PRENATAL-DIAGNOSIS OF GENETIC SYNDROMES MAY BE FACILITATED BY SERENDIPITOUS FINDINGS AT FETAL BLOOD-SAMPLING

Two women without a specific risk had fetuses with multiple malformati ons diagnosed by ultrasound; extensive biochemical investigations on f etal blood revealed clues which would have allowed the correct diagnos is of a genetic condition: Pallister-Killian syndrome in one with incr eased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other w ith low fetal cholesterolaemia. When compared with chorionic villus sa mpling and amniocentesis, rapid karyotyping in women with multiple fet al malformations by fetal blood sampling allows the collection of addi tional data which may lead to the diagnosis of specific genetic syndro mes. (C) 1998 John Wiley & Sons, Ltd.