Gastroschisis and omphalocele as congenital defects of the anterior abdominal wall

Abstract

Ventral abdominal wall defects are congenital malformations characterized by evisceration of abdominal contents, which are distinguished from one another by their anatomical manifestations. Among the most common are gastroschisis and omphalocele. These are rare defects, with current worldwide incidences ranging from 1:3,000 to 1:10,000 for omphalocele and from 1:20,000 to 1:30,000 for gastroschisis in live newborns. The outcome of patients with gastroschisis depends on the vulnerability of the intestine, whereas in those with omphalocele, it depends on other associated anomalies and pathologies. Both share the characteristic of herniation or evisceration of one or more organs from the abdominal cavity. To analyze the entity based on a case of simultaneous gastroschisis and omphalocele. We describe the case report of a 22-year-old pregnant woman referred to the Provincial Center of Genetics in Santiago de Cuba at 14.4 weeks of gestation with a presumptive diagnosis of two simultaneous anterior abdominal wall defects. The diagnosis was confirmed, and voluntary termination of pregnancy was performed. Anterior abdominal wall defects are diagnosed early by ultrasound. These defects have a high mortality rate, even with appropriate treatment; although novel techniques are approaching expected survival rates, complications and associated malformations persist. Providing adequate genetic counseling allowed for management decisions consistent with the real postnatal prognosis.