Prenatally diagnosed omphalocele - What more to look for?

Omphalocele is a surgically treatable condition that can be isolated or may be associated with other malformations. In case of prenatal diagnosis of omphalocele, detection of associated malformations antenatally has great importance in providing prognosis and genetic counselling. Present paper emphasizes the various malformations, which need to be looked for when omphalocele is detected prenatally. We present a retrospective study of types of associated malformations and chromosomal anomalies in 21 cases of omphalocele in fetuses during the period from 1993 to 2003. Out of 21 fetuses, 5 had OEIS, 2 had LBWC and Pentology of Cantrell each, 8 had associated neural tube defects, 1 had trisomy 18, 1 had achondrogenesis and 2 were unidentified syndromes. In utero diagnosis of omphalocele indicates a detailed ultrasonographic examination to exclude additional anomalies, fetal echocardiography and amniocentesis for karyotyping. The risk for a syndromic association becomes small when no additional malformations and chromosomal abnormalities are detected.