Giant Omphalocele Complicated by 9P Minus Syndrome

Omphalocele is characterized as a ventral wall defect in which there exists a midline herniation of abdominal viscera into the base of the umbilical cord. Fetuses with a diagnosis of this entity are at a significantly increased risk of having an aneuploidy, additional anomalies, or associations with other syndromes such as Beckwith Wiederman. Secondary to these interconnections, there is an elevated risk of fetal loss in affected pregnancies. Detection of concordant abnormalities, appropriate genetic counseling, and involvement of pediatric subspecialties are paramount in affording a prognosis, and providing optimal perinatal management of omphalocele.