Omphalocele and Gastroschisis: Congenital Abdominal Wall Defects in Infants

Omphalocele and gastroschisis are two types of birth defects that can occur in newborns. They are congenital abnormalities of the abdominal wall. These defects happen when the abdominal wall and membrane, which normally enclose the bowel inside the abdomen, form improperly and parts of the bowel protrude or extend outside the newborn’s body. Body organs can also be affected by these conditions. Both omphalocele and gastroschisis can be repaired with surgery.

What is Omphalocele?

In a newborn with this abnormality, the intestines or other body organs extend outside the infant’s abdominal cavity through an opening in the area of the umbilical cord. The protruding intestines or organs are covered with a thin-like membrane.

The cause for an omphalocele is unknown. However, an omphalocele can occur as the fetus develops inside the mother’s uterus. As the fetus grows during the first trimester of pregnancy, the developing intestines extend into the umbilical cord and should return to the abdomen by the eleventh week of fetal development. An omphalocele occurs when muscles in the abdominal wall fail to close properly and intestines do not return to the abdominal cavity. An omphalocele can be either small or large depending on the amount of intestines, or other organs like the liver that are outside this cavity.

The National Library of Medicine and the National Institute of Health report that about 25 to 40 percent of newborns with an omphalocele also have other birth defects. These problems can include chromosomal abnormalities, malformation of the heart, and a condition called Beckwith-Wiedemann syndrome.

What is Gastroschisis?

With gastroschisis, there is also an opening in the abdominal wall through which internal organs spill out of the abdominal cavity. The opening develops in the same manner as with an omphalocele, and the opening can also be small or large. However, in newborns with gastroschisis, the aperture is usually located on the right side of the umbilical cord and the organs are not covered with a membrane. Since the organs are uncovered in the amniotic fluid, there is a greater chance of infection or damage to them.

As with omphalocele, the cause for gastroschisis is also unknown; however, most infants born with this condition are born to young women who are either in their late teens or early twenties. According to the Children’s Hospital Boston, this condition is observed in approximately one out of five thousand infants.

How are Omphalocele and Gastroschisis Diagnosed?

During the second and third trimesters of pregnancy, an omphalocele is usually detected with ultrasound testing. Once this condition is diagnosed, a fetal echocardiogram can be performed to check for heart abnormalities.

Gastroschisis can be detected prenatally during the second trimester of pregnancy. If the mother’s alpha-fetoprotein levels are found to be high, an ultrasound test can confirm this abnormality in the fetus.

Treatment of Omphalocele and Gastroschisis

Omphalocele and gastroschisis require surgical repair once the child is born. Treatment for an omphalocele can depend on a number of factors that can include the severity and size of the abnormality, presence of other abnormalities like heart problems, and the infant’s overall health.

Infants born with gastroschisis can have problems with the bowel because of prolonged exposure to amniotic fluid. This can cause inflammation or stretching of the bowel. There are also other problems associated with gastroschisis such as twisting of the bowel. When considering treatment options, the size of the gastroschisis is another important factor.

There are two types of repair surgery possible for both omphalocele and gastroschisis. Surgery can be performed either in a single operation or in stages. For a small omphalocele or gastroschisis without other complications, surgery is usually performed immediately to return the exposed organs into the abdominal cavity and close the opening.

When the gastroschisis or omphalocele is large or involves other organs, the surgery is performed in stages over a period of a few days. Staged repair surgeries are required because a newborn’s abdomen may be small or underdeveloped.

Long-Term Effects

The long-term result of gastroschisis and omphalocele surgical repairs can be good for infants with small defects. However, the prognosis may not be the same for infants born with an omphalocele and have other birth defects. Likewise, the prognosis for children born with a gastroschisis can depend on the damages suffered by the bowel. One possible complication of gastroschisis is a condition called short bowel or short-gut syndrome.

In these cases, infants may need other surgeries and monitoring by a pediatrician.

Dr. Vikram Tarugu is a board certified gastroenterologist serving Florida residents and visitors. Call him to schedule your next colonoscopy, EGD, Endoscopic Ultrasound procedure.


Rate our Clinic