What Is Omphalocele?

Omphalocele is a birth defect of the abdominal wall. It affects a fetus as it’s growing inside the mother. 

Normally, when a fetus is 6 to 10 weeks along, part of the developing intestines push outward into the umbilical cord. In normal development, the intestines retract back into the fetus by week 11.

‌When a baby is born with omphalocele, the intestines fail to retract, and they remain outside. Other organs that are usually located in the stomach cavity can also shift, along with the intestines, outside the body of the fetus. Cases of omphalocele vary in complexity depending on the organs affected.

‌Omphaloceles can be confused with a similar condition called gastroschisis, but there are several key differences between the two.

What Causes Omphalocele?

We don’t know exactly what causes omphalocele, but its development has been linked with several genetic and chromosomal abnormalities. It might also be influenced by other factors, such as the mother’s habits during pregnancy, or it could happen due to a combination of reasons. 

‌Omphalocele is usually first diagnosed through ultrasound. The technician may see an abnormality in the abdominal area during a routine scan and investigate further. Sometimes it’s only diagnosed after the baby is born. 

‌The mother’s health during pregnancy is very important for the proper development of a baby. These factors can increase the risk of an omphalocele in the fetus: 

  • Alcohol use. Alcohol consumption during pregnancy is linked to omphalocele. 
  • Tobacco use. Women who use tobacco while pregnant are at an increased risk of their unborn child developing omphalocele. 
  • SSRIs. Women who use selective serotonin-reuptake inhibitors (SSRIs) during pregnancy are more likely to have a baby with omphalocele. SSRIs are usually found in medications like antidepressants. 
  • Obesity. Obesity in expectant mothers can also pose a risk to the fetus. Omphalocele is more likely when the mother is obese. 

Omphalocele Versus Gastroschisis

Gastroschisis and omphalocele are both conditions in which the organs in the stomach cavity spill through the outer abdominal wall. The two are often confused, but they are not the same. 

In omphalocele, there is an opening directly in the center of the abdominal wall at the belly button. The umbilical cord is found at the center of the opening. A small sac holds the intestines and, in some cases, other organs. ‌

Continued

Omphalocele often accompanies other birth defects. It’s not uncommon when heart defects, kidney defects, or chromosomal abnormalities such as Down syndrome are also present. 

‌Gastroschisis looks similar to omphalocele — with the baby’s intestines outside the body. In gastroschisis, the internal organs also spill from an opening in the stomach cavity, but the opening is usually located to the right of the umbilical cord. There is also no protective sac to house the organs. The amniotic fluid that surrounds the baby inside the uterus can cause irritation or inflammation of the organs.

Impact of Omphalocele on Health

In the United States, 1 in every 4,200 babies has omphalocele. The impact of omphalocele on a baby’s health after birth depends on the severity of the case and how well treatment works. If the baby was born with other birth defects, these could also affect overall health and recovery. ‌

Omphaloceles are categorized as small to medium-sized, large, or giant. The size depends on how many organs are inside the sac. Babies who have a large omphalocele diagnosed before birth are often delivered by cesarean to minimize risk. 

‌Surgery usually happens shortly after birth to replace the organs inside the body. Small omphaloceles may require only one surgery and a short recovery period. More surgeries could be necessary if there are multiple organs in the sac. ‌

‌If the omphalocele is giant, it could mean longer recovery periods after surgery. Some infants need breathing assistance from a ventilator while their lungs and bodies get used to the organs. 

‌It’s possible for some organs to remain outside the baby’s body in between surgeries. A painless drying agent or protective cover is applied to the sac. Parents are taught how to provide proper care for their baby in the meantime and what symptoms to look for if there are any complications. 

Treatments for Omphalocele

Surgery is the main treatment for omphalocele and is usually carried out by a pediatric surgeon. This often means only one surgery for a small omphalocele that contains the intestine or part of the intestine. Surgery on larger omphaloceles becomes slightly more complicated and is usually done in stages. 

‌Overall recovery depends on a few factors: 

  • the size of the omphalocele
  • the health of the organs
  • other birth defects or abnormalities that can affect the healing process and overall infant health
WebMD Medical Reference Reviewed by Dan Brennan, MD on June 02, 2021

Sources

SOURCES: 

‌CDC: “Facts about Omphalocele,” "Gastroschisis"

‌Children’s Hospital of Orange County: “Omphalocele.”

‌Children’s Hospital of Philadelphia: “Omphalocele.”

Merck Manuals: “Abdominal Wall Defects (Omphalocele and Gastroschisis).”

‌UCSF, Benioff Children’s Hospitals: “Omphalocele.”

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