染色体微阵列分析技术在411例自然流产原因分析中的应用

Application of Chromosome Microarray Analysis in Cause Analysis of 411 Cases of Abortion

目的探索染色体微阵列分析技术(chromosomal microarray analysis,CMA)在自然流产原因分析中的应用价值。方法采用CMA技术对411例自然流产标本进行全基因组拷贝数变异(copy number variants,CNVs)进行检测。结果411例流产标本,检测成功389例,成功率94.6%。染色体异常标本202例(49.1%),其中染色体数目异常180例,结构异常22例。结论CMA技术能检测出染色体拷贝数变异,可以为流产物检测提供较为全面的评估,为患者解释临床表现并评估预后。

Objective:To explore the application value of chromosome microarray analysis(chromosomal microarray analysis,CMA)in spontaneous abortion cause analysis.Methods:The whole genome copy number variation(copy number variants,CNVs)of 411 spontaneous abortion specimens was detected by CMA technique.Results:In 411 cases of abortion specimens,390 cases were detected successfully,and the success rate was 94.6%.Chromosome abnormalities were found in 202(49.1%),of which 22 were abnormal and 180 were abnormal.Conclusion:CMA technology can detect chromosome copy number variation,provide a more comprehensive evaluation for abortion detection,explain clinical manifestations and evaluate prognosis for patients.