【摘要】 目的通过对高龄、复发性流产及反复种植失败患者进行胚胎植入前非整倍体遗传学检测,分析各指征下胚胎染色体情况。方法收集2018年1月至2019年12月间在柳州市妇幼保健院生殖中心行胚胎植入前遗传学筛查患者131例,胚胎培养至囊胚期进行活检。根据女方年龄将胚胎分为高龄组(≥38岁,n=69)和非高龄组(<38岁,n=62),按患者不同指征分为复发性流产组(n=86)和反复种植失败组(n=22)。通过二代测序平台分析,比较不同年龄段和不同指征下患者胚胎染色体非整倍体情况。结果女方年龄<38岁组胚胎染色体非整倍体率(63.78%)显著低于女方年龄≥38岁组(79.55%),差异具有统计学意义(χ~2=20.237,P<0.001)。在不同指征下,复发性流产和反复种植失败患者胚胎染色体非整倍体率分别为67.49%和73.55%,两组间胚胎异常率比较差异无统计学意义(χ~2=1.657,P=0.198)。胚胎的异常染色体数目(1条染色体异常、2条染色体异常和≥3条染色体异常)在复发性流产组中频率(40.85%、20.12%和39.02%)与反复种植失败组(37.08%、21.35%和41.57%)比较差异无统计学意义(χ~2=7.185,P=0.126)。将染色体异常的类型分为单体、三体、微缺失微重复和嵌合四种,反复种植失败组染色体单体比率(38.05%)显著高于复发性流产组(24.79%),差异具有统计学意义(χ~2=7.504,P=0.006)。结论高龄、复发性流产及反复种植失败的女性,胚胎染色体异常具有较高的比例,应用PGT-A可有效地避免染色体非整倍体的胚胎植入,改善临床结局。更多还原

【Abstract】 Objective To perform the preimplantation genetic testing for aneuploidy(PGT-A) in patients with advanced age,recurrent miscarriage,and repeated implantation failures,and to analyze the chromosomal status of embryos under each indication.Methods A total of 131 patients at the Reproductive Center of Liuzhou Maternal and Child Health Hospital from January 2018 to December 2019 were enrolled undergoing PGT-A.Embryos are cultured to the blastocyst stage for biopsy.According to the age of the woman,the embryos were divided into advanced age group(≥38 years old,n=69) and non-advanced age group(<38 years old,n=62).According to the different indications of patients,they were divided into recurrent miscarriage group(n=89) and repeated implantation failure group(n=22).The chromosomal aneuploidy of the embryos of patients under different age groups and different indications was compared with the analysis of the next-generation sequencing(NGS) platform.Results The chromosomal aneuploidy rate(63.78%) of the female’s age <38 years old was significantly lower than that of the female’s age ≥38 years old(79.55%),and the difference was statistically significant(χ~2=20.237,P<0.001).Under different indications,the chromosomal aneuploidy rates of embryos in patients with recurrent miscarriage and repeated implantation failure were 67.49% and 73.55%,respectively.There was no significant difference in embryo abnormality rates between the two groups(χ~2=1.657,P=0.198).There was no significant the difference(χ~2=7.185,P=0.126) of the number of abnormal chromosomes(1 chromosome abnormality,2 chromosome abnormality and ≥3 chromosome abnormality) between the recurrent miscarriage group(40.85%,20.12% and39.02%) and the repeated implantation failure group(37.08%,21.35% and 41.57%).The ratio of chromosome monomers in the group with repeated implantation failure(38.05%)was significantly higher than that in the group with recurrent abortion(24.79%),and the difference was statistically significant(χ~2=7.504,P=0.006).Conclusion Women with advanced maternal age,recurrent miscarriage and repeat implantation failures have a high proportion of embryo chromosomal abnormalities.The application of PGT-A can effectively avoid embryo implantation of chromosomal aneuploidy.更多还原