Clinical analysis of the effect of embryonic outcomes in carriers of chromosomal translocations from different parental sources: A retrospective cohort study of 178 couples

IF 1.5 4区医学 Q3 OBSTETRICS & GYNECOLOGY

Journal of Obstetrics and Gynaecology Research Pub Date : 2025-08-26 DOI:10.1111/jog.70044

Yarong Guo, Xinhai Liu, Zehui Xie, Xiaoling Ma

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Abstract

Objective

To investigate the impact of parental origin (paternal vs. maternal) on embryonic developmental potential and clinical outcomes in carriers of balanced chromosomal translocations; to provide evidence for sex-specific genetic counseling.

Study Design

A total of 178 couples undergoing preimplantation genetic testing for structural rearangement treatment for balanced chromosomal translocations at the Center for Reproductive Medicine, First Hospital of Lanzhou University, between January 2019 and December 2022 were retrospectively included. They were stratified into paternal translocation (n = 75) and maternal translocation (n = 103) groups based on parental origin.

Results

(1) Sperm quality parameters (progressive motility, immotile sperm, and normal morphology rate) were significantly lower in paternal translocation carriers compared to maternal translocation carriers. (2) Paternal translocation carriers demonstrated significantly higher blastocyst formation rates (59.82% vs. 52.35%, p = 0.006) and high-quality blastocyst rates (38.61% vs. 31.07%, p = 0.034) than maternal translocation carriers. (3) The transferable embryo rate was significantly lower in the maternal translocation group than in the paternal group (p = 0.004). Among abnormal embryos, the maternal group exhibited higher rates of both parental-origin abnormalities (p = 0.012) and complex abnormalities (p = 0.021) compared to the paternal group. (4) The 2:2 alternate segregation rate was significantly higher in the paternal translocation group than in the maternal group (29.67% vs. 39.83%, p = 0.002). Conversely, the 3:1 segregation rate was significantly higher in the maternal translocation group than in the paternal group (26.33% vs. 17.35%, p = 0.002).

Conclusions

Embryos derived from paternal translocation carriers demonstrated significantly higher developmental potential than those from maternal carriers. The elevated rate of de novo chromosomal abnormalities in embryos of maternal translocation carriers underscores the necessity for genetic counseling that differentiates between translocation-associated and incidental genetic anomalies.

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不同亲本染色体易位携带者胚胎结局影响的临床分析：178对夫妇的回顾性队列研究

目的探讨双亲来源（父系与母系）对平衡染色体易位携带者胚胎发育潜能和临床结局的影响；为性别遗传咨询提供依据。研究设计回顾性纳入2019年1月至2022年12月期间在兰州大学第一医院生殖医学中心接受胚胎植入前基因检测的178对夫妇，以进行结构重排治疗平衡染色体易位。根据亲本来源将其分为父本易位组（n = 75）和母本易位组（n = 103）。结果(1)父亲易位携带者的精子质量参数（进行性运动、不动精子和正常形态率）明显低于母亲易位携带者。(2)父本易位携带者的囊胚形成率（59.82%比52.35%,p = 0.006）和优质囊胚率（38.61%比31.07%,p = 0.034）显著高于母本易位携带者。(3)母亲易位组的可移植胚胎率显著低于父亲易位组（p = 0.004）。在异常胚胎中，与父亲组相比，母亲组表现出更高的亲本来源异常率（p = 0.012）和复杂异常率（p = 0.021）。(4)父系易位组的2比2交替分离率显著高于母系易位组（29.67%比39.83%,p = 0.002）。相反，母亲易位组的3:1分离率显著高于父亲易位组（26.33% vs. 17.35%, p = 0.002）。结论父系易位携带者的胚胎发育潜力明显高于母系易位携带者。母体易位携带者胚胎中新生染色体异常的发生率升高，强调了区分易位相关和偶然遗传异常的遗传咨询的必要性。

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来源期刊

Journal of Obstetrics and Gynaecology Research 医学-妇产科学

CiteScore

3.10

自引率

0.00%

发文量

376

审稿时长

3-6 weeks

期刊介绍： The Journal of Obstetrics and Gynaecology Research is the official Journal of the Asia and Oceania Federation of Obstetrics and Gynecology and of the Japan Society of Obstetrics and Gynecology, and aims to provide a medium for the publication of articles in the fields of obstetrics and gynecology. The Journal publishes original research articles, case reports, review articles and letters to the editor. The Journal will give publication priority to original research articles over case reports. Accepted papers become the exclusive licence of the Journal. Manuscripts are peer reviewed by at least two referees and/or Associate Editors expert in the field of the submitted paper.