Definition of Omphalocele
According to the Centers for Disease Control and Prevention (CDC) one out of every 5,386 babies (about 775) are born with omphalocele (om-fa-lo-seal) in the United States annually.
Omphalocele is a congenital birth defect, which means that it is present at birth.
In this case, the abdominal wall has failed to close and the abdominal organs remain outside the body in a sac at the base of the umbilical cord.
Since the organs have not developed inside the body, the baby’s lungs and abdominal cavity may be smaller than normal and underdeveloped.
"A giant omphalocele occurs in 1 in every 10,000 live births and is when the majority of the liver herniates into the umbilical cord." (1)
A small omphalocele occurs in 1 in every 5,000 live births and is when only some of the intestines develop outside the abdomen.
More than 30 percent of babies born with omphalocele have other birth defects, as well, such as atrial septal defect, neural tube defects, and chromosomal defects ( eg: Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome or triploidy). (2).
Causes and Risk Factors of Omphalocele
In utero, the intestines actually do protrude into the umbilical cord when they are developing (6 to 10 weeks gestation). By the eleventh week, the intestines are supposed to return to the abdominal cavity.
When this doesn’t happen, omphalocele occurs.
Researchers and doctors still don’t know what causes omphalocele, but they do know that women who consume alcohol, smoke more than a pack a day, take certain selective serotonin reuptake inhibitors (SSRIs), or are obese during pregnancy, are at greater risk for having a baby with omphalocele.
How is Omphalocele Treated?
Once omphalocele is discovered on a routine ultrasound, an amniocentesis is scheduled to determine the presence of any chromosomal abnormalities.
With small omphalocele, a vaginal delivery may still be possible. Giant omphalocele, however, will most likely require a caesarean section delivery to prevent trauma to any of the organs.