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发育医学电子杂志  2025, Vol. 13 Issue (6): 455-461    DOI: 10.3969/j.issn.2095-5340.2025.06.008
  临床遗传   论著 |
自然流产患者胚胎染色体异常的危险因素分析
刘琳   杨岩婷   虎宁   霍虎艳    王芳
 1. 兰州大学  第二临床医学院,甘肃兰州  730000;2. 兰州大学第二医院  生殖医学科,甘肃  兰州  730000
Analysis of risk factors for embryonic chromosomal abnormalities in patients with spontaneous abortion
Liu Lin, Yang Yanting , Hu Ning, et al
1. the  Second  School of Clinical Medicine, Lanzhou University,  Gansu,  Lanzhou 730000,  China; 2. Department  of Reproductive  Medicine,  the  Second Hospital of Lanzhou University, Gansu, Lanzhou 730000, China
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摘要 【摘要】 目的   探讨自然流产患者胚胎染色体异常的危险因素。 方法  采用回顾性研究方法选取 2019 年 9 月至 2024 年 11 月就诊于兰州大学第二医院生殖医学科的 923 例自愿接受胚胎组织染色体检测的自然流产患者作为研究对象,根据胚胎染色体结果将其分为异常组(n=513)和正常组(n=410)。分析 2 组的相关资料、胚胎染色体检测结果及其分布特征,并筛选自然流产患者胚胎染色体异常的危险因素。统计学方法采用独立样本 t 检验、Mann-Whitney U 检验、χ2 检验或 Fisher 确切概率法以及多因素Logistic 回归分析。 结果  在 513 例异常组患者中,累计检测出606 种不同的异常胚胎组织染色体类型,其中非整倍体、结构异常、嵌合体及多倍体的占比分别为 59.08%(358/606)、23.43%(142/606)、9.08%(55/606)和 8.42%(51/606)。异常组女性平均年龄高于正常组 [(31.50±4.22)岁与(30.63±3.90)岁,t=-3.256 , P=0.001] ;异常组的血清同型半胱氨酸(homocysteine,HCY)、25- 羟基维生素 D3[25-hydroxyvitamin D3 , 25-(OH)D3] 水平均低于正常组 [(10.41±4.29)μmol/L 与(11.15±6.86)μmol/L,(14.56±8.10)ng/ml 与(15.91 ±8.76)ng/ml,t 值分别为 2.003、2.426,P 值均 <0.05]。其余指标间差异均无统计学意义(P 值均 >0.05)。多因素 Logistic 回归分析结果显示,女性年龄升高(OR=2.041,95% CI :1.469~2.836)、HCY水平降低(OR=0.973,95% CI :0.947~1.000)和 25-(OH)D3 水平降低(OR=0.978,95% CI :0.963~0.994)是影响胚胎染色体异常的独立风险因素。 结论  自然流产主要由胚胎染色体异常导致,女性高龄、HCY和 25-(OH)D3 水平降低会增加胚胎染色体异常的风险。
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关键词:  自然流产  胚胎染色体异常  拷贝数变异测序  女性年龄  影响因素分析  Logistic 回归分析    
Abstract: 【Abstract 】 Objective    To explore the risk factors for embryonic chromosomal abnormalities in patients with spontaneous abortion.    Method    A total of 923 patients with spontaneous abortion who visited the Department of Reproductive Medicine, the Second Hospital of Lanzhou University from September 2019 to November 2024 and voluntarily underwent karyotype testing of embryonic tissue chromosomes were retrospectively selected as the research subjects.They were divided into the abnormal group (n=513) and the normal group (n=410) according to the embryonicchromosome test results. The relevant data, embryonic chromosome test results and their distribution characteristics between the two groups were analyzed, and the risk factors for embryonic chromosomal abnormalities in patients with spontaneous abortion were identi?ed.Statistical methods were performed by independent samples t-test, Mann-Whitney U test, χ2 test or Fisher exact probability method, and multivariate Logistic regression analysis.    Result    Among the 513 patients in the abnormal group, a total of 606 instances of fetal chromosomal abnormalities were detected. The proportions of aneuploidy, structural abnormalities, chimeras, and polyploidy were 59.08% (358/606), 23.43% (142/606), 9.08% (55/606), and 8.42% (51/606), respectively. The average age of women in the abnormal group was higher than that in the normal group [(31.50±4.22) years vs (30.63 ±3.90) years, t=-3.256, P=0.001]. The levels of serum homocysteine (HCY) and 25-hydroxyvitamin D3   [25-(OH)D3] in the abnormal group were lower than those in the normal group [(10.41 ±4.29) μmol/L vs (11.15±6.86) μmol/L, (14.56±8.10) ng/ml vs (15.91 ±8.76) ng/ml, with t-values of 2.003 and 2.426, respectively, all P<0.05]. There were no statistically significant differences in other indicators (all P>0.05). Multivariate Logistic regression analysis showed that advanced maternal age (OR=2.041, 95% CI: 1.469-2.836), decreased HCY level (OR=0.973, 95% CI: 0.947-1.000), and decreased 25-(OH)D3  level (OR=0.978, 95% CI: 0.963- 0.994) were independent risk factors for embryonic chromosomal abnormalities.    Conclusion     Spontaneous abortion is mainly caused by embryonic chromosomal abnormalities. Advanced maternal age, decreased HCY level, and decreased 25-(OH)D3  level can increase the risk of embryonic chromosomal abnormalities.
Key words:  Spontaneous abortion    Embryonic chromosome abnormality    Copy number variation sequencing    Female age    In?uencing factor analysis    Logistic regression analysis
收稿日期:  2025-04-09                     发布日期:  2025-11-30     
基金资助: 国家自然科学基金(82460306 );甘肃省卫生健康行业科研项目(GSWSKY2024-04 );兰州市科技计划项目(2023-ZD-82 );兰州大学第二医院“萃英科技创新”计划项目(CY2022-MS-B03)
通讯作者:  王芳     E-mail:  ery_fwang@lzu.edu.cn
引用本文:    
刘琳 杨岩婷 虎宁 霍虎艳 王芳. 自然流产患者胚胎染色体异常的危险因素分析[J]. 发育医学电子杂志, 2025, 13(6): 455-461.
Liu Lin, Yang Yanting , Hu Ning, et al. Analysis of risk factors for embryonic chromosomal abnormalities in patients with spontaneous abortion. Journal of Developmental Medicine(Electronic Version), 2025, 13(6): 455-461.
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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2025.06.008  或          http://www.fyyxzz.com/CN/Y2025/V13/I6/455
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