Department of Reproductive Medicine Center, Children's Hospital of Shanxi and Women Health Center of Shanxi, Affiliated of Shanxi Medical University, Taiyuan, China.
Department of Medical College, Datong University of Shanxi, Datong, China.
Mol Genet Genomic Med. 2022 Sep;10(9):e2017. doi: 10.1002/mgg3.2017. Epub 2022 Aug 8.
To investigate the interchromosomal effect (ICE) in chromosome translocation carriers.
Data on preimplantation genetic testing aneuploidy and structural rearrangements (translocation) were retrospectively collected and classified into a reciprocal translocation group, a Robertsonian translocation group and a control group. According to the carrier's gender and age, all cases underwent further subgroup difference analysis of de novo abnormal embryo rates and the number of chromosomes involved in de novo abnormal embryos.
Among the 283 couples who participated in this study, 1076 blastocysts from 352 cycles were collected, and 246 de novo abnormal embryos were included. There was a significant difference in the rate of de novo abnormal embryos among the three groups (p < .05) but no significant difference in the number of de novo abnormal chromosomes in the abnormal embryos (p > .05). Gender and age (classified by 35 years old) had no effect on the de novo abnormal embryo ratios among the translocation carriers (p > .05). However, the de novo abnormal ratio increased with age. The embryo constitution reflected no significant difference between the translocation groups (p > .05).
The ICE was detected for the translocation carriers. The de novo abnormal embryo ratio increased with age. Gender had no effect on the de novo abnormal embryo ratio. Translocation status played a more important role than age and gender.
研究染色体易位携带者的染色体间效应（ICE）。
回顾性收集胚胎植入前遗传学检测非整倍体和结构重排（易位）的数据，并将其分为相互易位组、罗伯逊易位组和对照组。根据携带者的性别和年龄，对所有病例进行进一步的亚组差异分析，比较新发异常胚胎率和新发异常胚胎中涉及的染色体数量。
在 283 对参与本研究的夫妇中，共收集了 352 个周期的 1076 个囊胚，共包括 246 个新发异常胚胎。三组间新发异常胚胎率存在显著差异（p<0.05），但异常胚胎中新发异常染色体数量无显著差异（p>0.05）。性别和年龄（按 35 岁分类）对易位携带者的新发异常胚胎比例无影响（p>0.05）。然而，随着年龄的增长，新发异常比例增加。易位组间胚胎构成无显著差异（p>0.05）。
检测到易位携带者的 ICE。新发异常胚胎比例随年龄增长而增加。性别对新发异常胚胎比例无影响。易位状态比年龄和性别更重要。
