平衡易位携带者61个胚胎植入前遗传学检测周期的结局分析  

Outcome Analysis of 61 Preimplantation Genetic Testing Cycles in Balanced Translocation Carriers

作　　者：袁振亚 袁牧 黄晓洁[1] 严为巧[1] 宋雪梅[1] YUAN Zhenya;YUAN Mu;HUANG Xiaojie;YAN Weiqiao;SONG Xuemei(Center for Reproductive Medicine,Xuzhou Maternity and Child Health Care Hospital,Xuzhou Jiangsu 221009,China)

机构地区：[1]徐州市妇幼保健院生殖医学中心,江苏徐州221009

出　　处：《中国卫生标准管理》2022年第21期40-45,共6页China Health Standard Management

基　　金：江苏省妇幼健康科研项目(F202162)。

摘　　要：目的探究罗氏易位和平衡易位携带者子代胚胎的遗传学特征,评估胚胎植入前遗传学检测(pre-implantation genetic testing,PGT)技术在罗氏易位和平衡易位携带者体外受精-胚胎移植(in vitro fertilization-embryo transfer,IVF-ET)周期中的应用价值,为此类患者个体化诊疗策略及遗传咨询提供依据。方法选取2019年1月—2021年12月在徐州市妇幼保健院接受治疗的50对平衡易位/罗氏易位携带者夫妇的61个PGT周期进行深入的统计和分析。结果罗氏易位组子代胚胎整倍体率显著高于平衡易位组,非整倍体率显著低于平衡易位组,差异有统计学意义(P<0.05);罗氏易位组和平衡易位组临床妊娠率分别达到了86.67%和83.33%,活产率分别达到了73.33%和72.22%,所有周期产前诊断结果均与PGT结果一致。结论PGT技术是阻断染色疾病遗传的有效方法,可降低罗氏易位和平衡易位携带者的生育风险,降低流产率,提高临床妊娠率和活产率。Objective In order to provide theoretical basis for personalized treatment strategies and genetic counseling in clinical,we were aimed to explore the genetic features of the embryos and to assess the application value of pre-implantation genetic testing(PGT)on the in vitro fertilization embryo transfer(IVF-ET)treatments in Robertsonian translocation and balanced translocation carriers.Methods A total of 61 PGT cycles of 50 couples with balanced translocation/Robertsonian translocation who were treated in Xuzhou Maternal and Child Health Care Hospital from January 2019 to December 2021 were selected for in-depth statistics and analysis.Results The rate of euploidy in robertsonian translocation group was significantly higher than that in balanced translocation group,and the rate of aneuploidy was significantly lower than that in balanced translocation group,and the difference was statistically significant(P<0.05).The clinical pregnancy rates were 86.67%and 83.33%in the Roche translocation group and the balance translocation group,and the live birth rates were 73.33%and 72.22%,respectively.The prenatal diagnosis results of all cycles were consistent with the PGT results.Conclusion PGT techniques is effective methods to block the inheritance of chromosomal diseases,reduce the fertility risk and the rate of abortion,and improve the clinical pregnancy rate and live birth rate of Robertsonian translocation and balance translocation carriers.

关 键 词：罗氏易位 平衡易位 体外受精-胚胎移植 胚胎植入前遗传学检测 临床妊娠率 活产率 个体化诊疗策略 

分 类 号：R714[医药卫生—妇产科学]