【摘要】 目的 探讨染色体核型分析联合染色体微阵列分析（chromosomal microarray analysis,CMA）序贯全外显子组测序（whole exome sequencing,WES）策略在胎儿先天性心脏病（congenital heart disease,CHD）产前遗传学诊断中的应用。方法 纳入阜阳市人民医院2019年1月1日至2022年12月31日经产前超声诊断胎儿CHD的患儿64例，分为单一心脏结构畸形组（Ⅰ组）7例；复杂先心组（Ⅱ组）41例；心内合并心外畸形组（Ⅲ组）16例。所有病例均送检染色体核型分析和CMA，当检测结果不能提供有诊断意义的临床信息时，序贯行WES。回顾性分析3组病例的超声表现、产前诊断结果和妊娠结局。结果 64例胎儿CHD中，遗传学异常的总检出率为25.0%(16/64)。单一心脏结构畸形组、复杂先心组和心内合并心外畸形组的检出率分别为57.1%(4/7)、12.2%(5/41)和43.8%(7/16)。染色体核型分析、CMA和WES的检出率分别为12.5%(8/64)、7.8%(5/64)和4.7%(3/64)。结论 产前超声发现的胎儿CHD，均应进行染色体核型联合CMA的标准产前遗传学诊断，对于结果为阴性的患儿，序贯行WES检测，以全面评估CHD的遗传学病因。更多还原

【Abstract】 Objective To explore the application of chromosome karyotype combined with chromosome microarray analysis(CMA) sequential whole exome sequencing(WES) strategy in the prenatal diagnosis of congenital heart disease(CHD). Method 64 cases of fetal CHD diagnosed by prenatal ultrasound in Fuyang people’s Hospital from January 1, 2019 to December 31, 2022 were included and divided into three groups: single cardiac structural malformation group(Group Ⅰ, n=7), complex congenital heart disease group(Group Ⅱ, n=41) and intracardiac combined extracardiac malformation group(Group Ⅲ, n=16). All cases were submitted for chromosomal karyotype analysis and CMA. When the test results could not provide clear clinical significance for diagnosis, WES was performed sequentially. The ultrasound findings, prenatal diagnosis results and pregnancy outcomes of three groups were analyzed retrospectively. Result Among the 64 cases of fetal CHD, the total detection rate of genetic abnormalities was 25.0%(16/64). The detection rates of single cardiac structural malformation group, complex congenital heart disease group and intracardiac combined extracardiac malformation group were 57.1%(4/7), 12.2%(5/41) and 43.8%(7/16), respectively. The detection rates of chromosome karyotype analysis, CMA, and WES were 12.5%(8/64), 7.8%(5/64) and 4.7%(3/64), respectively. Conclusion The standard prenatal genetic diagnosis of chromosome karyotype combined with CMA should be carried out for fetal CHD detected by prenatal ultrasound. For cases with negative results, WES testing should be carried out in sequence to comprehensive evaluate the genetic etiology of CHD.更多还原