PREDICTION OF AN ABNORMAL KARYOTYPE IN FETUSES WITH OMPHALOCELE

The aim of this study was to assess the value of ultrasonographic eval uation in predicting abnormal karyotypes in fetuses with omphalocele. Forty fetuses with antenatally diagnosed omphalocele and available kar yotype results were reviewed. Ultrasound evaluation included herniatio n contents and size, and the detection of other anomalies. Nine of 40 consecutive fetuses had abnormal karyotypes: trisomy 18 (n = 5), triso my 13 (n = 3), 47,XXX (n = 1). Only 1/25 with an extracorporeal liver versus 8/15 with an intracorporeal liver had abnormal chromosomes [P = 0.0006, RR = 0.14 (0.02<RR<0.9)]. Small defects (<3 cm) were associat ed with abnormal karyotypes [P = 0.01, RR = 4.7 (1.4<RR<15.6)]. Findin g concurrent malformations was highly associated with chromosomal anom alies [P = 0.00004, RR = 4.4 (2.3<RR<8.5)]. The presence of associated malformations, an intracorporeal liver, and a small herniation size a re highly suggestive of an associated abnormal karyotype.