四川大学学报（医学版）2017，Vol.48Issue(5)：732-735,754,5.
染色体微阵列分析在检测自然流产胚胎染色体异常中的应用
Application of Chromosomal Microarray Analysis for Chromosomal Abnormalities of Spontaneously Aborted Fetuses
摘要
Abstract
Objective To evaluate the clinical significance of chromosomal microarry analysis (CMA) for detection of chromosomal abnormalities in spontaneously aborted fetuses.Methods Chorionic villi samples from 431 spontaneously aborted fetuses were detected on the chromosomal abnormalities by CMA in our department form September 2014 to April 2016.Results The overall success rate of CMA was 100％,and 283 cases were detected with abnormalities (65.67％).Of these 283 cases with abnormal results,126 were common aneuploidies (trisomy 13,16,18,21,22 as well as X and Y aneuploidies) (44.52 ％),72 were uncommon aneuploidies (25.44 ％),10 were composited aneuploidies (3.53 ％),9 were partial aneuploidies (3.18 ％),29 were polyploidy (10.25 ％),4 were mosaicism (1.41％),31 were with multiple duplications and deletions (10.96％),and 2 were micro-duplication/micro-deletion syndromes.Conclusion CMA has great advantage for the detection of chromosomal abnormalities in spontaneously aborted fetuses comparing with fluorescence in situ hybridization (FISH).It is of great clinical significance for etiological diagnosis of spontaneous abortion and guidance on reproduction.关键词
染色体微阵列分析/自然流产/染色体异常Key words
Chromosomal microarray analysis/Spontaneous abortion/Chromosomal abnormalities引用本文复制引用
胡婷,朱红梅,张竹,王嘉敏,张海霞,杜泽,李玲萍,王和,刘珊玲..染色体微阵列分析在检测自然流产胚胎染色体异常中的应用[J].四川大学学报（医学版）,2017,48(5):732-735,754,5.基金项目
国家自然科学基金(No.81270660)和四川省科技厅科技支撑计划项目(No.2012SZ0136)资助 （No.81270660）
