Omphalocele

What is omphalocele

The size of the omphalocele defect can vary

widely from including only a portion of the small intestine, to containing most of the abdominal
organs, including the majority of the liver. CHOP/CFDTOmphalocele is a rare birth
defect that occurs in 1 in 4,000 7,000 live births. It is a type of abdominal wall
defect in which the bowel, liver and other abdominal organs protrude out of the
abdomen and into the base of the umbilical cord. Surgical repair is performed
primarily in stages, or after a period of waiting which can last several months.
Omphalocele occurs very early in pregnancy when the abdominal cavity fails to
form normally. The abdominal cavity is normally formed at three to four weeks
gestation when the disk-like embryo undergoes infolding. A large or giant
omphalocele forms when there is a failure of lateral infolding of the embryo,
resulting in an inadequate abdominal cavity with containment of the abdominal
organs only by a thin clear membrane called the omphalocele sac.
Smaller omphaloceles, also referred to as hernia of the cord, form later (eight to
11 weeks gestation) after normal infolding of the embryo occurs (resulting in a
formed abdominal cavity), when the umbilical ring fails to close around the
umbilical cord resulting in a small defect that usually contains only intestine.
Small omphaloceles are more likely to be associated with chromosomal defects or
syndromes.
Omphalocele differs from gastroschisis in that the protruding organs are covered
by the omphalocele sac. Gastroschisis has no sac and is likely caused by a rupture
of a hernia of the cord, resulting in extrusion of intestine through the small
umbilical defect. In contrast to gastroschisis, a ruptured giant omphalocele has
all of the organs, including liver, outside the abdomen without a covering
membrane.
In addition, compared to gastroschisis, giant omphaloceles are frequently
associated with small lung size. Finally, whereas gastroschisis often develops in
the first pregnancy of young mothers, omphaloceles typically develop in the
pregnancies of older women.
The Center for Fetal Diagnosis and Treatment sees between 30 and 50 cases of
omphalocele each year, making us one of the most experienced teams in the
world when it comes to diagnosing and treating this rare condition.
For more information about the diagnosis, delivery and treatment of babies with
omphalocele, watch our educational video series about abdominal wall defects.
View this video with a transcript

Evaluation and diagnosis

Omphalocele Prenatal Evaluation and Diagnosis

Fetal ultrasound showing giant omphalocele with liver herniation. CHOP/

Ultrafast fetal MRI showing herniation of abdominal organs including liver.

3D fetal ultrasound showing giant omphalocele. CHOP/CFDT
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The diagnosis of omphalocele is usually made by ultrasound in the middle or

second trimester of pregnancy (about 20 weeks). An amniocentesis is
recommended to evaluate for chromosomal abnormalities or genetic syndromes.
Families referred to the Center for Fetal Diagnosis and Treatment at The
Childrens Hospital of Philadelphia undergo a comprehensive evaluation that
includes:

Detailed level II fetal ultrasound a noninvasive, high-resolution imaging

study used to determine the amount and type of abdominal organs within the
umbilical sac and possible rupture of the sac, as evidenced by free floating bowel
or the liver outside of the abdomen. The possibility of other anatomic
abnormalities is evaluated. Lung size can also be estimated.
 Ultrafast fetal MRI an additional imaging technique advanced at CHOP
that shows the omphalocele and the entire fetus. The MRI is used to confirm
ultrasound findings and evaluate for the presence of any other anatomic
abnormalities, especially central nervous system anomalies. Lung volumes are
determined and compared to normal values at that gestational age (this
comparison is called the observed-to-expected lung volume ratio, or O/E ratio).

Fetal echocardiogram an ultrasound of the fetal heart to look for heart

defects. A unique collaboration with our specialized Fetal Heart Program, staffed
by pediatric cardiologists with fetal expertise, ensures early diagnosis of heart
defects.

For proper counseling and management of pregnancies diagnosed with

omphalocele, it is important to distinguish fetal omphalocele from other
abdominal wall defects and check for associated birth defects.

What are the risks to my baby?

The prognosis for a baby with an omphalocele largely depends upon the size of
the herniation and the presence or absence of other birth defects. More than half
of all babies born with omphalocele have other birth defects, including brain,
spine, heart, gastrointestinal issues, genitourinary problems or Pentalogy of
Cantrell. Other syndromes more commonly seen with small omphaloceles include
chromosomal abnormalities such as trisomy 18, or genetic syndromes such as
Beckwith-Wiedemann syndrome.
One-third of all babies with omphalocele have liver herniation, which is often
associated with a small belly size and small lungs (known as pulmonary
hypoplasia), two factors that can affect treatment and long-term outcomes. Up to
one-third can also have a heart defect which can also affect long-term outcome.
After a comprehensive diagnostic evaluation, CHOPs multidisciplinary team
(pediatric surgeon, high-risk obstetrician/reproductive geneticist, nurse
coordinator and genetic counselor) meets with your family to review test results,
confirm the diagnosis, explain options and potential outcomes, and answer
questions.
Our team works with you to develop a treatment plan tailored to the specific
needs of you and your baby. Your family will also receive educational information
about omphalocele and can tour CHOPs Garbose Family Special Delivery Unit
(SDU) and the Harriet and Ronald Lassin Newborn/Infant Intensive Care
Unit (N/IICU).

Monitoring and delivery

Your pregnancy will be closely monitored, particularly in the third trimester.
Regularly scheduled ultrasounds help us detect developing issues throughout the
pregnancy. If monitoring indicates fetal distress, our team, with over 100 years
combined experience, is prepared to move quickly and ensure the best outcome
for both mother and baby.
Delivery of babies with omphalocele may be vaginal or cesarean (C-section)
depending on the size and contents of the omphalocele. For a small omphalocele
that does not involve the liver, vaginal delivery is possible, provided there are no
obstetrical contraindications. Babies with liver in the omphalocele are delivered
by C-section to protect the omphalocele and prevent organs from rupturing or
bleeding, which can be life-threatening.
At CHOP, babies with omphaloceles are born in the SDU, allowing for the highest
level of immediate care for the newborn, as well as expert obstetric services for
the mother all within the same pediatric hospital. The worlds first birth facility
designed exclusively for pregnancies complicated by birth defects, the SDU is a
vital part of our teams ability to provide comprehensive care.
Your baby is stabilized by a highly specialized team of pediatric surgeons,
neonatologists, specially trained nurses and respiratory therapists, all with
extensive experience in treating neonates with omphalocele. The omphalocele sac
is wrapped with a sterile dressing and particular attention is paid to breathing
assistance, as babies with giant omphaloceles typically have small lungs and often
require a breathing tube and ventilator.
Once your baby is stabilized, you will have a chance to meet him before he is
brought to the N/IICU.

Treatment
Surgical repair of the omphalocele takes place after birth. The overall health of
your baby, especially his respiratory status, the size of the omphalocele and the
degree of liver involvement, determine the type of treatment. Babies with small
omphaloceles are monitored closely until they are ready to undergo primary
repair. This means the herniated organs are placed back into the abdominal
cavity and the defect is completely closed in one operation.
Omphalocele Treatment

For babies with giant omphalocele, a staged repair of the protrusion is neces

Babies are stabilized immediately after birth and the omphalocele sac is wra

The baby is taken to the OR where a mesh sheeting is sewn over the defect.

The baby returns to the N/IICU where, over the course of days or even weeks
cavity. This gradual process gives the abdominal wall time to expand, and en
immediate pressure of surgical closure. CHOP/CFDT

When the organs have moved back into the abdomen and the lungs have had
final closure. CHOP/CFDT

After surgery: this image shows the abdomen of a patient with giant omphal
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For babies with giant omphalocele that contain the liver and other organs,
a staged repair (involving several steps, also called the Schuster procedure) is
needed to gradually return the abdominal contents to the belly. This gradual
process provides time for the abdominal wall to stretch to accommodate the
viscera, and ensures that the lungs can continue to grow and expand without
immediate pressure of surgical closure.
In a staged repair, a mesh fabric is sewn to the fascia (connective tissue) and
muscle on each side of the omphalocele defect. The two pieces of fabric are then
sewn together over the defect, and the omphalocele sac remains intact. Your baby
returns to the N/IICU, where his organs are gradually returned to the abdominal
cavity and the mesh is continuously tightened over the course of days or weeks.
Once all of his organs are back in his belly, your child's surgeons can remove the
 mesh and safely perform the final closure. Babies are monitored very closely
throughout this process.
In some cases of babies with giant omphaloceles, the amount of organs
protruding may be so large that there isnt enough room in your babys body to fit
them all inside, preventing omphalocele closure in the neonatal period. Small
lung size may also delay closure. If this is the case, surgery may be postponed for
months to allow the lungs and body to grow. During this time, a technique
called paint and wait is used. The sac covering the omphalocele is painted
with an antibiotic cream and covered with elastic gauze. Your babys skin will
grow over the sac with time.
Some babies do not need to remain hospitalized during the paint and wait
treatment. We will teach you how to do this technique so that you can bring your
baby home. When all of the contents of the omphalocele are covered with skin
and the lungs have had a chance to grow, your child's surgeon will talk with you
about options for surgically closing the remaining hole.

Follow-up care
N/IICU stays for babies with omphalocele can range from several days to several
months, depending on your babys lung function, the size of the defect and timing
of surgical repair. Infants are monitored for common complications of
omphalocele, such as feeding difficulties, bowel obstruction and gastroesophageal
reflux. Babies with omphalocele also frequently have inguinal hernias, another
condition that requires surgical repair.
Before your baby is ready to go home, he will need to gradually meet certain
milestones, including:

breathing on his own (may need supplemental oxygen)

full enteral feedings (by mouth or feeding tube)

maintaining his own temperature

gaining weight

Another important milestone is making sure you and any other caretakers are
ready to take care of your child at home. Our team is here to support you
throughout that learning process.
Parents are an integral part of the team and play an important role in caring for
their baby from the start. During the stay in the N/IICU, a specialized team of
 surgeons, nurses, speech therapists (for feeding therapy), lactation consultants,
respiratory therapists and social workers are available as needed to help educate
your family about what you can do during the hospital stay, as well as caring for
your baby after discharge. The nursing staff teaches you special feeding
techniques and other specialized care that your child might need.
Families also have access to the Connelly Resource Center and CHOPs Child Life
department. These programs provide resources and support to make the hospital
experience easier on the entire family. From sleeping rooms and laundry facilities
to programs that help siblings adjust to having a new baby in the family that
requires special medical care, the team can help every family make use of all
resources available to them.

Long-term outlook
Babies who have had small omphaloceles receive follow-up through their
pediatrician and the pediatric surgeon. Those without associated defects
generally have good long-term outcomes. Babies with giant omphaloceles
typically need to be followed more closely by a multidisciplinary team as part of
ongoing omphalocele treatment. The pulmonary hypoplasia (small lungs)
associated with giant omphalocele can affect not only breathing, but also heart
function, ability to feed, and overall development. This represents a significant
long-term health issue.
The Childrens Hospital of Philadelphia has created a unique Pulmonary
Hypoplasia Program (PHP) that provides comprehensive, interdisciplinary care
specifically focused on this challenging condition. The multidisciplinary team
that follows children throughout infancy and well into school age includes:

Pediatric surgeons

Pediatric pulmonologists

Pediatric cardiologists

Developmental pediatricians

Developmental psychologists

Dieticians

Audiologists
 Social workers

Other specialties as needed, including gastroenterology, orthopedics,

urology, physical therapy and occupational therapy.

The PHP team collaborates with each family to improve your childs health and
development, monitor growth, monitor for surgical issues that may develop, and
help locate resources and support near the home.
Updated: March 2013