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作 者:闵爱萍[1] 许洪梅[1] 冯欣[1] 罗晓[1] 梁琼华[1] MIN Ai-ping;XU Hong-mei;FENG Xin;LUO Xiao;LIANG Qiong-hua(Department of Obstetrics and Gynecology,Leshan Peoples Hospital,Leshan 614000,China)
出 处:《广东医科大学学报》2022年第2期222-225,共4页Journal of Guangdong Medical University
基 金:四川省医学科研青年创新课题项目(Q16036)。
摘 要:目的分析稽留流产的病因。方法收集100例稽留流产的胚胎或绒毛组织行高通量测序技术检测,分析导致稽留流产原因。结果100例样本中染色体数目异常52.0%,结构异常2.0%;染色体非整倍体率为96.3%(52/54),以染色体结构重复为主,缺失次之;夫妻染色体异常导致的胚胎染色体异常为18.5%(10/54);微重复(<10 Mb)占16.7%(9/54);拷贝数变异(CNV)84例,致病CNV有65个(占77.4%)。在其他影响因素中,以病原微生物感染、高纤维蛋白原血症、高同型半胱氨酸血症较多。结论稽留流产最常见原因是胚胎染色体异常。Objective To analyze the causes of missed abortion.Methods The embryo or villus tissue of 100 missed abortion cases underwent high-throughput sequencing.The causes of missed abortion were analyzed.Results The abnormal number and structure of chromosomes were 52.0%and 2.0%.The chromosomal aneuploidy was 96.3%(52/54),with duplication and deletion being the most.Chromosomal abnormalities in embryos caused by marital chromosomal abnormalities and microduplications(<10 Mb)were 18.5%(10/54)and 16.7%(9/54),respectively.The copy number variation(CNV)were seen in 84 cases,of which 65 CNVs(77.4%)were pathogenic.Among other influencing factors,pathogenic infections,hyperfibrinogenemia and hyperhomocysteinemia were more common.Conclusion Chromosomal abnormalities in embryos are the most common causes of missed abortion.
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