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Higher chromosomal abnormality rate in blastocysts from young patients with idiopathic recurrent pregnancy loss
Fertility and Sterility ( IF 6.6 ) Pub Date : 2020-04-01 , DOI: 10.1016/j.fertnstert.2019.11.016
Xin-Yan Liu , Qi Fan , Jing Wang , Rong Li , Yan Xu , Jing Guo , Yi-Zi Wang , Yan-Hong Zeng , Chen-Hui Ding , Bing Cai , Can-Quan Zhou , Yan-Wen Xu

OBJECTIVE To determine whether the incidence of chromosomal abnormalities in blastocysts is higher in patients with idiopathic recurrent pregnancy loss (iRPL) who underwent preimplantation genetic testing for aneuploidy (PGT-A) than in those who underwent preimplantation genetic testing for monogenic defects (PGT-M). DESIGN Retrospective cohort study. SETTING University-affiliated reproductive center. PATIENT(S) A total of 62 patients with iRPL underwent 101 PGT-A cycles (iRPL group), and 212 patients underwent 311 PGT-M cycles (control group). INTERVENTIONS(S) Blastocyst biopsy and comprehensive chromosome screening technologies, including single-nucleotide polymorphism microarrays and next-generation sequencing. MAIN OUTCOME MEASURE(S) Incidence of chromosomal abnormalities in blastocysts and clinical miscarriage (CM) rate. RESULT(S) Stratification analysis by maternal age showed an increased incidence of chromosomal abnormalities in the iRPL group aged ≤35 years (48.9% vs. 36.9%), whereas no significant increase was found in the iRPL group aged >35 years (66.9% vs. 61.4%). After transfer of euploid embryos, women aged ≤35 years with iRPL exhibited an increased CM rate compared with the control group (26.1% vs. 3.1%). CONCLUSION(S) Young patients with iRPL have a significantly higher rate of chromosomal abnormalities in blastocysts compared with patients with no or sporadic CM. Although euploid embryos were transferred after PGT-A, young patients with iRPL had a higher CM rate, which may indicate that chromosomal abnormalities might not be the only causal factor for iRPL. Therefore, the role of PGT-A in iRPL still needs to be clarified.

中文翻译:

特发性复发性流产年轻患者的囊胚染色体异常率较高

目的 确定接受非整倍体植入前遗传学检测 (PGT-A) 的特发性复发性流产 (iRPL) 患者的囊胚染色体异常发生率是否高于接受单基因缺陷的植入前遗传学检测 (PGT-M) 的患者。 )。设计 回顾性队列研究。设置 大学附属生殖中心。PATIENT(S) 共有62名iRPL患者接受了101个PGT-A周期(iRPL组),212名患者接受了311个PGT-M周期(对照组)。干预措施(S)囊胚活检和综合染色体筛查技术,包括单核苷酸多态性微阵列和下一代测序。主要结局指标 囊胚染色体异常的发生率和临床流产 (CM) 率。结果 按产妇年龄分层分析显示,≤ 35 岁 iRPL 组的染色体异常发生率增加(48.9% 对 36.9%),而年龄 > 35 岁的 iRPL 组未发现显着增加(66.9%) 61.4%)。整倍体胚胎移植后,与对照组相比,年龄≤35 岁的 iRPL 女性的 CM 率增加(26.1% 对 3.1%)。结论 (S) 与没有或散发 CM 的患者相比,年轻的 iRPL 患者的囊胚染色体异常率显着更高。尽管在 PGT-A 后移植了整倍体胚胎,但年轻的 iRPL 患者的 CM 率较高,这可能表明染色体异常可能不是 iRPL 的唯一原因。因此,PGT-A在iRPL中的作用仍有待阐明。
更新日期:2020-04-01
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