高通量测序胚胎植入前遗传学筛查在复发性流产患者中的应用

Application of next-generation genome sequencing preimplantation genetic screening in recurrent miscarriage

目的探讨高能量测序胚胎植入前遗传学筛查技术对复发性流产患者辅助生殖临床结局的影响。方法 32例复发性流产患者分为NGS-PGS组(n=15)与非PGS组(n=17)。NGS-PGS组胚胎行NGS筛查,选择染色体正常胚胎植入,进而对两组临床结局进行比较。结果 NGS-PGS组中平均每个周期活检囊胚2.8±2.04个,染色体整倍囊胚20枚,占47.62%,非整倍体囊胚22枚,占52.38%,胎着床率(61.54%)高于非PGS组(45.24%),但差异无统计学意义(P>0.05),NGS-PGS组早期流产率(9.09%)显著低于非PGS组(29.41%)(P<0.05)。结论经NGS-PGS,植入染色体整倍性胚胎,可使复发性流产患者获得更高的胚胎着床率及较低的早期流产率,是复发性流产患者临床治疗的有效途径。

Objective：To investigate the effects of next-generation genome sequencing-preimplantation genetic screening（NGS-PGS） on the clinical outcome of assisted reproduction for recurrent miscarriage（RM） patients. Methods：The RM patients were divided into NGS-PGS group（n=15） and non-PGS group（n=17）. In NGS-PGS group,the euploid embryos identified by NGS technology were transferred. The clinical outcomes in two groups were compared. Results：In NGS-PGS group,the euploid embryos accounted for 47.62%（20/42）. The embryo implantation rate（61.54%） in NGS-PGS group was higher than those in non-PGS group（45.24%,P0.05）. The early pregnancy loss rate was 9.09% in the former,lower than that in the latter（29.41%,P0.05）. Conclusion：Identification of the euploid embryos by NGS-PGS then transferred such embryos,can reduce the number of embryos transferred（ET）,and decrease the risks of multiple pregnancy. Furthermore,it can result in the higher embryo implantation rate and the lower early pregnancy loss rate. Application of NGS-PGS is a valid clinical approach to treatment in assisted reproduction for RM patients.