41例染色体平衡易位携带者行体外受精/胞浆内单精子注射-胚胎移植后临床妊娠结局的研究

Clinical Outcomes of 41 Balanced Reciprocal Translocation Carriers Undergoing Conventional IVF/ICSI-ET

目的:探讨染色体平衡易位携带者行体外受精/胞浆内单精子注射-胚胎移植(IVF/ICSI-ET)治疗后的临床妊娠结局,为此类不孕症患者的辅助生殖治疗及遗传咨询提供指导。方法:回顾性研究41例携带染色体平衡易位的不孕症患者(观察组)及751例染色体正常不孕症患者(对照组)在行常规IVF/ICSI-ET治疗后的临床妊娠结局。结果:41例观察组患者中24例为常规IVF治疗周期,17例为ICSI治疗周期。41对不孕夫妇中28例为原发性不孕,11例有不良妊娠、生育史。2组患者女方年龄、获卵数、MⅡ卵数、移植胚胎数、临床妊娠率、晚期流产率、异位妊娠率、畸形胎儿率、死胎分娩率、活胎分娩率、每取卵周期活胎分娩率差异无统计学意义(均P>0.05);胚胎种植率对照组高于观察组、早期流产率观察组高于对照组,差异均有统计学意义(均P<0.05)。41例观察组中有19对夫妇先后在27个移植周期中获得妊娠,并最终成功分娩了22个婴儿。结论:通过常规IVF/ICSI-ET治疗结合产前诊断技术,携带染色体平衡易位的不孕症患者可获得理想的临床妊娠结局,是一种相对有效、经济的治疗方法。

Objective： To evaluate the pregnancy outcomes of those patients with balanced reciprocal translocations after conventional in vitro fertilization （IVF） or intraeytoplasmic sperm injection （ICSI）, and to provide valuable reference for genetic counseling and assisted reproductive technology （ART） treatment. Methods：Fortyone patients with balanced reciprocal translocation （the study group） and 751 couples with normal karyotypes （the control group） were included. Clinical pregnancy outcomes were compared between the two groups. Results ：In the study group, 24 patients were treated with IVF, while other patients treated with ICSI. Additionally, 28 patients were diagnosed as primary infertility, and 11 patients had a history of adverse pregnancy or childbearing. There were not significant differences in the maternal age, number of retrieved oocytes, number of M Ⅱ oocytes, number of transferred embryo, clinical pregnancy rate, late abortion rate, ectopic pregnancy rate, fetal malformation rate, stillbirth rate, live birth rate, live birth rate per ovum pick-up （OPU） cycle between the two groups （P〉0.05）. However, there was significant differences in the embryo implantation rate and early miscarriage rate （P〈0.05）. Nineteen patients in the study group delivered a total of 22 babies in 27 pregnancy cycles. Conclusions：Those balanced reciprocal translocation carrier could achieve an ideal pregnancy outcome when treated with conventional IVF/ICSI and prenatal diagnosis which is an economical and effective treatment for those patients.