经胚胎植入前染色体结构重排基因检测治疗的罗氏易位复发性流产夫妇的临床结局分析

Analysis of clinical outcome of recurrent miscarriage couples with Robertsonian translocation treated by PGT-SR

目的分析胚胎植入前染色体结构重排基因检测(PGT-SR)对罗氏易位复发性流产夫妇的治疗结局,了解不同流产次数对妊娠结局的影响,比较罗氏易位在男性及女性携带者中的分布。方法选取2012年1月至2016年12月北京大学第三医院生殖医学中心收治的32对采用array-CGH技术进行PGT-SR的复发性流产(RM)夫妇作为研究对象。获取第一个刺激周期的临床资料,进行回顾性分析。统计所有患者的基线资料、刺激周期结局及解冻移植周期的结局。结果研究纳入32个刺激周期,女性罗氏易位占90.63%,男性罗氏易位占9.37%,女方携带者明显多于男方,差异具有统计学意义(P<0.001)。无胚可移植率21.88%,囊胚正常率52.10%。解冻移植周期临床妊娠率38.46%、活产率86.67%、流产率13.33%。累积活产率44.83%,累积妊娠率46.67%。女性罗氏易位55.17%发生在13、14号染色体,20.67%发生在14、21号染色体,罗氏易位的易位位点不影响正常核型囊胚率,携带不同罗氏易位类型的女性携带者临床结局无统计学差异(P>0.05)。结论基于array-CGH技术的PGT-SR可以很好地改善罗氏易位携带者的妊娠结局;罗氏易位的易位位点不影响囊胚染色体正常率及临床结局。男性罗氏易位患者较少表现为复发性流产。

Objective To analyze the effects of preimplantation genetic testing for chromosomal structural rearrangements(PGT-SR) on recurrent miscarriage couples with Robertsonian translocation, and understand the influence of different number of spontaneous miscarriages on pregnancy outcomes, and compare the distribution of Robertsonian translocations among male and female carriers. Methods Thirty-two couples with recurrent miscarriage(RM) undergoing PGT-SR through array-CGH technique in Reproduction Medicine Center of Peking University Third Hospital from January 2012 to December 2016 were selected as the research subjects. Clinical data of the first stimulation cycle were collected and analyzed retrospectively. The general condition, outcome of stimulation cycle and thawing transplantation cycle of all patients were analyzed. Results Thirty-two stimulation cycles were included in the study, and female Robertsonian translocation accounted for 90.63%, male for 9.37%, and the number of female carriers was significantly higher than that of male carriers(P<0.001). The rate of no embryo transfer was 21.88%. The normal rate of blastocysts was 52.10%. The clinical pregnancy rate of frozen-thawed transfer cycle was 38.46%, the live birth rate was 86.67%, and the abortion rate was 13.33%. The cumulative live birth rate was 44.83% and the cumulative pregnancy rate was 46.67%. In female, 55.17% of Robertsonian translocation occurred on chromosomes 13 and 14, and 20.67% occurred on chromosomes 14 and 21. The translocation sites of Robertsonian translocation did not affect the normal karyotype rate of blastocysts, and there was no statistical difference in the clinical outcomes of female carriers with different Robertsonian translocation types(P>0.05). Conclusions PGT-SR based on array-CGH technology can improve the pregnancy outcome of Robertsonian translocation carriers. The translocation site of Robertsonian translocation does not affect the normal karyotype rate of blastocysts and the clinical outcomes. Male Robertsonian translocation carrier rarely present with recurrent miscarriage.