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目的：探讨染色体平衡易位携带者在植入前染色体结构重排遗传学检测（Preimplantation genetic testing for structural rearrangements, PGT-SR）周期中，囊胚的形态学特征与其整倍体率之间的关联性。方法：选取2020年9月至2024年12月期间于赣州市妇幼保健院接受PGT-SR检测的69例平衡易位携带者为研究对象，对其所检测囊胚的PGT-SR检测数据进行回顾性分析，并根据囊胚Gardner形态学评分分为优质囊胚组和非优质囊胚组。比较2组囊胚的整倍体率、嵌合体率及整倍体囊胚平衡异位携带情况。结果：69例平衡易位携带者（89个PGT-SR周期），共活检囊胚361枚，其中优质囊胚196枚，非优质囊胚165枚。优质囊胚组的囊胚整倍体率高于非优质囊胚组、与易位断点无关的非整倍体率低于非优质囊胚组，差异有统计学意义（P<0.05），优质囊胚组与断点相关非整倍体率及嵌合体率均高于非优质囊胚组但差异无统计学意义（P>0.05）。根据患者意愿共有28枚囊胚完成胚胎染色体结构鉴定检查，其中优质囊胚组平衡易位携带率低于非优质囊胚组，未携带平衡易位率高于非优质囊胚组，差异无统计学意义（P>0.05）。结论：在平衡易位携带者的PGT-SR周期中，囊胚形态学评分仅与整倍体率相关，与胚胎是否携带易位无关。临床仅凭囊胚形态学选择胚胎并不可靠，应综合囊胚形态、非整倍体筛查和易位携带状态检测选择胚胎。
Abstract：Objective : To explore the correlation between the morphological characteristics of blastocysts and the euploidy rate in the preimplantation genetic testing for structural rearrangements(PGT-SR) cycles among balanced chromosomal translocation carriers. Methods : A total of 69 balanced translocation carriers who underwent PGT-SR testing at Ganzhou Women and Children's Health Care Hospital from September 2020 to December 2024 were selected as the research subjects. The PGT-SR test data of the blastocysts they were tested were retrospectively analyzed, and the blastocysts were divided into high-quality blastocyst group and non-high-quality blastocyst group according to the Gardner morphological score. The rates of euploidy, mosaicism and the carrying situation of balanced translocation in euploid blastocysts were compared between the two groups. Results : A total of 69 balanced translocation carriers(89 PGT-SR cycles) were included, of the 361 blastocysts biopsied, 196 were high-quality and 165 were poor-quality. The euploidy rate of the high-quality blastocyst group was higher than that of the non-high-quality blastocyst group, and the rate of aneuploidy unrelated to the translocation breakpoints was lower than that of the non-high-quality blastocyst group, with statistically significant differences(P<0. 05). Although the high-quality blastocyst group showed higher rates of breakpoint-related aneuploidy and mosaicism compared to the poor-quality group, the differences were not statistically significant(P>0. 05). Based on patient preference, a total of 28 euploid blastocysts underwent additional analysis for chromosomal structural rearrangements to determine their translocation carrier status, among which the balanced translocation carrier rate of the high-quality blastocyst group was lower than that of the non-high-quality blastocyst group, and the rate of non-carrier of balanced translocation was higher than that of the non-high-quality blastocyst group, but the differences were not statistically significant(P>0. 05). Conclusion : In the PGT-SR cycles of balanced translocation carriers, blastocyst morphological score is correlated with the euploidy rate but is not predictive of whether the embryo carries the balanced translocation. Clinically, selecting embryos solely based on blastocyst morphology is unreliable; instead, embryo selection should integrate blastocyst morphology, aneuploidy screening, and translocation carrier status.
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基本信息:
DOI：
中图分类号:R714.8
引用信息:
[1]廖宝琼,赖丽丹,刘如天.染色体平衡易位携带者PGT-SR周期中囊胚形态与整倍体率的关系[J].赣南医科大学学报,2025,45(09):852-856.
基金信息:
江西省卫生健康委员会科技计划项目（202312033）