The purpose of this study was to evaluate the effectiveness of next-generation sequencing (NGS)-based preimplantation genetic testing (PGT) for balanced translocation carriers to identify normal/balanced blastocysts and to measure pregnancy outcomes following euploid embryo transfer. We enrolled 75 couples with a balanced translocation who underwent 83 PGT cycles (58 cycles for carriers with reciprocal translocations and 25 cycles for carriers with Robertsonian translocations) and 388 blastocysts were diagnosed. Moreover, we transferred single euploid blastocysts through frozen embryo transfer and calculated the biochemical pregnancy, clinical pregnancy, miscarriage, and ongoing pregnancy rates per embryo transfer cycle. Despite a mean maternal age of 29.8 years and mean of 4.34 embryos biopsied, there was a 32.8% chance of recording no chromosomally normal/balanced embryos for reciprocal translocation carriers. The proportion of normal/balanced embryos was significantly higher (44.1 vs. 27.8%) in Robertsonian translocation carriers than in reciprocal translocation carriers. Female carriers had a significantly lower (23.3 vs. 42.4%, 34.7 vs. 54.7%, respectively) percentage of normal/balanced embryos than male carriers, regardless of the translocation. After transfering single blastocysts, we obtained a 64.4% clinical pregnancy rate per transfer, and the clinical miscarriage rate was 5.7%. Amniocentesis results showed that all karyotypes of the fetuses were consistent with PGT results. The clinical outcomes are probably not influenced by the type of translocation, maternal age, and blastocyst morphology following the transfer of euploid blastocysts. Therefore, we conclude that NGS-based PGT is an efficient method for analyzing balanced translocation carriers, and aneuploidy screening had good clinical outcomes.
Cytogenet Genome Res

中文翻译：

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基于下一代测序的平衡易位夫妇的植入前遗传测试的有效性

这项研究的目的是评估基于下一代测序（NGS）的植入前遗传测试（PGT）对于平衡易位携带者以鉴定正常/平衡胚泡并测量整倍体胚胎移植后妊娠结局的有效性。我们招募了75对具有平衡易位的夫妇，他们经历了83个PGT周期（携带易位的携带者为58个周期，罗伯逊易位的携带者为25个周期）和388个囊胚。此外，我们通过冷冻胚胎移植来移植单个整倍体胚泡，并计算每个胚胎移植周期的生化妊娠，临床妊娠，流产和持续妊娠率。尽管平均孕妇年龄为29.8岁，平均活检为4.34个胚胎，但仍有32个。有8％的机会没有为相互易位的携带者记录染色体正常/平衡的胚胎。在罗伯逊易位携带者中，正常/平衡胚胎的比例显着高于对等易位携带者（44.1对27.8％）。雌性携带者的正常/平衡胚胎的百分比明显低于雄性携带者（分别为23.3％和42.4％，34.7％和54.7％），而与易位无关。转移单个胚泡后，每次转移获得64.4％的临床妊娠率，临床流产率为5.7％。羊膜穿刺术结果表明，所有核型的胎儿均与PGT结果一致。在整倍体囊胚转移后，临床结局可能不受易位类型，产妇年龄和囊胚形态的影响。
细胞遗传基因组研究