染色体微阵列分析技术在自然流产病因学分析中的应用研究  

Study on application of chromosomal microarray analysis technology in etiological analysis of spontaneous abortion

作　　者：令狐克燕 卓召振 匡颖[1] 任凌雁[1] 靳倩 李頔 骆姝琳[1] Linghu Keyan;Zhuo Zhaozhen;Kuang Ying;Ren Lingyan;Jin Qian;Li Di;Luo Shulin(Department of Medical Genetics/Prenatal Diagnosis Center,People’s Hospital of Guizhou Province,Guiyang 550002,Guizhou,China)

机构地区：[1]贵州省人民医院医学遗传科/产前诊断中心,贵州贵阳550002

出　　处：《贵州医药》2023年第12期1854-1855,1858,共3页Guizhou Medical Journal

基　　金：贵州省遗传病诊断与发病机制研究科技创新人才团队(基金编号:黔科合平台人才[2020]5011)。

摘　　要：目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)技术在自然流产遗传因素分析中的应用,研究染色体异常与胚胎停育之间的关系。方法收集流产组织样本94例,应用CytoScan Optima芯片进行检测,分析造成胚胎停育的遗传学病因。结果成功检测91例样本,共检测出异常样本50例(54.95%),其中数目异常47例(94.00%),结构异常3例(6.00%)。结论染色体异常是导致胚胎停育的主要原因,CMA技术可对胚胎停育的遗传因素作出较为全面的评估,是一种可靠、稳定、高分辨的技术,可应用于临床流产的遗传学诊断,检测结果便于医生分析流产病因,对再生育风险评估提供指导。Objective To investigate the application of chromosome microarray analysis(CMA)in the analysis of genetic factors of spontaneous abortion,and study the relationship between chromosomal abnormalities and embryo termination.Methods 94 cases of abortion tissue samples were collected and detected with CytoScan Optima chip to analyze the genetic causes of embryo termination.Results 91 samples were successfully detected,a total of 50(54.95%)abnormal samples were detected,47(94.00%)of which were abnormal in number and 3(6.00%)of which were abnormal in structure.Conclusion Chromosome abnormality is the main cause of embryo termination.CMA technology can comprehensively evaluate the genetic factors of embryo termination.It is a reliable,stable and high-resolution technology that can be applied to the genetic diagnosis of clinical abortion.The detection results are convenient for doctors to analyze the causes of abortion and provide guidance for the risk assessment of reproduction.

关 键 词：染色体微阵列分析 自然流产 遗传学 染色体异常 

分 类 号：R714.21[医药卫生—妇产科学]