全基因组测序技术应用于500例高危孕妇产前诊断的结果分析  

An analysis on using whole-genome sequencing for prenatal diagnosis in 500 high-risk pregnancies

作　　者：黄宁[1] 刘艳秋[1] 丁书军[1] HUANG Ning;LIU Yanqiu;DING Shujun(Prenatal Diagnosis Center,Jiangxi Maternal and Child Health Hospi-tal,Nanchang 330006,China)

机构地区：[1]江西省妇幼保健院产前诊断中心,南昌330006

出　　处：《实用医学杂志》2018年第20期3462-3464,共3页The Journal of Practical Medicine

基　　金：江西省卫生计生委科技计划项目(编号:20161115);江西省科技计划项目(编号:20181BBG78005)

摘　　要：目的探讨全基因组测序技术在高危孕妇产前诊断中的效用,评估该技术提高产前诊断的检测能力。方法 500例高危孕妇同时进行全基因组测序分析和染色体核型分析,这些高危孕妇产前诊断适应症包括高龄、唐筛高危、无创产前检测阳性、B超检查胎儿发育异常、夫妇一方染色体异常及异常产史,分析异常染色体结果构成。结果 500例高危孕妇中,75%为B超检测胎儿发育异常和胎儿无创DNA阳性。共检出异常染色体71例,异常率14.2%。其中胎儿细胞染色体核型分析检出61例异常核型,异常率12.2%(61/500),WGS检出10例微缺失微重复病例,异常率2%。结论相对于传统染色体核型分析,全基因组测序技术对产前诊断染色体病有较大的提升,能更好地发挥降低出生缺陷的作用。Objective To explore the effect of whole-genome sequencing(WGS)in prenatal diagnosis of high-risk pregnancies and to assess the detection performance of WGS.Methods Both WGS and G-banding for conventional karyotyping were performed on 500 high-risk pregnancies.The indications for prenatal testing included advanced maternal age,abnormality of maternal serum screening test or noninvasive prenatal genetic testing(NIPT),abnormal ultrasound findings,abnormal karyotyping of parents,and family history genetic conditions.Abnormal chromosome formation was analyzed.Results Successful results were obtained from in 500/500(100%)pregnancies by WGS and karyotyping,75%of which were NIPT abnormality and abnormal ultrasound findings.14.2%(71/500)of the total pregnancies showed abnormal results,including 12.2%(61/500)was detect-ed by conventional karyotyping and 2%(10/500)was detected by WGS.Conclusion Use of WGS leads to an in-creased detection rate.WGS combined with conventional karyotyping,ultrasonic inspection and prenatal screening can play a better role in lowering birth defects.

关 键 词：全基因组测序技术 产前诊断 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]