Omphalocele and Gastroschisis Precision Panel

Overview

• Omphalocele, also known as exomphalos, is a midline abdominal wall defect at the base of the umbilical cord where herniation of abdominal contents takes place. The herniated organs are covered by the parietal peritoneum. The cause of omphalocele postulated to be a failure of the bowel to return into the abdomen by 10-12 weeks. Omphaloceles are associated with other anomalies in more than 70% of the cases, generally chromosomal, and the severity is dictated by the anomalies that are present. The main difficulty of this condition is the exclusion of associated conditions, not all diagnosed prenatally. Gastroschisis represents a herniation of abdominal contents through a paramedian full-thickness abdominal fusion defect. The abdominal herniation, in contrast with omphalocele, is usually to the right of the umbilical cord. It usually contains small bowel and has no surrounding membrane. Challenges in management of gastroschisis are related to the prevention of late intrauterine death, and the prediction and treatment of complex forms.  
• The Igenomix Omphalocele and Gastroschisis Gene Panel can be used to as a screening tool for underlying genetic alterations associated to these conditions. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. 

Indication

• The Igenomix Omphalocele and Gastroschisis Gene Panel is indicated for those patients with a clinical suspicion of omphalocele and/or gastroschisis which manifest as: 
  • Herniation of intestines through abdominal wall 
  • Polyhydramnios in utero 
  • Elevated levels of maternal serum a-fetoprotein (MSAFP) 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.    
• Early initiation of treatment with a multidisciplinary team for caesarean delivery, surgical repair and management of underlying associated conditions to prevent complications and ultimately lead to a better prognosis of the disease. 
• Risk assessment of asymptomatic family members according to the mode of inheritance. 

Genes & Diseases