It is a congenital disability in which your baby’s intestine or other abdominal organs (such as the spleen and liver) protrude from the abdomen toward the base of the umbilical cord.
What is outside the abdomen is covered with a thin membrane (which is one of the ways this condition is different from gastroschisis, a similar defect).
Causes and symptoms
Omphalocele occurs very early in pregnancy when the abdominal cavity does not usually form. The abdominal cavity typically begins at three to four weeks of gestation when the disc-shaped embryo swells.
A large or “giant” omphalocele forms when there is a failure of lateral inflation of the embryo, resulting in an inadequate abdominal cavity with containment of the abdominal organs only by a thin, transparent membrane called the omphalocele sac.
The smallest omphaloceles also called “spinal hernia,” form later (eight to eleven weeks gestation) after average embryo inflation occurs (resulting in a formed abdominal cavity).
A minor defect usually only contains the intestine when the umbilical ring does not close around the umbilical cord. Small omphaloceles are more likely to be associated with chromosomal defects or syndromes.
Older mothers are at a higher risk of having babies born with an omphalocele. It is a rare defect in one in 4,000 to 7,000 births. Many babies with an omphalocele have other congenital disabilities as well.
How is the condition diagnosed?
The diagnosis of omphalocele is made by ultrasound at 12 weeks. Since babies with omphaloceles are more likely to have congenital disabilities, your doctor will review diagnostic tests for chromosomal or genetic abnormalities.
Amniocentesis may be done to evaluate chromosomal abnormalities or genetic syndromes. You will meet with a genetic counselor who will explain the results of all of these tests.
The baby’s heart will be carefully evaluated for any abnormalities, and a fetal echocardiogram may be ordered if a heart defect is suspected.
If your baby has other problems, you can also meet with specialists like pediatric cardiologists and geneticists.
Doctors will recommend the safest method of delivery for you and your baby based on the size and content of the omphalocele. If the omphalocele is small and does not affect the liver, vaginal delivery may be possible.
Babies with large omphaloceles or liver in omphalocele are received by cesarean section to protect the omphalocele and prevent organs from rupturing or bleeding, which can be life-threatening.
Treatment of an omphalocele
Right after delivery, there will be a transparent, protruding, fluid-filled sac from the womb of the newborn. You may be able to see the contents inside the sac and see the baby’s intestines or other organs.
The baby’s umbilical cord will be at the top of the sac. While the baby is in the delivery room, to protect the intestine to protect intestines, the sac will be kept moist and covered the protection the intestines.
Particular attention is paid to respiratory support, as babies with giant omphaloceles often have tiny lungs and require a breathing tube and ventilator.
The baby will need to be in a particular NICU unit, which cares for sick babies after birth. The neonatologist and pediatric surgeon will work together to decide when the baby should have surgery.
If the newborn’s omphalocele is small enough, surgery can be done shortly after delivery. The pediatric surgeon will return the intestine and other organs to the abdomen and close the opening.
If the omphalocele is larger, the baby’s belly will have to grow large enough to make room for the organs before surgery can be done.
The newborn will undergo immediate surgery if the sac should rupture before the problem is fixed.
Sometimes the omphalocele may be too large to repair right away. The skin will grow to cover the sac with the help of medications, good skincare, and nutrition.
If this happens, the baby will have surgery to close the belly muscles in six to twelve months when the belly is more prominent.
Babies who wait to grow before surgery often go home to their families once they are eating well and the family has learned how to change the bandage and protect the sac.
How will an omphalocele affect the baby during and after surgery?
The survival rate is more than 90% if the baby’s only problem is an omphalocele. The survival rate for babies with an omphalocele and severe problems with other organs is about 70%.
Babies with small omphaloceles and no associated congenital disabilities generally do well with close follow-up by their pediatric surgeon.
The baby may have difficulty eating, reflux, delayed growth, intestinal obstruction, and long-term breathing problems.