Gastroschisis Symptoms and Diagnosis

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What are the symptoms and causes of gastroschisis?

In gastroschisis, an opening in the abdominal wall – the muscles and skin of the abdomen – does not properly close, allowing for the baby’s intestines and sometimes other abdominal organs to be outside of the body. During normal early development, the intestines develop outside the growing fetus and then get “pulled in” to the abdominal cavity with the abdominal wall then sealing around them. This process does not properly occur in gastroschisis, allowing the intestines to remain outside of the abdomen through the opening. The cause(s) of gastroschisis are not known.

The intestine can be damaged by gastroschisis in a number of ways. About 85% of babies with gastroschisis have “uncomplicated” gastroschisis, meaning that after birth their abdomen is able to be closed and the intestine is healthy. However, in about 15% of patients, intestinal or other complications can occur. One such complication is poor motility of the intestine; even though all of the intestine is present, it does not squeeze food through properly, leading to difficulty with feeding. Alternatively, as the baby grows, the opening of the abdominal wall may become smaller and may tighten around the intestine, possibly causing the intestine to lose its blood supply. Another possibility is that the intestine can twist around itself, strangulating its own blood supply. In these cases, the intestine may need to be partially removed. The only major associated disease process that occurs with gastroschisis is intestinal atresia, wherein the intestinal tube is blind ending, and a small or large length of intestine may be missing. In all of these cases, intestinal dysfunction can result and your baby may not be able to properly tolerate feeding. Here at Boston Children’s Hospital, babies that fall into this category have the benefit of having their nutrition and management optimized through collaboration with the team in our Center for Advanced Intestinal Rehabilitation (CAIR).

Diagnosing Gastroschisis in Children

Gastroschisis is often able to be visualized prenatally, by ultrasound. In most cases, pregnant women will be referred to a pediatric surgeon, such as those available for prenatal counseling in our Advanced Fetal Care Center.

Otherwise, if gastroschisis is first recognized at birth, the diagnosis is apparent and the treating providers will usually transfer the baby immediately to a hospital with pediatric surgeons and appropriate neonatal intensive care capabilities.

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