
Klinefelter Syndrome (a male with more than one X chromosome
most often 47 XXY), and triploidy (which is an individual with a
complete set of 23 extra chromosomes such as 69 XXX). Other
sporadic disorders that may include omphalocele as a component are
Pentalogy of Cantrell (as described above) and Beckwith-Wiedemann
syndrome (which is a disorder of macrosomia in conjunction with an
enlarged liver and kidneys and a large protuberant tongue
macroglossia). Associated cardiac defects are also common (such as
ventricular septal defect and tetralogy of Fallot) as are neural tube
defects, a two-vessel umbilical cord, diaphragmatic hernias,
arteriovenous (AV) malformations, low birth weight, and a higher
incidence of preterm delivery.
Ultrasound Findings and Prenatal Diagnosis

For gastroschisis, multiple echogenic free-floating bowel loops

near the anterior abdominal wall can be visualized during an
ultrasound evaluation. A membranous covering or sac will not be
seen. There will also be an intact umbilical cord insertion site seen to
the left of the defect. Polyhydramnios or oligohydramnios can also be
present. These findings can be identified on a routine ultrasound;
however, a targeted scan should be done to evaluate the fetal anatomy
for other possible anomalies. Early detection of additional anomalies
might affect prognosis. Factors that can sometimes make it difficult
to identify gastroschisis are a low amount of amniotic fluid
(oligohydramnios), the size of the defect, the fetal size and gestational
age, and the fetal position. Detection before 12 weeks gestation can
be difficult due to the normal migration of the fetal gastrointestinal
tract. The embryonic bowel normally protrudes into the base of the
umbilical cord during the first trimester of pregnancy. The bowel
later migrates back into the abdominal cavity. This process occurs
between the 8th and 12th week of gestation. Therefore, it is important
not to make an incorrect diagnosis of a fetal anomaly at this early
gestational age for a finding that is a normal anatomical process.
The maternal serum alpha-fetoprotein (MSAFP) is a screening
genetic blood test that can be performed during pregnancy. Values
are recorded as abnormally low, normal, or abnormally high. For
gastroschisis, the MSAFP level is abnormally elevated in 98% of the
cases. If an amniocentesis is performed, the amniotic fluid AFP level
is also elevated. Acetylcholinesterase (ACHE) is another substance
that can be tested for in amniotic fluid. Under normal circumstances,
ACHE should not be detected in the amniotic fluid. However, for
gastroschisis, ACHE is detected in the amniotic fluid. If you combine
MSAFP screening with a positive identification by ultrasound, most
cases of gastroschisis can be diagnosed prenatally (figures 1 & 2).

For omphalocele / exomphalos, a solid appearing, round,

echogenic mass adjacent to the anterior abdominal wall is seen on
ultrasound. The herniation is in the midline within a sac or membrane
and the umbilical cord inserts into this mass. Amniotic fluid AFP
levels are also usually significantly elevated (similar to gastroschisis).
As with gastroschisis, by combining AFP screening with a positive
identification by ultrasound, a diagnosis of omphalocele can usually be
made. With this diagnosis, however, a targeted scan for other
abnormalities is very important due to the high rate of associated
anomalies (figures 3 & 4).
Management and Prognosis
Proper management of the infant diagnosed with an abdominal
wall defect is important in terms of:
1.

Detecting associated anomalies early

2.

Delivering the child at a center where appropriate

postnatal care can be performed

3.

Preventing iatrogenic injury to the herniated abdominal

contents during delivery, and

4.

Determining the proper delivery time as to decrease

bowel damage in utero

With a diagnosis of gastroschisis, the fetus should have followup ultrasounds to watch for intrauterine growth restriction (seen in
50% of cases), oligohydramnios or polyhydramnios, and for signs of
bowel obstruction and damage. Karyotyping (genetic amniocentesis)
is not usually recommended because most cases of gastroschisis are
not associated with chromosome abnormalities. (One potential
concern, however, is the issue that an omphalocele that has ruptured
through its membrane covering could mimic a gastroschisis.
Therefore, some prenatal testing centers may offer further genetic
testing.) Most studies have concluded that cesarean section does not
significantly benefit the fetus regarding morbidity and mortality
postnatally. If the defect is large and contains a portion of the liver,
most obstetricians would consider cesarean section over vaginal
delivery. If at all possible, the child should be delivered at a tertiary
care center. In the case of an isolated gastroschisis the overall
prognosis is very good with a survival rate of greater than 90%. In
cases where a significant atresia of the intestinal tract has occurred,
the survival rate can drop to as low as 40%. Usually the gastroschisis
will be closed within 24 hours of delivery. Staged closures may be
necessary depending on the size of the defect and associated
anomalies.

For omphalocele / exomphalos, serial ultrasound evaluations are

indicated to follow fetal growth. Intrauterine growth restriction is
also common with this disorder, along with polyhydramnios and
preterm labor. Rupture of the membrane covering is rare (but can
occur); however, bowel atresias are uncommon. Karyotyping (through
genetic amniocentesis) is usually recommended, especially in the
presence of other anomalies because of the high rate of chromosomal
abnormalities seen with omphalocele. An omphalocele by itself is not
an indication for cesarean section. For a large omphalocele
containing liver, the fear of injury to the liver with vaginal delivery is a
concern and therefore, cesarean section is often recommended.
Stillbirths are common among fetuses with omphalocele, especially in
the presence of other anomalies or chromosomal defects. Death
during the neonatal period depends on the other anomalies that may
be seen in addition to the omphalocele. Severe associated anomalies
are responsible for 80% to 100% of the reported deaths. Sepsis and
complications from surgical repairs are responsible for less than 10%
of the deaths. Approximately, 50% of fetuses diagnosed with
omphalocele will not survive (again, this is usually due to the other
associated abnormalities). In the absence of other anomalies, the
outcome for a fetus with omphalocele is good. Surgical repairs can be
complex and staged closures are usually dependent upon the size of
the defect. Omphaloceles are usually repaired within 24 to 48 hours
of birth.
Summary

Though somewhat similar in their presentation (an abdominal

wall defect with an elevated maternal serum AFP level), gastroschisis
and omphalocele are distinctly different. They have a dissimilar
pathogenesis and can carry a different prognosis depending on the
associated anomalies, if present. It is important for
ultrasonographers to understand these differences when dealing with
a patient who is carrying a fetus with one of these congenital defects.
Figures
1&2

Gastroschisis free-floating bowel loops with no

membrane covering.
3&4

Omphalocele mass adjacent to the fetal anterior

abdominal wall with a membrane covering.

References or Suggested Reading:

1.
Creasy RK and Resnik R. Maternal-Fetal Medicine. Principles
and Practice. Philadelphia: Saunders; 1994.
2.

Fleisher AS, et al. Sonography in Obstetrics and Gynecology.

Connecticut: Appleton & Lange; 1996.

3.

Reece EA, Hobbins JC, Mahoney MJ, et al. Medicine of the

Fetus and Mother. Philadelphia: Lippincott; 1992.

4.

Callen PW. Ultrasonography in Obstetrics and Gynecology.

Philadelphia: Saunders; 1994.

5.

Harrison MR, Golbus MS, and Filly RA. The Unborn Patient,
Prenatal Diagnosis and Treatment. Philadelphia: Saunders;
1991.

6.

Romero R, Pilu G, Jeanty P, et al. Prenatal Diagnosis of

Congenital Anomalies. Connecticut: Appleton & Lange; 1988

7.

Twinning P, McHugo JM, and Pilling DW. Textbook of Fetal

Abnormalities. Edinburgh: Churchill Livingstone; 2000.

8.

Chervenak FA, Isaacson GC, and Campbell S. Ultrasound in

Obstetrics and Gynecology, Volume 2 USA: Hal; 1993.

9.

Jones KL. Recognizable Patterns of Human Malformation.

Philadelphia: Saunders; 1997.

10.

Petrikovsky BM. Fetal Disorders, Diagnosis and Management.

New York: Wiley-Liss; 1999.

11.

Fleischer AC, Romero R, Manning FA, et al. The Principles and

Practice of Ultrasonography in Obstetrics and Gynecology.
Connecticut: Appleton & Lange; 1985.

About the Author

Junise Swanson received her Bachelors degree from the
University of Kentucky in Nursing in 1976. She also conducted
further post-graduate studies in biology in 1987 from the University of
Louisville. She was a neonatal nurse for 14 years in the Neonatal
Intensive Care Unit at the University of Louisville Hospital. For the
last 7 years she has been a Perinatal Ultrasonographer at the
Maternal Fetal Medicine Center at the University of Louisville
Hospital, Norton Healthcares Reproductive Testing Center, and The
Maternal Fetal Medicine Center of the Norton Suburban Hospital.
Jonathan Weeks, M.D. is a board certified Obstetrician /
Gynecologist and Perinatologist. He is currently director of the
Maternal Fetal Medicine Center at Norton Suburban Hospital. Dr.
Weeks has several publications in peer-review medical journals and
has lectured at numerous meetings across the country.
Examination:
1.
Gastroschisis is a malformation of the abdominal wall that
A.
is commonly associated many different genetic disorders.
B.
usually occurs to the left of the umbilicus but the
umbilicus is intact.
C.
only involves a few layers of the abdominal wall.
D.
has no membranous covering.

E.
allows abdominal contents to herniate through the base of
the umbilicus.
2.

The incidence of gastroschisis worldwide is about

A.
1 per 10,000 live births.
B.
2 per 10,000 live births.
C.
3 per 10,000 live births.
D.
4 per 10,000 live births.
E.
5 per 10,000 live births.

3.

Omphalocele (Exomphalos) is a midline defect

A.
where the abdominal contents herniate to the right side of
the umbilicus.
B.
that rarely contains the liver, bowel, and stomach.
C.
that allows abdominal contents to herniate through the
base of the umbilicus.
D.
that has no membrane covering.
E.
where the abdominal contents herniate to the left side of
the umbilicus.
4.

The incidence of omphalocele in live births worldwide is about

A.
7 per 10,000 and increases with maternal age.
B.
7 per 10,000 and decreases with maternal age.
C.
2 per 10,000 and increases with maternal age.
D.
2 per 10,000 and decreases with maternal age.
E.
4 per 10,000 and is not affected by maternal age.

5.
of

Gastroschisis is a defect resulting from a vascular compromise

A.
B.
C.
D.
E.

the
the
the
the
the

left umbilical vein

superior mesenteric artery
inferior mesenteric artery
splenic artery
omphalomesenteric artery

6.

During the development of the embryo, if the caudal fold tissue

fails to fuse, it results in
A.
cloacal extrophy of the bladder
B.
omphalocele
C.
gastroschisis
D.
Pentalogy of Cantrell
E.
ectopia cordis

7.

During the development of the embryo, if the lateral tissue folds

fail to fuse, it results in
A.
cloacal extrophy of the bladder

B.
C.
D.
E.
8.

omphalocele
gastroschisis
Pentalogy of Cantrell
ectopia cordis

The most common associated anomaly(s) seen with gastroschisis

is (are)
A.
prune belly syndrome
B.
genitourinary tract abnormalities
C.
congenital heart defects
D.
intestinal tract complications
E.
hydrocephalus

9.
Associated anomalies seen with gastroschisis include all of the
following except
A.
intestinal tract complications such as malrotation, atresia,
and stenosis.
B.
ischemia of bowel sections due to kinking, and
obstruction.
C.
congenital heart defects
D.
genitourinary tract abnormalities
E.
trisomy 18.
10.

In regard to omphalocele / exomphalos, chromosome

abnormalities are seen in about _______ of fetuses.
A.
10%.
B.
50%
C.
25%
D.
75%
E.
90%

11.

Omphalocele can be seen with numerous different chromosome

abnormalities including triploidy, which is a fetus with
A.
45 chromosomes missing an X
B.
47 chromosomes with an extra X
C.
47 chromosomes with an extra Y
D.
47 chromosomes with an extra number 13
E.
69 chromosomes

12. Beckwith-Wiedemann syndrome may be associated with all of

the following except
A.
an enlarged liver
B.
enlarged kidneys
C.
growth restriction
D.
omphalocele
E.
macroglossia

13. The ultrasound findings for gastroschisis may include all of the
following except
A.
multiple echogenic free floating bowel loops near the
anterior abdominal wall
B.
no evidence of a membranous covering or sac
C.
polyhydramnios
D.
oligohydramnios
E.
an umbilical cord that inserts into the mass
14.

Factors that can sometimes make it difficult to identify

gastroschisis include all of the following except
A.
the size of the defect
B.
the fetal size
C.
the gestational age
D.
too much amniotic fluid (polyhydramnios)
E.
the fetal position

15.

It is important not to make an incorrect diagnosis of a fetal

anomaly between the 8th and 12th week of gestation because
A.
the fetal liver and spleen are not completely formed yet.
B.
the embryonic bowel normally protrudes into the base of
the umbilical cord during this time period and could mimic
an anomaly.
C.
the amount of amniotic fluid is too low at this point in
gestation to make an accurate assessment.
D.
the fetal stomach bubble is not visible enough to confirm
the presence of bowel.
E.
the umbilical cord at this gestational age looks like bowel
on ultrasound imaging.

16.

The ultrasound findings for omphalocele include

A.
a solid appearing, round, echogenic mass adjacent to the
anterior abdominal wall
B.
an umbilical cord that inserts to the right of the mass
C.
an umbilical cord that inserts to the left of the mass
D.
no evidence of a membranous covering or sac
E.
a herniation of abdominal contents to the right of the
umbilicus
17.

With a diagnosis of gastroschisis,

A.
the fetus should have follow-up ultrasounds to watch for
macrosomia.
B.
the fetus should have follow-up ultrasounds to watch for
oligohydramnios.

C.
D.
E.

18.

karyotyping (genetic amniocentesis) should always be

recommended because most cases of gastroschisis are
associated with chromosome abnormalities.
the patient should deliver by cesarean section
if the case is an isolated gastroschisis the overall
prognosis is very poor with a survival rate of less than
10%.

Regarding a potential diagnosis of gastroschisis, one potential

concern that may result in some prenatal testing centers
offering further genetic testing, such as amniocentesis, is
A.
the issue that an omphalocele may have ruptured through
its membrane covering, mimicking the appearance of a
gastroschisis.
B.
the presence of bowel ischemia due to kinking.
C.
the presence of oligohydramnios.
D.
the presence of an elevated maternal serum alphafetoprotein.
E.
the presence of bowel thickening due to prolonged
exposure to amniotic fluid.

19.

With a diagnosis of omphalocele / exomphalos,

A.
serial ultrasound evaluations are indicated to watch for
macrosomia because it is common with this disorder.
B.
rupture of the membrane covering is very common
finding.
C.
karyotyping (genetic amniocentesis) is usually
recommended, especially in the presence of other
anomalies.
D.
if the defect is large containing the liver, the patient
should be informed that it is less traumatic to the liver to
deliver vaginally.
E.
the risk of stillbirth is rare because omphalocele is usually
not associated with other anomalies or chromosomal
defects.
20.

Because of the other associated abnormalities, approximately

______ of fetuses diagnosed with omphalocele will not survive.
A.
10%
B.
25%
C.
35%
D.
50%
E.
75%