超声诊断胎儿Dandy-Walker畸形及其合并畸形

Ultrasound in diagnosis of fetal Dandy-Walker malformation and associated abnormalities

目的探讨超声对Dandy-Walker畸形(DWM)及合并其他异常的诊断价值。方法回顾性分析我院诊断为DWM的64胎胎儿的超声资料。结果 64胎中典型DWM 5胎,其中3胎合并其他部位畸形;变异型DWM 59胎,其中44胎合并其他部位畸形。5胎典型DWM中,4胎引产,1胎宫内死亡;变异型DWM中,47胎引产,6胎宫内死亡,2胎出生,4胎失访。变异型DWM常见合并畸形包括心脏畸形(13/59,22.03%)、消化系统畸形(10/59,16.95%)、颜面部畸形(9/59,15.25%)、肾脏畸形(8/59,13.56%)、脑积水(6/59,10.17%)、骨骼系统畸形(6/59,10.17%)。结论 DWM合并其他部位的畸形发生率较高,胎儿预后较差;产前超声检查能够初步诊断胎儿DWM。

Objective To assess the value of ultrasound in diagnosis of fetal Dandy-Walker malformation（DWM） and associated abnormalities.Methods Ultrasonic data of 64 fetuses with DWM were retrospectively analyzed.Results Sixty-four fetuses were diagnosed as DWM,including 5 typical DWM and 59 variant DWM.Three of 5 typical DWM and 44 of 59 variant DWM combined with other malformations.Four pregnant women with typical DWM fetus and 47 with variant DWM underwent induction delivery.One typical DWM and 6 variant DWM fetuses dead in uterus.Two fetuses with variant DWM were born,while 4 were loss during follow-up.The associated abnormalities of variant DWM included heart malformation（13/59,22.03%）,digestive system malformation（10/59,16.95%）,facial malformation（9/59,15.25%）,renal malformation（8/59,13.56%）,hydrocephalus（6/59,10.17%） and skeletal system malformation（6/59,10.17%）.Conclusion The incidence of DWM associated with other malformations is high,and the prognosis is poor.Prenatal ultrasound examination can make preliminary diagnosis for DWM.