Omphalocele
What is omphalocele?
An omphalocele is a congenital abnormality in which some of the abdominal organs of an infant protrude through an opening in the muscles near the umbilical cord. The organs are covered by a thin membrane, however, protecting them at birth from exposure to infection.
An omphalocele can be small — with only a portion of the intestine protruding outside the abdominal cavity — or large — with the intestine, liver, spleen, and other abdominal organs pushing outside the cavity. The abdominal cavity itself might also be small because of underdevelopment during pregnancy.
What causes omphalocele?
The cause of omphalocele is unknown. Although the development of the abdominal organs is normal, the organs are not in the proper place.
Who is at risk for developing an omphalocele?
A small type of omphalocele that involves only the protrusion of the intestines occurs in one in 5,000 babies, whereas a large type that sees a protrusion of the intestines, liver, and other abdomen organs happens to one in 10,000 babies. Boys have an omphalocele more often than girls.
Many babies who have an omphalocele have other conditions: 30 percent have a genetic disorder, most commonly Trisomy 18 and Trisomy 13, Trisomy 21, or Turner syndrome. Other infants with omphalocele have Beckwith-Wiedemann syndrome. More than half of babies with omphalocele have malformations of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.
When an omphalocele is isolated and no other malformations are present, the possibility for it to happen in a future pregnancy is one percent. Some families have had an omphalocele inherited as an autosomal dominant or X-linked recessive trait. In these cases, the chance for recurrence would be higher.
How is omphalocele diagnosed?
Omphaloceles are virtually all detected before birth during routine ultrasounds. A fetal MRI and heart ultrasound (echocardiogram) can also be used to detect other associated conditions.
How is omphalocele treated?
Treatment for omphalocele depends on the size and severity of your child’s omphalocele. For small omphalocele, the surgical repair is typically done within a day or two of birth, returning your baby's organs to the abdomen and closing the opening in the abdominal wall. For large omphalocele, surgical repair is done in stages and may include the following:
- Because the abdomen may be small and underdeveloped, it may not be able to hold all of the organs at once. In that case, the exposed organs are gradually moved back into the abdomen over weeks by gradual compression. This is called “paint and wait.”
- The abdominal wall is closed surgically once the organs have been returned to the abdominal cavity.
- If the abdominal cavity is small and underdeveloped, your baby may have difficulty breathing as organs are returned to the abdomen. Your baby will probably receive help breathing from a mechanical ventilator during this process. Many babies need a feeding tube to supplement their nutrition, either short or long term.
How we care for omphalocele
At Boston Children’s Hospital, the Maternal Fetal Care Center and the Department of Surgery work together develop a comprehensive treatment plan for your child. The outcome can range from no future impact to significant impact if the baby is born premature or with other associated conditions. Collaborating with other Boston Children’s clinical departments, we will work with you to ensure your child is on a path to recovery.
