Omphalocele

An infant with an omphalocele. in which the abdominal organs are pushed out into the base of the umbilical cord.

What is omphalocele?
Omphalocele (um-fal-o-seel) occurs when some of the internal organs normally located in the abdomen of a baby are pushed out into the base of the umbilical cord  (see illustration). The abdominal cavity itself may be small and underdeveloped because the organs normally contained in it developed outside of it. The organs pushed out into the umbilical cord may be covered by a membranous sac, or the sac may be ruptured before, during or after delivery. Omphaloceles vary in size from very small to "giant". Small omphalocele's occur in 1 out of every 5,000 to 6,000 births. Large or "giant" omphaloceles occur in 1 out of every 10,000 live births. A small omphalocele involves only a small portion of the intestine outside the body. A giant omphalocele is very large and may have other organs such as liver, spleen and intestines herniated into the umbilical cord. Giant omphaloceles may have a more guarded prognosis.

Up to 50 percent of babies with an omphalocele will have an associated anomaly or birth defect including: cardiac (most commonly seen, found in 19 to 32 percent of cases), neurological, skeletal, chromosomal, urinary tract, or Beckwith-Weidemann syndrome. Omphaloceles associated with other anomalies may also have a more guarded prognosis. Omphaloceles are seen more commonly in mothers over age 35. We do not know the cause of an omphalocele. We do know that during fetal development the intestines will move outside the body for a time and then move back in. For some reason there is a failure or a disruption during this period of development and the intestines fail to migrate back into the abdominal cavity. We know that omphaloceles are not caused by anything the mother ate or did during pregnancy.

How does the diagnosis of omphalocele affect the pregnancy?
The diagnosis of omphalocele is confirmed by ultrasound. Because of the increased risk of an associated anomaly, a targeted ultrasound will be performed by a perinatologist. Omphaloceles can be associated with some chromosomal abnormalities (up to 30 percent) so an amniocentesis may be offered.  An ultrasound of your baby's heart (fetal echocardiogram) may also be recommended.

These babies will be monitored closely throughout the pregnancy. Ultrasounds will be done every two to four weeks to assess how well the fetus is growing, the amniotic fluid volume and fetal well-being. You will be instructed on daily fetal movement counting at about 26 weeks' gestation. Non-stress tests (a recording of the baby's heart rate while you are sitting and pressing a button each time the baby moves) may be scheduled at around 32 weeks' gestation. Biophysical profiles (BPP) may also be scheduled weekly. The BPP is an ultrasound that monitors amniotic fluid volume, the baby's breathing movements, and movements of the extremities along with the nonstress test.

The method of delivery will be discussed with you as the time gets closer. The method of delivery is dependent on the size of the omphalocele. If the size is quite large and especially if the liver is involved, the doctor may prefer to do a cesarean section to avoid the risk of injury to the liver. Otherwise, the preferred method of delivery is vaginal.

Other reasons to do a C-section for a baby with an omphalocele include those reasons that would affect a routine pregnancy. Labor may be induced or allowed to start on its own.

How does omphalocele affect my baby?
Because omphalocele can be associated with other anomalies, your baby will be examined thoroughly for any other problems that would need intervention. How well your baby does is dependent on the presence and severity of associated problems and also on the size of the omphalocele.

These babies will need to go to surgery soon after birth, so it is best if they are born at a hospital that can care for both the baby and mother. This keeps the two together and avoids the trauma of having to transport the baby after birth. It helps reduce the time required to get the baby to surgery, and decreases the chance of injury to the exposed bowel.

How is omphalocele treated?
When the baby is born, the defect in the abdominal wall is usually covered with a membranous sac. However, if this sac is injured, the abdominal organs may be exposed. This leaves the baby at risk for infection and the exposed organs can lose heat and fluids. Until surgery, the bowels will be covered with moist, warm, sterile gauze and the lower half of the baby's body will be placed in a bag to hold moisture and heat in. If the membrane is intact, a dry dressing over the membrane is usually sufficient.

An infant with a repaired omphalocele.

The baby will need surgery. During surgery the organs will be put back inside the baby's abdominal cavity. If possible, all of the abdominal organs will be put back into the abdominal cavity at this initial surgery. This is referred to as a "primary closure." If it does not all fit, the remainder of exposed bowel may be placed in a sac or "silo" that is reduced on a regular basis. The abdominal wall will be closed at a later time, in surgery, once all the bowel is in the abdomen. Sometimes as the bowel is moved into the abdomen, the baby requires help breathing.

If the omphalocele is very large and the sac is intact, immediate surgery may not be possible. The plan then would be to allow the sack to be the protective barrier until the skin grows over. Surgery would be postponed for six months to one year and is typically done in stages until final closure.

What about after surgery?
After surgery the baby may not be able to breath effectively on his/her own due to the increased pressure on the diaphragm. A special tube called an endotracheal tube(ETT) will be placed at the time of surgery (if it was not needed earlier) to assist with breathing. This tube goes through the vocal cords and into the windpipe. While the ETT is in place the baby cannot make any noise because of its position in the vocal cords. This tube will probably stay in for a time until the baby can breathe effectively on his/her own. Another tube will be passed into your baby's stomach (either through the nose or mouth). Low intermittent suction will be applied to this tube to keep the stomach empty so as not to cause more pressure on the diaphragm.

Your baby will not be able to eat for a time after surgery. Some special lines are put in place while the baby is in the operating room for surgery. A central line will be placed so we can give nourishment (vitamins, minerals, protein, calories, fat) for a prolonged period of time. An arterial line will be placed in one of the extremities. Blood pressure can be monitored and blood removed through this line for lab work. Before he/she goes to surgery, a peripheral IV will be put in. These IV lines can be in the hand, arm, scalp, foot or lower leg.

Your baby will need frequent blood draws for lab work to monitor oxygenation, electrolytes, blood count as well as other things. Your baby may be on a variety of medications that can include antibiotics to fight infection and pain medication to control post operative pain. Your baby may look puffy or swollen after surgery. The legs may be especially swollen. This is called edema. It will go away as your baby gets stronger and his/her body adjusts to the pressure of the bowels being back in the abdomen.

Because these babies cannot eat for a prolonged period of time, special nourishment is given through the central line. Total parenteral nutrition (TPN) is an IV solution that contains protein, fats, sugar, vitamins and minerals. This will supply your baby with all of his/her nutritional requirements until he/she is able to take food by mouth.

One of the hardest parts of recovery for babies with omphalocele is learning to eat and tolerating food. Their bowels require time to adjust to being inside the body. We wait for signs from the baby that the bowels are beginning to work. These signs include bowel sounds, spontaneous passing of stool, and a decrease in the amount of drainage coming from the tube in the baby's stomach.

Will I be able to help care for my baby after surgery?
Yes! Please ask your baby's nurse about ways to interact with and care for your baby.

If you had planned on breast-feeding your baby, you can begin to pump your breasts while you are still in the hospital. A lactation consultant can assist in answering your questions. Your milk will be frozen and stored in the Neonatal Intensive Care Unit (NICU) until your baby is ready for it. The NICU has breast pumps and private rooms available to you when you are visiting. You can bring in pictures, small toys, booties, and blankets for your baby while he/she is in the NICU.

When can my baby go home?
Your baby will go home when he/she is eating and tolerating enough food to maintain and allow them to grow and gain weight. A typical baby with omphalocele will be in the NICU for approximately four to eight weeks. This is dependent on the size of the omphalocele and the presence and extent of associated anomalies. If your baby has a giant omphalocele, it takes more time for the final closure and all the intestines to be fit back into the body. The hospitalization may be prolonged up to three to six months. A lot of time will be spent helping the baby learn to eat. Speech therapists are available to help encourage the baby to take a bottle and lactation consultants are available to help with breast-feeding.