It is a birth defect 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 form normally. The abdominal cavity normally forms at three to four weeks 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, clear membrane called the omphalocele sac.
The smallest omphaloceles, also called “spinal hernia”, form later (eight to eleven weeks gestation) after normal embryo inflation occurs (resulting in a formed abdominal cavity).
When the umbilical ring does not close around the umbilical cord, a small defect occurs that usually only contains intestine. 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 that occurs in one in 4,000 to 7,000 births. Many babies with an omphalocele have other birth defects 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 birth defects, 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.
You can also meet with other specialists, such as pediatric cardiologists and geneticists, if your baby has other problems.
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, a vaginal delivery may be possible.
Babies with large omphaloceles or with the 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, from the womb of the newborn, there will be a transparent, protruding, fluid-filled sac. 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 the intestines the sac will be kept moist and covered for the protection of the intestines.
Particular attention is paid to respiratory support, as babies with giant omphaloceles often have small lungs and often require a breathing tube and ventilator.
The baby will need to be in a special unit called the NICU, which cares for sick babies after birth. The neonatologist and pediatric surgeon will work together to decide when it is best for the baby to 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.
If the sac should rupture before the problem is fixed, the newborn will undergo immediate surgery.
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 skin care, and nutrition.
If this happens, the baby will have surgery to close the belly muscles in six to twelve months when the belly is larger.
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 who have an omphalocele and serious problems with other organs is about 70%.
Babies with small omphaloceles and no associated birth defects generally do well with close follow-up by their pediatric surgeon.
The baby may have some difficulty eating, reflux , delayed growth, and intestinal obstruction, and may have long-term breathing problems.
The baby may also be more prone to disease than other babies, so close follow-up with your pediatrician will be important.