目的 探讨全基因组高分辨率染色体微阵列分析(CMA)技术对超声心动图检查提示为先天性心脏病(CHD)的胎儿进行遗传病因学诊断的临床价值.方法 收集2012年1月至2014年1月在广州医科大学附属广州市妇女儿童医疗中心就诊并接受侵入性产前诊断的176例超声心动图检查提示为CHD胎儿的临床资料,在其中158例染色体核型分析结果正常的CHD胎儿中,有88例(50.0%,88/176)胎儿进行了CMA检测.同时收集所有CHD胎儿的父母外周血标本,用于不明确临床意义的拷贝数变异(vOUS)的协助诊断.88例行CMA检测胎儿分为两组,68例单纯心脏结构异常的CHD胎儿为单纯心脏结构异常组;20例合并心外结构异常的CHD胎儿为合并心外结构异常组,对两组胎儿的CHD表型进行分类,对检出的染色体拷贝数变异(CNV)性质按致病性CNV、VOUS及良性CNV进行分类.结果 (1)88例行CMA检测的胎儿中,单一类型CHD胎儿共58例(66%,58/88),复合类型CHD胎儿共30例(34%,30/88).其中,单纯心脏结构异常组单一类型CHD胎儿45例,其致病性CNV检出率为11%(5/45);复合类型CHD胎儿23例,其致病性CNV检出率为17% (4/23).合并心外结构异常组单一类型CHD胎儿13例,其致病性CNV检出率为5/13;复合类型CHD胎儿7例,其致病性CNV检出率为0.(2)88例行CMA检
Objective To explore the clinical value of genome-wide high resolution chromosomal microarray analysis (CMA) in etiological study of fetuses with congenital heart disease (CHD) diagnosed by fetal echocardiography.Methods A total of 176 fetuses diagnosed CHD by fetal echocardiography were analyzed,and invasive prenatal diagnosis was performed at Guangzhou Women and Children''s Medical Center from January 2012 to January 2014.Among them,158 fetuses were proved to have normal karyotype,and 88 fetuses (50.0%,88/176) underwent CMA testing.The parental blood specimens were also collected for assisting the diagnosis of variants of uncertain clinical significance (VOUS).The 88 fetuses were divided into two groups:isolated CHD (n=68) and CHD with extra-cardiac structural abnormalities (n=20).The phenotypes of the two groups were subclassified.Copy number variations (CNV) were classified as benign CNV,pathogenic CNV (pCNV) or VOUS.Results (1) 58 fetuses (66%,58/88) were with simple C