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目的:探讨产前超声检查对于胎儿丹迪-沃克综合征的诊断价值。方法:回顾性总结2007年1月～2011年7月在本院行超声检查的15例胎儿丹迪-沃克综合征的超声表现,并将检出的10例病例与病理结果比较。结果:15例胎儿均可见丹迪-沃克综合征的典型超声表现,小脑蚓部全部或部分缺失、第四脑室和后颅窝池增宽。其中11例中伴有:心脏畸形5例,胼胝体缺失6例,单脐动脉4例,手、足发育异常3例,肾脏发育不全2例,脊柱形态异常2例,脐疝1例,唇腭裂2例。10例引产后进行了尸检证实,13例经MRI证实。结论:产前超声检查对早期诊断胎儿丹迪-沃克综合征有重要价值。
Objective: To investigate the diagnostic value of prenatal ultrasound for fetal Dandy Walker syndrome. Methods: The ultrasound findings of 15 cases of Fetal Dick-Walker syndrome in our hospital from January 2007 to July 2011 were retrospectively reviewed. The 10 cases were compared with the pathological findings. Results: The typical ultrasound findings of Dandy Walker syndrome were all seen in all 15 fetuses. All or part of cerebellar vermis were missing, and the size of the fourth ventricle and posterior fossa was broadened. Of the 11 cases, there were 5 cases of cardiac malformation, 6 cases of corpus callosum, 4 cases of single umbilical artery, 3 cases of hand and foot dysplasia, 2 cases of renal hypoplasia, 2 cases of abnormal spinal morphology, 1 case of umbilical hernia and cleft lip and palate 2 cases. Ten cases were confirmed by autopsy after induced labor and 13 cases were confirmed by MRI. Conclusion: Prenatal ultrasound is of great value in the early diagnosis of fetal Dandy Walker syndrome.