基于二代测序的植入前遗传学检测在71例染色体易位家系中的应用  

Application of next generation sequencing for preimplantation genetic test of 71 couples with one partner carrying a reciprocal or Robertsonian translocation

作　　者：阳彦[1] 刘艳秋[1] 马鹏鹏[1] 陈佳[1] 丁涛[1] Yang Yan;Liu Yanqiu;Ma Pengpeng;Chen Jia;Ding Tao(Prenatal Diagnosis Center,Jiangxi Women and Children’s Health Care Hospital,Nanchang,Jiangxi 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：《中华医学遗传学杂志》2020年第5期563-566,共4页Chinese Journal of Medical Genetics

基　　金：江西省卫健委科技计划(20181119)。

摘　　要：目的探讨基于二代测序(next generation sequencing,NGS)的植入前遗传学检测(preimplantation genetic test,PGT)对于染色体易位携带者实现正常生育的意义。方法对71对染色体易位携带夫妇(60例为平衡易位,11例为罗氏易位)行PGT周期的超促排卵和卵母细胞浆内单精子注射,培养至囊胚阶段,活检囊胚滋养外胚层细胞行全基因组扩增(whole genome amplification,WGA),用NGS技术对扩增产物进行基因组序列分析,选择正常或平衡胎胚植入,并对检测结果和胚胎着床、妊娠情况进行分析。结果71对夫妇共进行92个周期,活检胚胎303枚,301枚囊胚活检成功,成功诊断胚胎287个,诊断成功率为95.3%(287/301),获得可供移植的整倍体胚胎共85个,其中18个周期无可用胚胎,周期取消率19.5%。平衡易位组获得整倍体胚胎67个,罗氏易位组获得整倍体胚胎18个,PGT后胚胎着床率分别为89.3%(42/47)和88.8%(8/9),早期流产率分别为25.5%(12/47)和22.2%(2/9),继续妊娠率+活产率分别为63.8%(30/47)和66.6%(6/9),产前诊断结果与PGT结果一致。结论基于NGS的PGT可准确的对胚胎进行染色体病诊断,避免反复流产和非意愿性终止妊娠,并获得理想的临床妊娠率。Objective To assess the value of preimplantation genetic test(PGT)based on next generation sequencing(NGS)for achieving pregnancy for 71 couples with one partner carrying a reciprocal or Robertsonian translocation.Methods Following blastocyst biopsy,whole genome of single cell was amplified,and PGT was performed by NGS.The subjects included 60 couples with one partner carrying a reciprocal translocation and 11 with one partner carrying a Robertsonian translocation.The results of PGT,implantation and prenatal diagnosis for all of the couples were analyzed.Results In total 301 embryos were obtained for the 71 couples through 92 ovulation cycles,287(95.3%)of which were successfully diagnosed by NGS.Eighty-five euploidy embryos were identified for the reciprocal translocation carrier group.In 18 cycles,no euploid embryo was obtained.Cancellation rate for the cycles was 19.5%.For reciprocal translocation carrier group and Robertsonian translocation carrier group,the rates for implantation,early abortion,and clinical pregnancy were 89.3%(42/47),25.5%(12/47),63.8%(30/47),and 88.8%(8/9),22.2%(2/9),and 66.6%(6/9),respectively.The result of prenatal diagnosis was consistent with the that of PGT.Conclusion PGT based on NGS can effectively identify euploid embryos and reduce recurrent abortions and termination of pregnancies,achieving a satisfactory rate for clinical pregnancy.

关 键 词：植入前检测 染色体易位 二代测序 妊娠率 

分 类 号：R714[医药卫生—妇产科学]