Which are the symptoms of Gastroschisis?

Gastroschisis is a congenital abdominal wall defect characterized by the protrusion of the intestines outside of the fetus's body through a hole typically located to the right of the umbilical cord. Because the organs develop outside the abdominal cavity without a protective sac, the primary clinical concern at birth is the immediate protection and surgical repair of the exposed gastrointestinal tract.

What are the primary symptoms of Gastroschisis?

The hallmark symptom of Gastroschisis is the presence of the small and large intestines outside the abdominal wall. Unlike omphalocele, this defect does not have a protective membrane covering the organs, leaving the bowel directly exposed to amniotic fluid in utero. This exposure often leads to chemical irritation, causing the intestines to appear thickened, edematous (swollen), and matted at the time of delivery.

How does the severity of Gastroschisis vary?

Symptoms and clinical outcomes of Gastroschisis vary significantly based on the condition of the bowel. While some infants require a primary closure shortly after birth, others experience "complex Gastroschisis," which involves complications such as:

• Intestinal atresia: A blockage or narrowing of the bowel.


• Volvulus: A twisting of the intestine that cuts off blood supply.


• Perforation: A hole in the bowel wall leading to potential infection.


• Necrosis: Tissue death caused by prolonged exposure or strangulation.

When is immediate medical attention required?

Gastroschisis is typically diagnosed via prenatal ultrasound, allowing for delivery in a specialized center with neonatal surgical support. Post-surgery, parents must monitor for signs of bowel obstruction, which include bilious (green-colored) vomiting, abdominal distension, failure to pass stool, or signs of systemic infection. These symptoms require urgent evaluation by a pediatric surgeon, as they may indicate complications with gut motility or scarring.

How does Gastroschisis affect long-term quality of life?

While the majority of the 196 individuals with Gastroschisis in the DiseaseMaps community go on to lead healthy lives, some may experience long-term gastrointestinal issues. These can include chronic constipation, gastroesophageal reflux, or short bowel syndrome if a significant portion of the intestine was damaged or required resection. Ongoing management by a gastroenterologist is often beneficial during childhood.

Next steps

• Consult with a pediatric surgeon or neonatologist to discuss the specific surgical plan for your child.


• Connect with the community of 196 members on DiseaseMaps.org to share experiences and find support.


• Monitor for developmental milestones and follow up regularly with a pediatric gastroenterologist.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Gastroschisis Overview.


• Orphanet: Gastroschisis (ORPHA:3638).


• American Pediatric Surgical Association (APSA) Patient Resources.