Birth Defect: Gastroschisis

Although this is considered a rare birth defect, it still affects 1 in every 2,229 babies, with 1,871 annual reported cases (CBC). Gastroschisis effects younger mothers more often than older pregnant mother. It is characterized by the stomach and bowel forming on the outside of the baby’s abdomen, because the abdominal wall does not properly close.

By the twelfth week of pregnancy the baby’s intestines will have grown at an extremely fast rate. It will distend into the umbilical cord and move back into the abdominal cavity. The umbilical cord will continue to steadily grow stronger, wider, and thicker.

This birth defect will normally occur during the fourth week, which is within the first trimester of pregnancy. The deformity is normally around 2″ or less and located on the right side of the umbilicus (belly button).

Most often than not the bowel will have developed fully and other birth defects are not present. In 10% of the cases reported the intestines will not be fully developed.

Etiology

There has not been a genuine cause linked to Gastroschisis, but many medical experts think it may be linked to heredity. Although, women that have given birth to one child that was diagnosed with this defect, does not put your second or third child at a higher risk.

Symptoms

Besides the intestines being formed and located on the outside of the baby’s abdominal wall, they also may be edematous, inflamed, and damaged.

Diagnosis

Gastroschisis can be determined through ultrasound, which is ordered during the second trimester (14-26 weeks). Congenital deformities can be determined during weeks 18-20. In this case, the intestines will be floating in the amniotic fluid and can be detected through the advanced ultrasound.

Congenital Testing

Maternal blood testing will be ordered to check for the presence of alpha-fetoprotein. If MSAFP is present, it can be a high potential for an opening of the fetal spine or abdomen. This will be followed up with a 3-D ultrasound.

Treatment

Treatment is based on the severity of the deformity. A primary repair procedure will be completed in cases that only a small portion of the bowel has formed on the outside of the abdomen.

A staged repair is ordered, when a large portion of the bowel is formed on the outside of the abdominal wall. These multiple surgeries are completed over a specific amount of time (7-10 days).

  • Silo (pouch) will be affixed to the abdomen and wrapped around the intestines. Every day the silo is tightened, which will push the intestines back into the abdomen. When a large portion or all of the intestines have been pushed into the abdomen, a surgery to close the abdominal wall will be performed.
  • The infant may require artificial ventilation during this process.
  • The silo staged repair procedure is completed to prevent the risk of sepsis, abdominal compartment syndrome, and hypovolemic shock.


Prognosis

Many infants that are born with Gastroschisis will face a long recovery and future complications. The intestines may not be able to absorb nutrients properly, which will lead to failure to thrive. There may be liver complications, as well.

Other intestinal surgeries including small bowel resection, which may lead to
short bowel syndrome may be required. This condition can also prevent the intestines from absorbing the appropriate amount of nutrients from food, since a large portion of the small intestines is missing.