OmphaloceleLearn More

• What is omphalocele?
• What is the outcome for a fetus with omphalocele?
• How serious is my fetus’s omphalocele?

What is omphalocele?

Omphalocele is an abdominal wall defect like gastroschisis in which the anterior abdomen does not close properly allowing the intestines to protrude outside the fetus. An omphalocele is different in that the organs are contained in a thin membranous sac instead of floating in the amniotic fluid. While the fetus is growing, the muscles of the abdominal wall do not form correctly. This allows some of the organs (stomach, liver, intestine) of the abdomen to protrude on the outside of the fetus's body through the umbilical cord.

During your pregnancy, you may have had an ultrasound which showed a problem outside your fetus's abdomen. Usually the doctor performing the ultrasound sees a bump on the outside of the abdominal wall. The ultrasound will be able to determine the size of the defect as well as identify the organs that are affected. You will not experience any unusual symptoms during the pregnancy.

What is the outcome for a fetus with omphalocele?

The outcome depends on the size of omphalocele and the presence of other defects, particularly chromosome abnormalities. Fetuses with small or medium-sized omphaloceles and no other problems do extremely well with surgical repair after birth. Fetuses with other abnormalities, particularly chromosomal defects is dependent on the severity of other problems and not necessarily the omphalocele itself. The outcome for fetuses with very large or so-called ‘giant’ omphaloceles, even when not associated with other problems, have a very difficult time after birth. Most will survive with a series of difficult operations after birth to return the organs to the abdomen and close the abdominal wall. This can be done with a series of operations in the neonatal period and may require a lengthy hospitalization; alternately, the repair can be delayed months or years. A few of these babies will be left with life-long problems including breathing and feeding difficulties.

How serious is my fetus’s omphalocele?

In order to determine the severity of your fetus's condition it is important to gather information from a variety of tests and determine if there are any additional problems. These tests along with expert guidance are important for you to make the best decision about the proper treatment.

This includes:

1. The type of defect—distinguishing it from other similar appearing problems.
2. The severity of the defect—is your fetus’s defect mild or severe.
3. Associated defects—is there another problem or a cluster of problems (syndrome).

Amniocentesis may be advised for chromosome testing. Sonography is the best imaging tool, but is dependent on the experience and expertise of the operator. Many problems are first detected during routine screening procedures performed in your doctor’s office (amniocentesis, maternal serum screening, routine sonography), but assessment of complex usually requires a tertiary perinatal/neonatal center with experience managing complex and rare fetal problems. We can work with your doctor to find a center convenient for you.

Accurate assessment requires three tests:

1. amniocentesis to assess the fetal chromosomes
2. a level II ultrasound to look for other anomalies and define the anatomy
3. a fetal echocardiogram to determine whether or not the fetus has a heart defect.

If the chromosomes are normal and there are no additional birth defects other than the omphalocele, the severity of the defect depends entirely on size of the omphalocele.   Small omphaloceles are easily repaired with a simple operation and a short stay in the nursery. Large omphaloceles may require staged repair over many weeks in the nursery. Giant omphaloceles require complex reconstruction over weeks, months, or even years.