Omphalocele

Omphalocele is a defect in the baby’s abdominal wall that allows the intestines and other organs to protrude outside of the body, through the navel. 

The protruding organs are covered by a clear, thin membrane called a sac.  

The omphalocele may be small, with only a part of the intestine protruding. In rarer cases, it may be large, with most of the abdominal organs located outside of the baby’s body.

How does omphalocele affect my baby?

Babies with omphalocele may face risks that include:

• Infection in the organs protruding outside of the body if the protective sac is broken
• Blocked blood flow to the protruding organs if they become twisted, causing damage to those organs
• Small, underdeveloped lungs (known as pulmonary hypoplasia)
• A small, underdeveloped abdominal cavity
• A rupture in the sac before, during or after delivery

In many cases, a baby with omphalocele also has other birth defects, such as a heart defect or chromosomal abnormalities.

The outlook for each baby varies based on the size of the defect, damage to their organs, and the presence of other conditions.

Cause and Prevalence

Omphaloceles occur in about 1 out of every 5,000 births in the United States. Large omphaloceles are rarer, affecting an estimated 1 out of every 10,000 babies born. The cause is unknown.

The defect occurs very early during fetal development, when the abdominal cavity doesn’t form correctly. During normal fetal development, as the intestines grow, they extend outside the baby’s body into the umbilical cord, then move back into the abdomen by about 11 weeks of gestation. When the intestines don’t return to the abdominal cavity, an omphalocele forms around the base of the umbilical cord, containing the intestines and sometimes other organs.

Diagnosis and Testing

An omphalocele doesn’t typically cause any symptoms during pregnancy.  

The defect is usually detected during pregnancy through a routine blood test and ultrasound scan. High levels of a protein known as alpha-fetoprotein (AFP) in the mother’s blood can indicate certain fetal defects, including abdominal wall defects.

If omphalocele is diagnosed during your pregnancy, you may be referred to a fetal center equipped to diagnose and treat complex and rare fetal conditions.

At Texas Children’s Fetal Center, we arrange for you to visit as quickly as possible to meet with a team of specialists experienced in diagnosing and treating omphalocele, including maternal-fetal medicine physicians, pediatric surgeons, neonatologists, genetic counselors and fetal imaging experts.

Additional testing to assess the severity of your baby’s condition may include:

• Anatomy ultrasound to confirm the diagnosis, gain more information about the omphalocele, and identify any other conditions
• Fetal echocardiogram to evaluate your baby’s heart and look for any heart defects
• Amniocentesis and chromosomal analysis, as omphalocele is often associated with chromosomal abnormalities 

At the end of the day, our specialists will meet with you about your results, answer any questions you have, and provide recommendations based on your baby’s omphalocele and any related conditions, to help you make the most informed decisions regarding care and treatment. 

Treatment During Pregnancy and Delivery

You and your baby will be closely monitored throughout your pregnancy, with regular ultrasounds to assess fetal growth and development.

Surgery to repair the omphalocele will take place after your baby is born. The timing of the surgery will depend on the size and severity of the defect.

Delivery and postnatal care should be carefully planned and coordinated with a team of maternal-fetal medicine specialists, neonatologists and pediatric surgeons experienced in the treatment of omphalocele.

For the best possible outcomes, delivery should take place at a center equipped to address both the mother’s needs in pregnancies complicated by birth defects and the surgical and intensive care needs of babies with omphalocele, avoiding the need to transport your newborn to another location.

Babies with large omphaloceles, or that involve the liver, typically require delivery by Cesarean section to minimize the risk of potentially life-threatening damage to the organs.

After delivery, your baby will be moved to a neonatal intensive care unit (NICU). Texas Children’s level IV neonatal intensive care unit (NICU), the largest and highest-ranked NICU in the South, offers the highest-level of care for premature and critically ill babies.

Surgery After Birth

The type and timing of surgical treatment will depend on the size of your baby’s omphalocele, the organs involved, lung function, and other associated conditions.

Small omphaloceles – Newborns with a small omphalocele typically undergo surgery as soon as they are stable, usually within days of delivery. During the procedure, the surgeon removes the sac around the organs, and replaces the organs back into the abdominal cavity. The defect in the abdominal wall is then closed. 

Large omphaloceles – If your baby has a large omphalocele, the abdominal cavity may be too small and underdeveloped for the organs to fit back into the abdomen. In this case, treatment is done in stages, giving the abdomen time to expand.

The steps in a “staged repair” include:

• Immediately following delivery, the baby’s omphalocele is wrapped with a sterile, protective covering to protect it from rupturing and also to allow it to epithelize or ‘skin over’.
• The covering is tightened over time, gradually and gently pushing the organs down into the abdominal cavity.  
• When all the organs are inside the baby’s abdomen, the sac is removed and the opening in the abdominal wall is closed.

Giant omphaloceles – Some omphaloceles are too large to repair right away. Babies with giant omphaloceles may also have underdeveloped lungs and require a breathing tube and ventilator.

Surgery is delayed to give these babies time for their abdominal cavity and lungs to grow. During this waiting period, an antibiotic cream is applied to the omphalocele and it is covered with elastic gauze. Over time, the baby’s skin grows over the sac.

The baby may be able to go home during this waiting period. The parents will be taught how to wrap the omphalocele to keep it protected, restricted from outward growth, and gently compressed against the abdomen. As the child’s body gets bigger, the omphalocele gets smaller, working its way down into the abdomen until the defect can be surgically closed.  

Long-Term Outcomes

Each baby’s outlook depends on the size of the omphalocele, damage to the organs, and other conditions present. Common complications may include:

• Feeding difficulties
• Bowel obstruction
• Gastroesophageal reflux
• Infection
• Delayed growth
• Inguinal hernias

Babies with giant omphaloceles are at greater risk of long-term health issues associated with small lungs, including problems with breathing, heart function, feeding and development.

Why Texas Children’s Fetal Center?

A single location for expert maternal, fetal and pediatric care. At Texas Children’s Hospital, you and your baby can get the specialized care you need for the treatment of omphalocele all in one location, avoiding the need to transport your newborn and providing you immediate, easy access to your baby in our renowned NICU.

A highly skilled and experienced team with proven outcomes. We have a dedicated team of maternal-fetal medicine specialists, pediatric surgeons, neonatologists, cardiologists and others who work in concert to care for you and your baby every step of the way, using protocols we’ve developed over the years that result in excellent, published outcomes. With their combined expertise and unified approach, these leading physicians offer the best possible care for babies with omphalocele.

We care for your child’s needs at every stage of life. Our comprehensive approach starts with your first prenatal visit for omphalocele and continues throughout your child’s delivery, postnatal care and into adolescence, as needed, thanks to one of the nation’s leading teams of specialists for the treatment of fetal conditions.

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Volumes & Outcomes

View data on our experience and outcomes treating fetal omphalocele