体外受精中嵌合体胚胎发生率的相关因素分析  

Analysis of possible factors influencing mosaicism in in vitro fertilization

作　　者：刘景[1] 周梦鸽 管一春[1] 李真[1] 王兴玲[1] 张亚新 袁二凤 张琳琳[2] 杨如镜[1] Liu Jing;Zhou Mengge;Guan Yichun;Li Zhen;Wang Xingling;Zhang Yaxin;Yuan Erfeng;Zhang Linlin;Yang Rujing(Reproductive Medicine Center,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Research Center,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第三附属医院生殖医学中心,郑州450052 [2]郑州大学第三附属医院科研中心,郑州450052

出　　处：《中华生殖与避孕杂志》2022年第9期902-908,共7页Chinese Journal of Reproduction and Contraception

摘　　要：目的初步探讨体外受精(in vitro fertilization,IVF)治疗中影响嵌合体胚胎发生的相关因素。方法采用病例对照研究回顾性分析了郑州大学第三附属医院生殖医学中心2017年1月至2020年12月期间的579个胚胎植入前遗传学检测(preimplantation genetic testing,PGT)周期的2252个囊胚移植患者的临床资料。使用二代测序(next generation sequencing,NGS)技术进行活检细胞的分析,根据分析结果将所有的胚胎分为嵌合体组及非嵌合体组。嵌合类型包括整倍体-非整倍体嵌合,非整倍体-非整倍体嵌合和复杂嵌合。比较两组胚胎来源的人群特征及实验室相关参数,对嵌合体发生率做单因素及多因素分析以评价影响嵌合体胚胎发生的相关因素。结果905个胚胎为整倍体(40.2%),923个为非整倍体(41.0%),424个为嵌合体(18.8%)。共有228个胚胎为整倍体-非整倍体嵌合(10.1%),59个(2.6%)为非整倍体-非整倍体嵌合,137个(6.1%)为复杂嵌合。共有4个遗传检测机构进行NGS技术的测序,嵌合体率波动在7.6%~26.2%。调整男女方年龄、男方精子质量、促排卵方案、试剂类型、PGT的适应证、不同的活检操作者及囊胚发育时期后显示,囊胚滋养外胚层细胞评分(C级比A级,P=0.014)及遗传检测机构(机构2比机构1前期,P<0.001;机构1后期比机构1前期,P<0.001)对嵌合体的发生有显著影响。与滋养层细胞(trophectoderm,TE)评分为A级相比,C级发生嵌合体的概率升高66%(aOR=1.66,95%CI=1.11~2.50,P=0.014),与机构1前期相比,机构2的嵌合体发生率是前者的2.28倍(aOR=2.28,95%CI=1.71~3.04,P<0.001),机构1后期是机构1前期的2.17倍(aOR=2.17,95%CI=1.41~3.34,P<0.001)。结论IVF技术中的嵌合体胚胎的发生率与NGS检测机构及滋养外胚层细胞质量相关。Objective To preliminarily explore the related factors that affect chimera mosaicism in in vitro fertilization(IVF)treatment.Methods A case-control study was conducted to retrospectively analyze the clinical data of 2252 blastocysts in 579 preimplantation genetic testing(PGT)cycles in the Reproductive Medicine Center of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2020.Biopsy cells were analyzed by next generation sequencing(NGS).According to the analysis results,all embryos were divided into mosaicism group and non-mosaicism group.Mosaicism types included euploid-aneuploid mosaicism,aneuploid-aneuploid mosaicism and complex mosaicism.The population characteristics and laboratory-related parameters of the two groups of embryos were compared,and single-factor and multi-factor analysis of the incidence of mosaicism were performed to evaluate the related factors that affect the development of mosaic embryos.Results A total of 2252 blastocysts in 579 cycles were included in this study,905 embryos(40.2%)were euploid,923(41.0%)were aneuploid,and 424(18.8%)were mosaicism.Among them,228(10.1%)were euploid-aneuploidy mosaicism,59(2.6%)were aneuploidy-aneuploidy mosaicism,and 137(6.1%)were complex mosaicism.NGS technology was performed in 4 institutions,and the mosaicism rate fluctuated between 7.6%and 26.2%.After adjusting the confounding factors(the age of the male and female partners,the quality of the male partner's sperm,the ovarian stimulation protocols,the type of culture medium,the indications of PGT,the different biopsy operators and the developmental stage of the blastocyst),it was found that the blastocyst trophectoderm cell(TE)score(grade C vs.grade A,P=0.014)and the genetic testing institutions(institution 2 vs.early stage of institution 1,P<0.001;late stage of institution 1 vs.early stage of institution 1,P<0.001)had a significant effect on the occurrence of mosaicism.Compared with the TE score of grade A,the chance of mosaicism in grade C increased by 66%(aOR=1.66,95%CI

关 键 词：嵌合 二代测序 胚胎植入前遗传学检测 

分 类 号：R714.8[医药卫生—妇产科学]