Omphalocele

What is omphalocele?

OmphaloceleBefCR 

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

Omphalocele (um-fal-o-seel) occurs when some of the organs that normally are located in a baby’s abdomen 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 in the defect may be covered by a membranous sac, or the sac may rupture before, during or after delivery. 

Omphaloceles vary in size from very small to "giant." Small omphaloceles 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 involve other organs, such as liver, spleen and intestines. Giant omphaloceles may have a more guarded prognosis than small omphaloceles.

Are there associated birth defects?

Up to 50 percent of babies with an omphalocele will have an associated anomaly, or birth defect, including: 

  • Cardiac defects (most commonly seen; found in 19 to 32 percent of cases)
  • Neurological defects
  • Skeletal defects
  • Chromosomal defects
  • Urinary tract defects
  • Beckwith-Weidemann syndrome

Omphaloceles associated with other anomalies also may have a more guarded prognosis. 

What causes omphaloceles?

Omphaloceles occur more often in mothers older than 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 also know that omphaloceles are not caused by anything the mother ate or did during pregnancy.

How does the diagnosis of omphalocele affect my pregnancy?

If your baby is diagnosed with omphalocele, you likely will have to undergo some tests to confirm the diagnosis and check for additional abnormalities, and you will be asked to perform special monitoring later in the pregnancy.

Tests and monitoring include:

  • Targeted ultrasound: Doctors can confirm the diagnosis of omphalocele by ultrasound. 
  • Amniocentesis: Omphaloceles can be associated with some chromosomal abnormalities (up to 30 percent), so your doctor may offer an amniocentesis. 
  • Fetal echocardiogram: Your doctor may also recommend an ultrasound of your baby's heart (fetal echocardiogram). 
  • Regular ultrasounds: If your doctor diagnoses omphalocele, your baby will be monitored closely throughout the pregnancy. Your doctor will perform ultrasounds every 2 to 4 weeks to assess how well your baby is growing and to check the amniotic fluid volume and fetal well-being. 
  • Fetal movement counting: At about 28 weeks of gestation, your doctor will explain how to do daily fetal movement counting. 
  • Non-stress tests: Your doctor may schedule non-stress tests (a recording of the baby's heart rate while you are sitting and pressing a button each time the baby moves) at around 32 weeks of gestation. 
  • Biophysical profiles (BPP): Your doctor may also schedule weekly biophysical profiles (BPP). The BPP is an ultrasound that monitors amniotic fluid volume, your baby's breathing movements, and movements of the extremities. 

Will I have to deliver my baby a certain way?

As your due date gets closer, your doctor will discuss the method of delivery with you. It will depend upon the size of the omphalocele. If the size is quite large, and especially if the liver is involved, your doctor may prefer to do a cesarean section to avoid the risk of injury to your baby’s liver. Otherwise, the preferred method of delivery is vaginal.

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, doctors will examine your baby thoroughly for any other problems that would require intervention. How well your baby does depends on the presence and severity of related problems and also on the size of the omphalocele.

Babies with omphalocele need surgery soon after birth, so it is best if your baby is born at a hospital that can care for both you and your baby. This keeps you together and avoids the trauma of having to transport your baby to a different hospital after birth. It also helps reduce the time required to get the baby to surgery and decreases the chance of injury to the exposed bowel.

How do you treat omphalocele?

When the baby is born, the defect in the abdominal wall usually is covered with a membranous sac. However, if this sac is injured, the abdominal organs may be exposed. Exposed organs leave your baby at risk for infection, and the exposed organs can lose heat and fluids. Until surgery, doctors will cover the bowels with moist, warm, sterile gauze, and they will place the lower half of your baby's body in a bag to hold moisture and heat in. If the membrane is intact, placing a dry dressing on top of the membrane is usually sufficient.

If your baby has an omphalocele, he or she will need surgery. During surgery, the doctor will put the organs back inside your baby's abdominal cavity. If possible, all of the abdominal organs will be put back into the abdominal cavity during this first surgery. This is referred to as a "primary closure." If all of the organs do not fit, the surgeon may place the remainder of exposed bowel in a sac or "silo" and put the organs into the abdomen more gradually. In this case, surgeons will close the abdominal wall at a later time, in surgery, once all the bowel is inside the abdomen. 

Sometimes, as the bowel is moved into the abdomen, babies with this condition require 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 sac to be the protective barrier until the skin grows over it. Surgery would be postponed for 6 months to 1 year, and it would typically be done in stages until final closure.

OmphaloceleAftCR

An infant with a repaired omphalocele.

What should I expect after surgery?

After surgery, your baby may not be able to breathe effectively on his or her own due to the increased pressure on the diaphragm. Doctors will place a special tube (called an endotracheal tube or ETT) 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, your baby will not be able to make any noise because of the tube’s position in the vocal cords. This tube will stay in until your baby can breathe well on his or her own. 

Doctors also will pass another tube into your baby's stomach (either through the nose or mouth). This tube will be suctioned 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 your baby is in the operating room for surgery. These lines include: 

  • A central line will provide nourishment (vitamins, minerals, protein, calories, fat) for a prolonged period of time. 
  • An arterial line will be placed in one of the extremities. We can monitor blood pressure and remove blood for lab work through this line. 
  • Before your baby goes to surgery, doctors will place a peripheral IV line. This IV line may be placed in the hand, arm, scalp, foot or lower leg.

There are some other things you can expect during and after surgery, including:

  • 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 pain after surgery. 
  • 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 or her body adjusts to the pressure of the bowels being back in the abdomen.

Because babies with omphalocele cannot eat for a prolonged period of time, doctors will give special nourishment through the central line. Total parenteral nutrition is an IV solution that contains protein, fats, sugar, vitamins and minerals. This will supply your baby with all of his or her nutritional needs until he or 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 your baby that the bowels are beginning to work. These signs include: 

  • Bowel sounds
  • Spontaneous passing of stool
  • Decrease in the amount of drainage coming from the tube in your 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 breastfeeding your baby, you can begin to pump your breasts while you are still in the hospital. A lactation consultant can answer your questions. Your milk will be frozen and stored in the Neonatal Intensive Care Unit until your baby is ready for it. The NICU has breast pumps and private rooms available to you when you are visiting. 

When can my baby go home?

Your baby will go home when he or she is eating and tolerating enough food to grow. A typical baby with omphalocele will be in the NICU for approximately 4 to 8 weeks. Time in the NICU will depend upon on the size of the omphalocele and the presence and extent of related 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. Your baby may be in the hospital for 3 to 6 months. A lot of time will be spent helping your baby learn to eat. 

Speech therapists are available to help encourage your baby take a bottle, and lactation consultants are available to help with breastfeeding.