摘要
目的分析不同年龄组女性的胚胎染色体情况,探讨年龄因素对其的影响。方法回顾性分析2021年7月至2023年11月在南宁市第二人民医院接受试管治疗,用高通量测序技术进行PGT-A和PGT-M+PGT-A检测胚胎染色体的结果。根据女方年龄将胚胎分为≤30岁组、31~34岁组、35~37岁组、38~40岁组和≥41岁组,比较各组的检测结果。本研究通过了南宁市第二人民医院伦理委员会的审查(批准号:Y2024312A)。结果共纳入390对夫妇,436个PGT周期的1651份囊胚活检样本。共发现835份(50.6%)存在胚胎染色体异常,其中490例(29.7%)涉及非整倍体,154例(9.3%)涉及染色体片段异常,264例涉及染色体嵌合(16.0%)。平衡Gn剂量、女方体质量指数、男方年龄、PGT适应证、不孕类型、促黄体生成素、抗缪勒管激素等参数后,女方年龄是囊胚发生染色体异常和非整倍体的独立影响因素(OR=1.132,95%CI=1.089-1.177,P<0.001;OR=1.250,95%CI=1.188-1.315,P<0.001)。随着女方年龄增高,胚胎染色体异常率增高,各年龄组分别为32.3%(126/390)、43.1%(189/439)、45.1%(116/257)、66.3%(250/377)、81.9%(154/188)(P<0.001);非整倍体的发生率增高,各年龄组分别为8.2%(32/390)、16.6%(73/439)、24.5%(63/257)、49.6%(187/377)、71.8%(135/188)(P<0.001);涉及≥2条染色体异常胚胎在异常胚胎中的占比增高,各年龄组分别为28.6%(36/126)、30.2%(57/189)、39.7%(46/116)、48.4%(121/250)、64.9%(100/154)(P<0.001);而女方年龄与嵌合体囊胚和涉及染色体片段异常无关(P>0.05)。结论随着女方年龄增高,胚胎中的染色体异常率明显增高,同时染色体异常类型发生变化,主要为染色体非整倍体的发生率增高,涉及多条染色体异常的胚胎占比明显增高。
Objective To analyze the chromosome status of pre-implantation embryos from women of different ages,and assess the impact of age on it.Methods A retrospective analysis was carried out on the results of PGT-A and PGT-M+PGT-A cycles by whole-genome amplification followed by next generation sequencing at the Second People's Hospital of Nanning between July 2021 and November 2023.The embryos were divided into five groups based on the women's age:≤30 years old group,31~34 years old group,35~37 years old group,38~40 years old group,and≥41 years old group.The chromosomal status of embryos for each group was compared.This study has been approved by the Ethic Committee of the Hospital(Ethics No.Y2024312A).Results This study has involved 390 couples and 436 PGT cycles,with a total of 1651 blastocysts biopsied and analyzed.Among these,835 embryos(50.6%)were found to have chromosomal abnormalities,including 490(29.7%)with aneuploidies,154(9.3%)with chromosomal segment abnormalities,and 264(16.0%)with chromosome mosaicisms.After adjusting the dosages of Gn,female BMI,male age,PGT indications,infertility type,LH,AMH and other parameters,maternal age appeared to be an independent factor for chromosomal abnormalities and aneuploidies in blastocysts(OR=1.132,95%CI=1.089-1.177,P<0.001;OR=1.250,95%CI=1.188-1.315,P<o.001).With the increase in female age,embryonic chromosome abnormalities have significantly increased in each group,with the rates being 32.3%(126/390),43.1%(189/439),45.1%(116/257),66.3%(250/377),and 81.9%(154/188)(P<0.001).Chromosomal aneuploidies have also significantly increased,with the rates being 8.2%(32/390),16.6%(73/439),24.5%(63/257),49.6%(187/377),and 71.8%(135/188)(P<0.001).The proportion of embryos with≥2 chromosome abnormalities also significantly increased in abnormal embryos,with the rates being 28.6%(36/126),30.2%(57/189),39.7%(46/116),48.4%(121/250),and 64.9%(100/154)(P<0.001).Of note,the female age did not affect the prevalence of chromosomal segment abnormalities and mosaicisms(all P>0.05).Conclusion The findings suggested that along with the increase infemale age,there was an increase in the rate of chromosomal abnormalities,at the same time,the type of chromosomal abnormality changed,mainly with an increased incidence of chromosomal aneuploidy,and the proportion of embryos involving multiple chromosomal abnormalities increases significantly.
作者
韦春艳
李荣
许常龙
黎霓娜
黄颖
张剑
史秋雯
Wei Chunyan;Li Rong;Xu Changlong;Li Ni'na;Huang Ying;Zhang Jian;Shi Qiuwen(Center of Reproductive Medicine,The Third Affiliated Hospital of Guangzi Medical University(The Second People's Hospital of Nanning),Nanning,Guangri 530031,China)
出处
《中华医学遗传学杂志》
2025年第3期257-263,共7页
Chinese Journal of Medical Genetics
基金
广西壮族自治区卫生健康委员会自筹经费科研课题(Z20210397,Z20210453)
广西壮族自治区重大科技专项(桂科AA22096032)
南宁市科学研究与技术开发计划(20223050)
南宁市江南区计划(20230715-07)
南宁市良庆区科学研究与技术重点研发计划(202213,202216,202311)。
关键词
植入前遗传学检测
女性年龄
高通量测序
胚胎
染色体异常
Preimplantation genetic testing
Maternal age
Next generation sequencing
Embryo
Aneuploidy
