应用染色体微阵列分析产前诊断15q13微重复一例

Chromosome microarray analysis of 15q13 microduplication in prenatal diagnosis:a case report

目的评价染色体微阵列分析(CMA)用于常规心脏超声发现胎儿心脏发育异常产前诊断中的价值,分析染色体15q13微重复与心脏发育异常的关系。方法常规心脏超声发现胎儿心脏发育异常的孕妇采集羊水标本分别进行G带核型和CMA分析,收集引产胎儿脏标本进行病理切片检查。结果染色体核型为46,XN(正常染色体,性别未知),未见异常核型。CMA分析显示,胎儿在15号染色体15q13.2q13.3区段存在1.8 Mb片段的重复,内含TRPM1、KLF13、OTUD7A、CHRNA7等7个OMIM基因,该片段位于15q13.3区段BP4-BP5区域。胎儿心脏大体标本显示左心室内实性占位,病理检查证实为心脏横纹肌瘤。结论对于常规心脏超声发现胎儿心脏发育异常的病例,推荐采用CMA分析以早期发现胎儿可能存在的先天性遗传基因异常,从而为孕妇及家属提供产前诊断咨询。胎儿心脏横纹肌瘤形成可能与15q13微重复有关。

Objective To evaluate the value of chromosome microarray analysis(CMA) in prenatal diagnosis of fetal cardiac dysplasia by echocardiography,and to analyze the relationship between chromosome 15 q13 microduplication and cardiac dysplasia.Methods Amniotic fluid samples were collected from pregnant women with abnormal fetal heart development who were found by echocardiography,and they were detected by G-banding karyotype and CMA respectively,and pathological section examination was carried out on fetal viscera samples from induced labor.Results The karyotype was 46,XN(normal chromosome,gender unknown),no abnormal karyotype was found.CMA showed that there was 1.8 Mb repeat in 15 q13.2 q13.3 of chromosome 15,including 7 OMIM genes such as TRPM1,KLF13,OTUD7 A and CHRNA7,which were located in Bp4-Bp5 of 15 q13.3.The gross specimen of fetal heart showed solid space occupying in the left ventricle,which was confirmed as rhabdomyoma by pathological examination.Conclusion CMA is recommended to detect the fetal congenital genetic abnormalities in the early stage,so as to provide prenatal diagnosis consultation for pregnant women and their families.The formation of fetal cardiac rhabdomyoma may be related to 15 q13 microduplication.