不同受精方式早期自然流产物染色体异常分析  

Detection for chromosomal aberrations in early spontaneous miscarriages following different fertilization methods

作　　者：张婷[1] 洪燕[1] 申琳[1] 孙赟[1] 姚宁[1] Zhang Ting, Hong Yan, Shen Lin, Sun Yun, Yao Ning(Center for Reproductive Medicine, Renji Hospital School of Medicine, Shanghai Jiao Tong University, Shanghai 200135, Chin)

机构地区：[1]上海交通大学医学院附属仁济医院生殖中心上海市辅助生殖与优生重点实验室,200135

出　　处：《中华生殖与避孕杂志》2018年第8期688-691,共4页Chinese Journal of Reproduction and Contraception

摘　　要：目的探讨不同受精方式对临床早期自然流产组织的染色体异常分布的影响。方法回顾性分析102例早期流产患者的临床资料,应用微阵列比较基因组杂交技术(array-based comparative genomic hybridization,a CGH)比较体外受精(IVF)组(35例)、卵胞质内单精子注射(ICSI)组(31例)、对照组(自然妊娠及夫精人工授精组,36例)流产组织染色体异常率及拷贝数变异(copy number variants,CNVs)。结果流产组织染色体异常率3组间比较差异无显著统计学意义,其中三倍体最常见,其次为微重复/微缺失、单体等。IVF/ICSI微刺激促排卵患者流产组织核型异常比例最高,随着流产次数增加,正常核型胚胎比例增加。共检测出20个CNVs,9个CNVs为基因组微重复,11个CNVs为基因组微缺失。结论不同受精方式不影响其自然流产妊娠物染色体异常率及异常分布,有意义的CNVs及其包含的流产相关候选基因将为进一步揭示自然流产原因提供研究方向。Objective To investigate the effects of different fertilization methods on chromosomal abnormalities in early clinical spontaneous abortion. Methods A cohort study was performed on 102 patients with first trimester miscarriages. Patients were grouped by type of conception： conventional in vitro fertilization group （IVF group） （n=35）, intracytoplasmic sperm injection group （ICSI group） （n=31）, and control group [natural conception or intrauterine insemination （IUI）] （n=36）. Array-based comparative genomic hybridizationa （aCGH） was used for the product of conception （POC） analysis. Copy number variants （CNVs） were compared with those present in the Database of Genomic Variants. Results There was no statistic difference in the abnormality rate between these three groups. Trisomy constitutes most of the abnormalities, followed by micro duplications/ deletions, monosomy, et al. The abnormality rate is significantly higher in mild stimuli group. The frequency of normal embryonic karyotype increased as the number of miscarriages increased. Twenty CNVs were identified, 9 CNVs were submicroscopic genomic gains and 11 were losses. Conclusion Different fertilization methods do not affect the chromosomal abnormality rate and abnormal distribution of pregnancy in spontaneous abortion. The meaningful CNVs and the abortion-related candidate genes involved will provide a research direction for further revealing the causes of spontaneous abortion.

关 键 词：微阵列比较基因组杂交(aCGH) 流产 妊娠物 辅助生殖技术(ART) 拷贝数变异(CNVs) 

分 类 号：R714.21[医药卫生—妇产科学]