结合产前超声诊断评价染色体微阵列分析在Dandy-Walker综合征胎儿病因解释及产前咨询中的应用价值

The value of chromosomal microarray analysis in etiological interpretation and prenatal consultation of fetal Dandy-Walker syndrome assessed by prenatal ultrasonic diagnosis

目的 结合产前超声诊断评价染色体微阵列分析（CMA）在Dandy-Walker综合征胎儿病因解释及产前咨询中的应用价值。方法 选取2011年12月至2015年12月在首都医科大学附属北京妇产医院超声科行超声检查提示为典型或变异型Dandy-Walker综合征的胎儿12例行CMA检测，终止妊娠者行胎儿病理检查。结果 超声检查提示并经病理尸检证实为Dandy-Walker综合征胎儿12例，单发2例，合并其他畸形10例，其中合并其他中枢神经系统畸形7例，合并唇腭裂畸形4例。超声检查提示典型Dandy-Walker综合征4例、变异型8例。CMA检测结果显示6例（包括典型2例和变异型4例）存在与临床表型相关的可能致病性拷贝数变异，1例存在不明确临床意义的拷贝数变异，1例Y染色体异常，4例未发现异常。结论 Dandy-Walker综合征容易合并神经系统畸形及唇腭裂畸形，产前CMA对典型及变异型Dandy-Walker综合征的病因解释及产前咨询均具有一定价值。

Objective To evaluate the application value of chromosomal microarray analysis（CMA） in etiological interpretation and prenatal consultation of fetal Dandy-Walker syndrome（DWS） assessed by prenatal ultrasonic diagnosis. Methods Twelve cases of fetal typical DWS or Dandy-Walker variant（DWV） diagnosed by ultrasonic examination from December 2011 to December 2015 in Beijing Obstetrics and Gynecology Hospital, Capital Medical University were enrolled to have CMA test; aborted fetuses had pathological autopsy. Results All the 12 cases of DWS were confirmed by ultrasonic and pathological diagnosis; 10 cases were complicated with other malformations; 7 cases had central nervous system abnormalities; 4 cases had cleft lip and palate. Prenatal ultrasound examination showed 4 cases of typical DWS and 8 cases of DWV. Results of CMA demonstrated that likely-pathogenic copy number variations（CNV） related to clinical phenotypes were detected in 6 fetuses（2 typical DWS and 4 DWV）; 1 case had CNV with undetermined clinical significance; 1 case had Y-chromosomal abnormality. Conclusions Fetal DWS is easy to be complicated with central nervous system anomalies and cleft lip and palate. CMA is valuable in etiological explanation and prenatal consultation of typical DWS and DWV.