Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China.
Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
J Assist Reprod Genet. 2023 Aug;40(8):1995-2002. doi: 10.1007/s10815-023-02853-5. Epub 2023 Jun 20.
To analyze factors affecting segregation and ploidy results from Robertsonian carriers, and determine chromosomes involved impact chromosome stability during meiosis and mitosis.
This retrospective study include 928 oocyte retrieval cycles from 763 couples with Robertsonian translocations undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) using next-generation sequencing (NGS) between December 2012 and June 2020.The segregation patterns of the trivalent of 3423 blastocysts were analyzed according to the carrier's sex and age. A total of 1492 couples who received preimplantation genetic testing for aneuploidy (PGT-A) were included as the control group and matched according to maternal age and testing time stage.
A total of 1728 (50.5%) normal/balanced embryos were identified from 3423 embryos diagnosed. The rate of alternate segregation in male Robertsonian translocation carriers was significantly higher than that in female carriers (82.3% vs. 60.0%, P < 0.001). However, the segregation ratio exhibited no difference between young and older carriers. Further, increasing maternal age decreased the proportion of transferable embryo cycle in both female and male carriers. And the ratio of chromosome mosaic from the Robertsonian translocation carrier group was significantly higher than that in the PGT-A control group (1.2% vs. 0.5%, P < 0.01).
The meiotic segregation modes were affected by the carrier sex and were independent of the carrier's age. Advanced maternal age decreased the probability of obtaining a normal/balanced embryo. In additional, the Robertsonian translocation chromosome could increase the possibility of chromosome mosaicism during mitosis in blastocysts.
分析影响罗伯逊易位携带者分离和倍性结果的因素，并确定涉及的染色体在减数分裂和有丝分裂过程中对染色体稳定性的影响。
本回顾性研究纳入了 2012 年 12 月至 2020 年 6 月期间，763 对罗伯逊易位携带者接受了用于结构重排的植入前遗传学检测（PGT-SR）的 928 个卵母细胞采集周期，这些夫妇采用了下一代测序（NGS）技术。根据携带者的性别和年龄分析了 3423 个囊胚三体的分离模式。共纳入 1492 对接受非整倍体植入前遗传学检测（PGT-A）的夫妇作为对照组，并根据母体年龄和检测时间阶段进行匹配。
在诊断的 3423 个胚胎中，共鉴定出 1728 个（50.5%）正常/平衡胚胎。男性罗伯逊易位携带者的交替分离率明显高于女性携带者（82.3%比 60.0%，P < 0.001）。然而，年轻和年长携带者之间的分离比例没有差异。此外，母体年龄的增加降低了女性和男性携带者可转移胚胎周期的比例。并且，罗伯逊易位携带者组的染色体嵌合体比例明显高于 PGT-A 对照组（1.2%比 0.5%，P < 0.01）。
减数分裂分离模式受携带者性别影响，与携带者年龄无关。高龄产妇获得正常/平衡胚胎的概率降低。此外，罗伯逊易位染色体可能会增加囊胚有丝分裂过程中染色体嵌合体的可能性。
