Q79.3

Clinical Causes: Exact cause of gastroschisis remains unknown, but it is believed to result from a combination of genetic and environmental factors. Potential contributing factors include maternal smoking, young maternal age, and certain medications during pregnancy. Vascular disruptions during early fetal development might also play a role in the abnormal formation of the abdominal wall. Environmental exposures, such as drugs or chemicals, may increase risk, though definitive links are still under investigation.

Key Symptoms: Protrusion of intestines and sometimes other abdominal organs outside the baby’s body through a defect near the navel. Visible abdominal wall defect on prenatal ultrasound or at birth. Increased risk of inflammation or infection of the exposed organs if not properly managed. Potential complications include bowel twisting (volvulus), which can compromise blood supply and cause tissue damage.

Diagnosis Path: Diagnosis of gastroschisis is typically made through prenatal ultrasound scans, which reveal the presence of abdominal organs outside the baby’s body. After birth, physical examination confirms the defect. Additional imaging tests, such as X-rays or MRI, may be used to assess the condition of the intestines and plan surgical repair.

Treatment Protocols: Treatment generally involves surgical intervention shortly after birth to reposition the organs within the abdomen and close the opening. The specific approach depends on the size of the defect and the condition of the organs: - *Primary Closure*: Directly closing the abdominal wall defect during surgery. - *Staged Repair*: Using a silo (a temporary protective covering) to gradually reduce the organs back into the abdomen before closing. Postoperative care includes managing nutrition, preventing infections, and monitoring for complications such as bowel obstruction or infection. Long-term outcomes usually depend on the severity of the defect and associated complications. Infants with gastroschisis often require ongoing medical support to address nutritional and developmental needs as they grow.