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What is an Omphalocele?
An omphalocele is a condition in which the fetus’s abdominal organs, such as intestines or bowel, protrude outside of the abdominal wall into the umbilical cord.  The size of the omphalocele can vary from very small, including a small amount of intestine or bowel, to a “giant” omphalocele, including most of the organs from the abdomen.  Omphaloceles often cause problems in the development of the abdominal cavity and the lungs.

Omphaloceles happen in about 1 in 5,000 babies, and only 1 in 10,000 babies have a “giant” omphalocele, which includes the liver.

How is an Omphalocele diagnosed during pregnancy?
An omphalocele is typically diagnosed during a routine ultrasound.  Then, at the St. Louis Fetal Care Institute, we perform further tests such as a karyotype, a Level II ultrasound, an MRI, and a fetal echocardiogram (ECG) to learn more about the size and severity of the omphalocele.  This will help our physicians inform your family about the treatment options.



How are Omphaloceles treated?
Usually, there is no reason to perform fetal surgery for omphalocele, but the delivery should be planned because babies with omphalocele require surgical correction in the newborn period.  If the omphalocele is small, a vaginal delivery may be possible, but if the omphalocele is large, the mother may have to deliver the baby via Cesarean section to prevent rupture of the omphalocele sac.  

For small and medium-sized omphaloceles, the defect in the abdominal wall can usually be closed with a single operation after the baby is born.  The pediatric surgeon places the organs back into the abdominal cavity, then closes the opening by bringing the muscles together. Sometimes a synthetic patch is required to close the hole in the abdominal wall.  

In cases of “giant” omphalocele, the situation is more difficult.  Often there is no space in the abdomen to replace the organs.  So, the omphalocele sac is dressed like a wound and allowed to heal, becoming covered with skin over time.  Once covered with skin, the healing process to close the omphalocele becomes a long term process over several months to years.  The omphalocele sac is closed using a few operations when the baby is much stronger and larger.  

How will an Omphalocele affect my baby after delivery and surgery?
Depending on the severity of the omphalocele, it’s effects can range from very mild to very severe.  If there are no other defects and the omphalocele is small enough, your baby is likely to do very well after surgery and develop normally.  

However, if the omphalocele is also accompanied by other birth defects, complications are more likely—often not from the omphalocele, but from the other defects.  About 30% of babies with omphalocele have a genetic defect.  This can affect long term development.  Many also have heart defects which may require surgery.  

Babies with “giant” omphaloceles will likely have other challenges after birth, including difficulties with lung development and feeding difficulties.  These problems can cause long-term need for mechanical ventilation, tube feeding, and a longer hospitalization.

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Seven Facts About Omphalocele
In honor of Omphalocele Awareness Day on Jan. 31, 2014

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