Gastroschisis

What is gastroschisis?

Gastroschisis refers to a birth defect affecting the frontal abdominal wall that is caused by a prenatal developmental abnormality. It creates a gap in the abdominal wall aside the belly button, letting the child's internal abdominal organs slip through into the amniotic cavity. Because there is no hernia sac, the intestinal loops come into direct contact with the amniotic fluid. Particularly in the third trimester, the amniotic fluid can harm the normally well-protected intestinal loops, so that inflammation and adhesions of the intestinal wall can occur. In order to prevent further intestinal loop damage at birth, a preterm delivery is usually carried out by means of cesarean section.

This malformation affects approximately one newborn in every two to three thousand births. Both male and female babies are more or less equally affected. Children diagnosed with congenital gastroschisis have a mildly increased risk of additional malformations of the gastrointestinal tract.

How and why does gastroschisis develop?

This abdominal wall defect arises in early pregnancy during embryonic development. So far, the exact cause is uncertain. However, two theories are being discussed as responsible causes for the development of the condition. Intestinal parts could have moved into the umbilical cord during development, causing it to expand and tear at one point, so that the intestinal loops can access the amniotic fluid. A different hypothesis involves a prior vascular malformation being responsible for the development of a hole.

Some of the risk factors associated with gastroschisis include alcohol and drug abuse during pregnancy, as well as smoking. Furthermore, very young maternal age can play a role and also gastroschisis affects first-time mothers more frequently.

How and at what time is gastroschisis diagnosed?

It is possible to detect gastroschisis during the pregnancy by performing ultrasound. Usually the defect can be recognized from the start of the second trimester onwards, as the intestinal loops can be seen outside the fetus in the ultrasound. Following the diagnosis, it is recommended to consult a specialized center to plan the birth and discuss postnatal treatment. The delivery is followed by a thorough physical examination of the child and the prolapsed bowel to assess any damage, inflammation or adhesions affecting the bowel loops. An additional X-ray examination may also be performed.

What is the treatment of gastroschisis?

To prevent additional damage to the prolapsed intestinal loops, babies with gastroschisis are being delivered by cesarean section. The birth is immediately followed by surgery, in which the intestinal loops are placed back into the abdominal cavity through the abdominal wall defect. Often this can be done in one sitting, but in certain cases the procedure must be performed in two stages. The reason for this may be a disproportion between the potentially enlarged loops and the size of the abdominal cavity, given that the intestinal loops may present with inflammation and adhesions resulting from the irritation by the amniotic fluid. If this occurs, the intestinal loops are initially enclosed in a sterile plastic bag that is sutured to the abdominal wall, which is referred to as silo repair. Gravity causes the gradually swelling intestinal loops to move back into the abdominal cavity and after a few days the abdominal wall can be closed. Nutritional support may slowly be established after the operation. At first, the newborn receives parenteral nutrition through a vein. Only once normal diet is established, the newborn may be discharged from the hospital.

Prognosis and chances of cure

Gastroschisis promises an overall very good prognosis. Although the initial phase of gradual nutritional buildup is more challenging, affected children are able to gain appropriate weight in the long-term just like unaffected children. Frequent follow-up sessions should be scheduled for the initial period after surgery, and longer intervals between the appointments are possible later on. Also the cosmetic result of the operation is normally very good, making the scars located on the side of the belly button hardly visible.

Which doctors and clinics specialize in the diagnosis and treatment of gastroschisis?

Children affected by gastroschisis are treated by physicians that specialize in pediatric surgery. Upon diagnosis, the children are usually referred to a center specializing in gastroschisis as the condition requires particular expertise. Further treatment is then provided in cooperation with the pediatrician.

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