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Understanding Omphalocele
• What is Omphalocele?
• How common is Omphalocele and what causes it?
• How is Omphalocele detected during pregnancy?
• How will my pregnancy be managed now that Omphalocele has been detected?
• How will the Omphalocele be treated after birth?
• What is the long-term outlook for babies with Omphalocele?
• What are the chances I could have another baby with Omphalocele?
• What can I expect from the specialists at Morgan Stanley Children's Hospital?
WHAT IS OMPHALOCELE?
Omphalocele is a birth defect in the abdomen, and is
often referred to as a “ventral wall defect.” Babies with
omphalocele are born with some of their abdominal
organs protruding out of the body through an opening in the
abdominal muscles at the bottom of the umbilical cord.
These organs are covered by a clear sac. The omphalocele
can be small, containing only a part of the small intestines,
or it can be quite large, with most of the abdominal organs,
including liver, spleen, and large and small intestines; these
are known as “giant” omphaloceles.
Up to 70% of babies with omphalocele also have other birth
defects as well, most commonly in the heart, spine, intestines,
and urinary system. Thirty percent have a chromosome
abnormality such as Trisomy 18. Omphalocele can also be
part of a syndrome like Beckwith-Wiedemann (omphalocele,
large body size, large tongue, enlarged intestinal organs,
and severe newborn hypoglycemia) or Pentalogy of Cantrell
(omphalocele, defects in the sternum and diaphragm, and
lesions in the heart).
HOW COMMON IS OMPHALOCELE AND WHAT CAUSES IT?
Omphaloceles that contain only a part of the small intestines are seen
in 1 of every 5,000 newborns. Giant omphaloceles are less common,
around 1 in 10,000 births.
The cause of omphalocele is still unknown, though it is believed to occur
at 3 to 4 weeks gestation during the process of body infolding.
HOW IS OMPHALOCELE DETECTED DURING PREGNANCY?
Omphalocele is usually identified during pregnancy through prenatal
ultrasound in the second trimester. Careful ultrasound examination can
distinguish it from other types of ventral wall defects.
Most pregnant women will have a blood test known as the “AFP test”
in their second trimester. The results of this test indicate if the baby is
likely to have a ventral wall defect or a birth defect of the spinal cord
called spina bifida. If the results indicate a higher chance for these
birth defects, a sonogram is performed to closely examine the baby's
development.
HOW WILL MY PREGNANCY BE MANAGED NOW THAT OMPHALOCELE HAS BEEN DETECTED?
Regardless of where the omphalocele was first identified, you will still have another thorough ultrasound to examine the baby’s anatomy and development through the Center’s ultrasound unit. It will be performed by an obstetrician with special training and expertise in ultrasound and high-risk pregnancies, a subspecialty known as Maternal-Fetal Medicine (MFM). Your prenatal care and delivery will also be managed by a member of our MFM team. You will also be given the option (if you have not already) of doing an amniocentesis to check the baby’s chromosomes, since babies with omphalocele have a higher chance of a chromosomal abnormality.
You will have an opportunity to meet with a variety of pediatric subspecialists who routinely see patients with this diagnosis and who work together as a team to best manage your pregnancy and prepare for the birth of your baby. Your clinical care coordinator will set you up to meet with the following experts:
- Maternal-Fetal Medicine (MFM)—you will see one of a team of MFMs
throughout your pregnancy, and every effort will be made for that
doctor to deliver your baby.
- A Pediatric Cardiologist who will check the baby's developing heart
through a special ultrasound known as a fetal echocardiogram. The fetal
echo will check the structure and function of the developing heart.
- A Pediatric Surgeon who will thoroughly discuss with you the
general surgical approach taken with omphalocele, and what you might
expect for your baby after birth. The same pediatric surgeon you meet
during your pregnancy will likely be the one to operate on the baby
after birth.
- A Geneticist and a Genetic Counselor who will review with you,
your family history and discuss any possible genetic causes of the
omphalocele and genetic testing available during pregnancy or after
birth.
- A Neonatologist, a pediatrician specializing in newborns that need
extra attention in the Neonatal Intensive Care Unit (NICU). You will have
an opportunity to tour the Labor floor and the NICU with a Neonatologist,
learn what to expect in the days after you give birth, and become
familiar with the facilities and the philosophy of care.
Pregnancies with omphalocele are closely monitored during the third
trimester due to the chance that the baby could have problems with
growth. The ultrasounds will also check the omphalocele to make sure
the sac covering the organs does not rupture. As your delivery date
approaches, your MFM and medical team will discuss with you the route
of delivery for your baby; having a baby with omphalocele does not mean
that you have to have a cesarean section unless it is greater than 5 cm
based on ultrasound exam. Whether you undergo an induction of labor
or a planned cesarean section, you will ideally have your baby when the
whole medical team is ready and immediately available. Ultimately, you
and your medical team will decide what is best.
HOW WILL THE OMPHALOCELE BE TREATED AFTER BIRTH?
The specific plan for treatment of the omphalocele will be determined
by your medical team and will depend on a number of factors. In any
event, your baby will be stabilized and the omphalocele wrapped in
sterile dressing. The baby will be closely examined to determine if the
omphalocele is an isolated birth defect, and special testing such as
x-rays and MRI may be performed.
In general, a small omphalocele can be repaired shortly after birth.
The intestines are returned to the abdomen and the opening is closed.
The exposed organs in a giant omphalocele are gradually and carefully
returned to the abdomen over a period of days or weeks, making sure
that the abdomen can expand enough to accommodate them. When the
organs are back in the abdomen, the abdomen is closed.
Throughout this process the baby will breathe using a mechanical
ventilator and feed through an IV and a naso-gastric drip (called an NG
tube). Over time, as the intestines begin to function correctly, feedings
through the NG tube are increased, and when the baby is ready, feeding
by mouth is started. When the baby has gained enough weight and is
feeding well, he or she is probably ready to go home.
WHAT IS THE LONG TERM OUTLOOK FOR BABAIES WITH OMPHALOCELE?
The prognosis largely depends on the size of the omphalocele, whether
it is isolated or part of a syndrome with other birth defects, and how
severely impacted the lungs are. Some studies suggest that when the liver is involved in the omphalocele, it can result in a small abdominal
size and underdeveloped lungs. This can complicate the baby's ability to
breathe and affect the long-term outlook.
WHAT ARE THE CHANCES THAT I COULD HAVE ANOTHER BABY WITH OMPHALOCELE?
Isolated omphalocele (when omphalocele is the only finding) is not
believed to run in families, and the chances for another affected baby are
small. If the baby has a chromosomal abnormality, the chance for another
affected baby is 1% or the maternal-age risk, whichever is higher. If the
omphalocele is part of a genetic syndrome, the chances for another
affected baby could be as high as 50%, depending on the condition.
Your geneticist will help determine your specific odds.
WHAT CAN I EXPECT FROM THE SPECIALISTS AT MORGAN STANLEY CHILDREN'S HOSPITAL?
The well-being of you and your baby are extremely important to
everyone involved in your care. NewYork-Presbyterian Morgan Stanley
Children's Hospital/Columbia University Medical Center has consistently
been ranked in the top five pediatric hospitals nationally: our pediatric
surgeons have extensive experience with omphalocele, and our MFM
team is among the largest and most experienced anywhere. In fact, this
year the Department of Obstetrics and Gynecology was ranked fourth
nationally by U.S. News and World Report. Our NICU is one of the most
advanced in the United States, and has been cited several times for its
excellence and dedication to patient care.
The well-being of you and your baby are extremely important to everyone
involved in your care. Together we are all dedicated to giving you the
best pregnancy and healthiest outlook for your child.
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