不同性别的染色体易位携带者种植前遗传学诊断助孕结局的分析  

Analysis of reproductive outcomes with preimplantation genetic diagnosis in chromosomal translocation carriers of different gender

作　　者：李欣媛 郝燕 陈大蔚 章志国 纪冬梅 魏兆莲 周平 曹云霞 Li Xinyuan;Hao Yan;Chen Dawei;Zhang Zhiguo;Ji Dongmei;Wei Zhaolian;Zhou Ping;Cao Yunxia(Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Anhui Province Key Laboratory of Reproductive Health and Genetics, Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei 230088, China)

机构地区：[1]安徽医科大学第一附属医院妇产科生殖医学中心,安徽医科大学生殖健康与遗传安徽省重点实验室,安徽省生命资源保存与人工器官工程技术研究中心,合肥230088

出　　处：《中华生殖与避孕杂志》2019年第8期622-627,共6页Chinese Journal of Reproduction and Contraception

基　　金：中央引导地方专项基金(2018080802D0081).

摘　　要：目的分析比较不同性别染色体罗氏易位、相互易位携带者行胚胎种植前遗传学诊断(PGD)后对胚胎发育及助孕结局的影响。方法回顾性分析行PGD助孕的122个染色体易位周期(共105对夫妻),按染色体易位类型和性别分为罗氏易位组和相互易位组,每个组又分为男性携带者亚组和女性携带者亚组。分别分析比较各组的一般情况、胚胎发育情况及解冻移植后的妊娠结局。结果罗氏易位中女性携带者亚组活检结果正常率(22.8%)较男性携带者亚组(35.3%)低(P=0.048),相互易位中女性携带者亚组受精率(78.8%)较男性携带者亚组(83.8%)低(P=0.038)而每移植周期临床妊娠率(69.0%)较男性携带者亚组(41.9%)高(P=0.035)。MII卵率罗氏易位组(88.4%)比相互易位组(83.9%)高(P=0.008),尤其在男性中,罗氏易位组的MII卵率(90.3%)、活检正常率(35.3%)和每取卵周期临床妊娠率(64.7%)均显著高于相互易位组(85.0%,P=0.036;21.9%,P=0.018;31.7%,P=0.02)。结论不同性别对染色体易位携带者的胚胎发育情况及助孕结局无明显影响;在男性中,罗氏易位携带者较相互易位携带者可获得更好的妊娠结局。Objective To analyze and compare the effects of preimplantation genetic diagnosis (PGD) on embryonic development and reproductive outcomes in robertsonian and reciprocal translocation carriers of different gender respectively. Methods One hundred and twenty-two chromosomal translocation cycles (a total of 105 couples) assisted by PGD were retrospectively analyzed. They were divided into robertsonian translocation group and reciprocal translocation group, and each group was divided into male and female subgroups according to the chromosome type and carrier’s gender. The clinical characteristics, embryo development and reproductive outcomes after thawing and transfer were then analyzed and compared. Results The normal rate of biopsy results in female subgroup (22.8%) in robertsonian translocation carriers was lower than that in male subgroup (35.3%)(P=0.048), the fertilization rate in female subgroup (78.8%) in reciprocal translocation carriers was lower than that in male subgroup (83.8%, P=0.038), while the clinical pregnancy rate per embryo transfer (ET)(69.0%) was higher than that in male subgroup (41.9%, P=0.035). The MII oocyte rate in robertsonian translocation group (88.4%) was higher than that in reciprocal translocation group (83.9%, P=0.008). Especially in male translocation carriers, the frequencies of MII oocyte (90.3%), normal embryos (35.3%) and the clinical pregnancy rate per oocytes pick-up (OPU)(64.7%) in robertsonian translocation group were significantly higher than those in reciprocal translocation group (85.0%, P=0.036;21.9%, P=0.018;31.7%, P=0.02, respectively). Conclusion There is no significant effect of different gender on embryo development and pregnancy outcome of chromosomal translocation carriers. In male carriers, robertsonian translocation carriers have better pregnancy outcomes compared with reciprocal translocation carriers.

关 键 词：胚胎种植前遗传学诊断 罗氏易位 相互易位 携带者性别 妊娠结局 

分 类 号：R714.8[医药卫生—妇产科学]