9号染色体倒位携带对于胚胎染色体及妊娠结局的影响  

Influence of chromosome 9 inversion on embryo chromosome and pregnancy outcome

作　　者：陈欢[1] 沈鉴东[1] 谢佳孜[1] 孙雪萍[1] 崔毓桂[1] 刘嘉茵[1] 吴畏[1] CHEN Huan;SHEN Jian-dong;XIE Jia-zi;SUN Xue-ping;CUI Yu-gui;LIU Jia-yin;WU Wei(Clinical Center of Reproductive Medicine y First Affiliated Hospital,Nanjing Medical University, Nanjing 7210029)

机构地区：[1]南京医科大学第一附属医院生殖医学科,南京210029

出　　处：《生殖医学杂志》2019年第5期509-514,共6页Journal of Reproductive Medicine

基　　金：国家重点研发计划(2017YFC1001301-2)

摘　　要：目的分析因复发性流产(RSA)行胚胎植入前筛查(Preimplantation genetic test for aneuploidies,PGT-A)包括9号染色体倒位[inv(9)]携带者及非inv(9)携带者胚胎检测结果及妊娠结局,探讨inv(9)携带对于胚胎染色体及妊娠的影响。方法回顾性分析2007年9月至2018年6月我中心就诊的因RSA行PGT-A的165对夫妇。夫妇双方至少有一位染色体核型为inv(9)的30对夫妇作为A组,染色体核型正常的135对夫妇作为B组;比较A组、B组胚胎检测结果以及妊娠结局。结果一次取卵周期中,A组总移植周期为34周期,每取卵周期累积妊娠率为76.9%,流产率为25.0%;B组总移植周期为125周期,每取卵累积妊娠率为74.0%,流产率为16.9%;两组间妊娠率及流产率均无统计学差异(P>0.05),但A组胚胎种植率显著低于B组(41.7%vs.61.4%)(P<0.05)。A组检测胚胎数209枚,胚胎染色体异常率为62.2%,但异常染色体均非9号染色体;B组活检胚胎数532枚,胚胎染色体异常率51.5%,显著低于A组(P<0.05)。结论 inv(9)有增加其它染色体异常的趋势且可能影响胚胎种植,导致RSA风险增加。Objective:To compare the pregnancy outcome of patients with recurrent spontaneous abortion(RSA)underwent preimplantation genetic test for aneuploidies(PGT-A)with or without chromosome 9 inversion,and explore the influence of chromosome 9 inversion on embryo chromosome and pregnancy.Methods:The data of 165 couples who underwent PGT-A due to RSA in our hospital from September2007 to June 2018 were retrospectively analyzed.The couples who had at least one spouse with a karyotype of inv(9)were selected as group A(n=30)and the couples with normal karyotype as group B(n=135).The pregnancy outcome and the embryos test results were compared between group A and B.Results:In group A,the total number of transplantation cycles in once oocyte retrieval was 34,the cumulative clinical pregnancy rate was 76.9% and the abortion rate was 25.0%.In group B,the total number of transplantation cycles in once oocyte retrieval was 125,the cumulative clinical pregnancy rate was 74.0%and the abortion rate was 16.9%.There was no significant difference in the pregnancy rate and abortion rate between group A and B(P >0.05).The embryo implantation rate of group A was significantly lower than that of group B(41.7% vs.61.4%,P<0.05).A total of 209 embryos were tested in group A,and the probability of chromosomally abnormal embryos was 62.2%,and they were not associated with chromosome 9.In group B,532 embryos were tested,and the probability of chromosomally abnormal embryos was 51.5%,which was significantly lower than that of group A(P<0.05).Conclusions:Chromosome 9 inversion has a tendency to increase the probability of other chromosomal abnormality and affects the embryo implantation,leading to an increase risk of spontaneous abortion.

关 键 词：染色体倒位 植入前遗传学筛查 复发性流产 

分 类 号：R715.5[医药卫生—妇产科学]