赣南医科大学学报2025，Vol.45Issue(9)：852-856,5.DOI:10.3969/j.issn.1001-5779.2025.09.005
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
The relationship between blastocyst morphology and euploidy rate in PGT-SR cycles of balanced translocation carriers
摘要
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.关键词
染色体平衡易位/植入前染色体结构异常遗传学检测/囊胚形态/染色体间效应Key words
Balanced chromosomal translocation/Preimplantation genetic testing for structural rearrangements/Blastocyst morphology/Interchromosomal effect分类
临床医学引用本文复制引用
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(9):852-856,5.基金项目
江西省卫生健康委员会科技计划项目(202312033) （202312033）
