既往自然流产胚胎染色体异常者的囊胚染色体异常发生率

摘要

Objective To explore the chromosomal abnormality rate of the blastocysts of patients with previous chromosome abnormality miscarriage (PCAM) undergoing preimplantation genetic testing for aneuploidies (PGT-A),and investigate the factors affecting the blastocyst abnormal rate.Methods In this retrospective study,the incidence of chromosomal abnormality in the blastocysts from patients undergoing PGT-A with PCAM were compared to the single gene defect patient with PGT-A (control).The relationship between parental age,basal follicle-stimulating hormone (FSH),FSH/luteinizing hormone (LH),body mass index (BMI),the frequency of spontaneous abortions,No.of cycles,MⅡ egg rate,fertilization rate,blastocyst formation rate,the biopsy blastocyst count,the presence of PCAM and the chromosomal abnormality rate of blastocyst were also analyzed by multiple linear regression analysis.Results Multivariate linear regression analysis showed that female age and the presence of PCAM affected the rate of chromosomal abnormalities in biopsies.The chromosomal abnormality rate of blastocyst in PCMA group and control group were 25.29％,27.42％,45.76％ and 18.22％,19.85％,31.55％ (P=0.034,P=0.044,P=0.011) for women aged ≤ 30 years,31-34 years and 35-38 years respectively.For women aged ＞38 years,the chromosomal abnormality rate in PCMA group and control group were 63.64％ and 46.15％ (P=0.227).Conclusion ＞38-year-old PCAM patients have a high rate (over 60％) of chromosomal abnormalityin blastocysts and PGT-A treatment should be recommend to reduce the risk of next miscarriage caused by fetal chromosomal abnormalities.The chromosomal abnormalities of blastocysts in 35-38-year-old patients with PCAM were significantly higher than those in the control group.PGT-A treatment may be considered.%目的 分析既往自然流产胚胎染色体异常(previous chromosome abnormality miscarriage,PCAM)患者囊胚的染色体异常率及其影响因素.方法 回顾性研究比较因PCAM(PCAM组)和因单基因遗传性疾病(对照组)进行植入前胚胎非整倍体遗传学筛查(preimplantation genetic testing foraneuploid,PGT-A)患者的活检囊胚染色体异常率,并分析其与双方年龄、基础促卵泡激素(FSH)、FSH/黄体生成素(LH)、体质量指数(BMI)、既往自然流产次数、新鲜取卵周期数、M Ⅱ卵子率、受精率、囊胚形成率、活检囊胚数和有无PCAM的关系.结果 多重线性回归分析显示,仅女方年龄和有无PCAM对活检囊胚的染色体异常率有影响.女方年龄≤30岁、31～34岁和35～38岁,PCMA组和对照组的囊胚染色体异常率分别为25.29％、27.43％、45.76％和18.22％、19.85％、31.55％(P=0.034、P=0.044、P=0.011);＞38岁时,PCMA组和对照组的囊胚染色体异常率分别为63.64％和46.15％(P=0.227).结论 ＞38岁PCAM患者的囊胚染色体异常率超过60％,建议行PGT-A以降低胚胎染色体异常导致的再次流产风险.35～38岁PCAM患者的囊胚染色体异常率明显高于对照组,可考虑行PGT-A.