CHROMOSOMAL-ANOMALIES IN NEWBORNS WITH OMPHALOCELE

Omphalocele is the most common congenital abdominal wall defect; its r eported incidence is 1 in 4,000 to 5,000 live births. With large defec ts, the liver is a median organ and lies within the sac (extracorporea l liver [ECL]). With small defects, only bowel or stomach is found out side the abdominal cavity (intracorporeal liver [ICL]). The goal of th is study was to determine whether a relationship exists between the sa c contents or the timing of diagnosis and the incidence of chromosomal abnormalities or survival among fetuses and newborns with omphalocele . From 1985 to 1995, 83 cases of omphalocele were managed at the autho rs' institution. In 50 cases the diagnosis was made using prenatal ult rasonography. All patients underwent fetal cardiac echography and amni ocentesis. Twenty-four pregnancies were terminated electively because of severe associated anomalies. Of the 59 live births, 41 patients (69 %) survived. The incidences of cardiac, chromosomal, and other anomali es were 24% (14), 10% (6), and 21% (16), respectively. Omphalocele wit h ICL is associated with a better survival rate than omphalocele with ECL (82% v 48%; P <.01) despite the significantly higher rate of karyo type abnormalities (16% v 0%; P <.05). The prognosis was poorer for pa tients with prenatally diagnosed omphalocele than for those with a pos tnatal diagnosis (mortality rate, 42% v 21%) because the former group had a higher percentage (70% v 9%) of ECL. Although the incidence of c ardiac anomalies was similar for the ECL and ICL groups (33% v 18%), t he former had more complex malformations. Death usually occurred in ne wborns who had neonatal respiratory distress owing to prematurity, or in those with chromosomal or cardiac anomalies. Chromosomal anomalies occurred mainly in cases of small omphaloceles that contained gut only , and it was the major cause of death among this group. In ECL cases, survival was primarily affected by the associated complex cardiac anom alies. Copyright (C) 1996 by W.B. Saunders Company