下一代测序技术在高龄女性的胚胎植入前非整倍体遗传学检测中的应用  

Application of preimplantation genetic testing for aneuploidies with next-generation sequencing in women with advanced maternal age

作　　者：刘雪丽 陈松长 黄荷凤[1,2] 徐晨明 LIU XueLi;CHEN SongChang;HUANG HeFeng;XU ChenMing(International Peace Maternity and Child Health Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200030,China;Shanghai Key Laboratory of Embryo Original Diseases,Shanghai 200030,China)

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院生殖遗传科,上海200030 [2]上海市胚胎源性疾病重点实验室,上海200030

出　　处：《中国科学：生命科学》2020年第8期866-873,共8页Scientia Sinica(Vitae)

摘　　要：本研究以微阵列比较基因组杂交(array comparative genomic hybridization, aCGH)平台为参照,旨在探究基于下一代测序(next-generation sequencing, NGS)的胚胎植入前遗传学非整倍体检测(preimplantation genetic testing for aneuploidies, PGT-A)对高龄不育患者辅助生殖临床结局的影响.本文回顾性分析了上海交通大学医学院附属国际和平妇幼保健院2016年6月至2019年3月行PGT-A的104对夫妇的临床资料,共纳入125个移植周期,其中正常胚胎移植周期为107个,嵌合体胚胎移植周期为18个.主要结果指标包括正常囊胚检出率和嵌合体囊胚检出率,以及临床妊娠率、流产率和活产率.研究结果表明,与a CGH平台相比, NGS的嵌合胚胎的检出率显著提高,且部分嵌合体胚胎移植获得了健康胎儿.对于移植检测结果为正常的胚胎,基于NGS的PGT-A和基于aCGH的PGT-A对高龄女性辅助生殖的临床妊娠率、流产率和活产率的影响无显著差异.This study aimed to explore the effects of next-generation sequencing(NGS) based preimplantation genetic testing for aneuploidies(PGT-A) on women with advanced maternal age compared with array comparative genomic hybridization(aCGH) based PGT-A. We retrospectively analyzed 125 frozen-thawed embryo transfers(FET) cycles from 104 couples, including 107 FET cycles with normal embryos and 18 FET cycles with mosaic embryos. The main outcomes included the detection rate of normal embryos, the detection rate of mosaic embryos, the clinical pregnancy rate, the miscarriage rate and live birth rate. The detection rate of mosaic embryos was significantly higher in NGS group compared with a CGH group. The transfer of a portion of mosaic embryos led to healthy births. For embryos with normal results, the clinical pregnancy rate, the miscarriage rate and live birth rate of NGS based PGT-A and aCGH based PGT-A were of no significant differences.

关 键 词：高龄 胚胎植入前遗传学非整倍体检测 下一代测序 微阵列比较基因组杂交 

分 类 号：R714.8[医药卫生—妇产科学]