What is an omphalocele?
An omphalocele is a congenital (present at birth) abnormality in which the organs of the abdomen stick out through an opening in muscles in the area of the umbilical cord. These organs are covered by a transparent membrane called the peritoneum.
The omphalocele may be small, with only a portion of the intestine sticking out of the abdominal cavity, or large, with most of the abdominal organs (including intestine, liver, and spleen) outside. More than two-thirds of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.
Babies born with an omphalocele frequently have other complications including:
- Poor lung development
- Intestines that are slow to handle food
- Heart malformations (20 percent)
- Beckwith-Wiedeman Syndrome (a condition typified by a large tongue, high insulin and low blood sugar)
- Chromosomal abnormalities
Symptoms and Causes
What causes an omphalocele?
It is not known what causes an omphalocele, or whether the mother can do anything during pregnancy to prevent it. Between the 6th and the 10th weeks of pregnancy, the intestines actually bulge into the umbilical cord as they are growing. By the 11th week of development, the intestines should return to the abdomen. When this fails to happen, an omphalocele occurs.
Diagnosis and Tests
How is an omphalocele diagnosed?
An omphalocele is often detected during the second and third trimesters of pregnancy using an ultrasound. Once discovered, a fetal echocardiogram (ultrasound of the heart) is frequently ordered to check for heart abnormalities before the baby is born.
Once born, the doctor will note the omphalocele and order x-rays to evaluate abnormalities of other organs or body parts.
Management and Treatment
How is an omphalocele treated?
Treatment for an omphalocele will depend on many things, including
- The extent of the condition;
- The baby's age and overall health;
- The baby's ability to tolerate medications; and,
- The parents’ wishes for the child’s treatment.
In the case of a small omphalocele, an operation will be done shortly after birth to return the organs to the abdomen and to close up the opening in the abdominal wall to prevent infection or any tissue damage.
For a large omphalocele that involves several organs, the surgery is often done in stages, moving the organs back into the baby's body over a period of several days. The surgery is done in stages because the baby's abdomen is too small and underdeveloped to hold all of the organs at once. During this time, the exposed organs are protected by a sterile, protective sheeting to prevent the risk of infection.
Babies with omphalocele who have underdeveloped abdominal cavities often have breathing difficulties and may need the help of a ventilator until they can breathe on their own.
Outlook / Prognosis
What is the prognosis (outlook) for a baby with an omphalocele?
If an omphalocele is the only obvious health problem that an infant has, he or she is expected to make a full recovery from it. However, since an omphalocele is often associated with other birth defects, the prognosis depends on these other conditions. Talk to your baby's physician about the prognosis for your baby.