Lalatta F, Salmona S, Fogliani R, Rizzuti T, Nicolini U
Cytogenetics Laboratory, ICP, Milano, Italy.
Prenat Diagn. 1998 Aug;18(8):834-7.
Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes.
两名无特定风险因素的女性经超声诊断胎儿存在多处畸形；对胎儿血液进行的广泛生化检查揭示了一些线索，这些线索本可对一种遗传病做出正确诊断：其中一例胎儿乳酸脱氢酶升高，诊断为帕利斯特-基利安综合征；另一例胎儿胆固醇血症偏低，诊断为Ⅱ型史密斯-勒米-奥皮茨综合征。与绒毛取样和羊膜穿刺术相比，通过采集胎儿血液对有多处胎儿畸形的女性进行快速核型分析能够收集更多数据，这可能有助于诊断特定的遗传综合征。
