胚胎停育与复发性自然流产患者遗传学诊断的研究  

Study on genetic diagnosis in patients with embryo arrest and recurrent spontaneous abortion

作　　者：武雁 宋晖 路天祥 张建芳 宋婷婷 WU Yan;SONG Hui;LU Tianxiang;ZHANG Jianfang;SONG Tingting(Department of Gynecology and Obstetrics,The First Affiliated Hospital of Air Force Medical University,Xi'an,Shaanxi 710032,China)

机构地区：[1]空军军医大学第一附属医院妇产科,陕西西安710032

出　　处：《中国优生与遗传杂志》2024年第10期2078-2082,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的应用染色体微阵列分析(CMA)技术分析复发性自然流产及停育胚胎的遗传学病因,明确常见的染色体异常类型,为指导患者治疗及下次妊娠提供依据。方法回顾性分析空军军医大学第一附属医院2017年10月至2023年12月的276例进行CMA检测的流产组织染色体异常情况。结果276例流产组织中共检出包括染色体非整倍体、多倍体、拷贝数变异等在内的141例致病性染色体异常,致病性异常检出率为51.2%(141/276),检出可能致病性异常11例,占4.0%(11/276),意义不明确异常3例,占1.1%(3/276)。276例流产组织中246例为孕8周左右胚胎停育,致病性染色体异常检出122例,检出率为49.6%(122/246);30例为孕早期自然流产,致病性染色体异常检出19例,检出率为63.3%(19/30)。育龄自然流产及胚胎停育患者235例,致病性染色体异常检出112例,检出率为47.7%(112/235),高龄自然流产及胚胎停育患者41例,致病性染色体异常检出29例,检出率为70.7%(29/41)。结论胚胎停育与复发性自然流产患者致病性染色体异常率较高,遗传因素在自然流产及胚胎停育中起着非常重要的作用。应用CMA对流产组织进行检测有助于明确自然流产及胚胎停育的病因,对指导下次妊娠有一定的意义。Objective To analyze the genetic etiology of recurrent spontaneous abortion and aborted embryos using chromosome microarray analysis(CMA),identify common types of chromosomal abnormalities,and provide a basis for guiding patient treatment and future pregnancy.Methods A retrospective analysis was conducted on 276 cases of chromosomal abnormalities in abortion tissue detected by CMA at the First Affiliated Hospital of Air Force Medical University from October 2017 to December 2023.Results Among the 276 abortion tissues,141 cases of pathogenic chromosomal abnormalities were detected,including chromosome aneuploidy,polyploidy and copy number variations.The detection rate of pathogenic abnormalities was 51.2%(141/276).Additionally,11 cases of potential pathogenic abnormalities were identified,accounting for 4.0%(11/276),and 3 cases of abnormalities of uncertain significance were found,accounting for 1.1%(3/276).The detection rate of pathogenic chromosome abnormalities was 49.6%(122/246).In 30 cases of early pregnancy spontaneous abortion,the detection rate of pathogenic chromosome abnormalities was 63.3%(19/30).The detection rate of was 47.7%(112/235)in 235 cases of spontaneous abortion and embryo arrest at childbearing age,and 70.7%(29/41)in 41 cases of advanced age.Conclusion There is a high rate of pathogenic chromosome abnormalities in patients with embryo loss and recurrent spontaneous abortion,indicating that genetic factors play a significant role in the pathogenesis of spontaneous abortion and embryo loss.CMA is effective in identifying the causes of spontaneous abortion and embryo arrest,and it holds considerable importance in guiding future pregnancy.

关 键 词：胚胎停育 复发性自然流产 染色体微阵列分析 染色体异常 

分 类 号：R714.21[医药卫生—妇产科学]