染色体微阵列技术在自然流产遗传学病因诊断中的应用

Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions

目的应用染色体微阵列分析(chromosomal microarray analysis,CMA)技术探讨自然流产的遗传学病因。方法收集106例自然流产样本,取胎儿组织行CMA检测,分析基因组拷贝数变异。结果检测成功94例,成功率为88.68%。共检出染色体异常54例(57.45%),其中染色体数目异常44例,以非整倍体为主,其次为三倍体和嵌合体。检出致病性拷贝数变异4例,其中两例累及猫叫综合征区域。另检出染色体嵌合体6例。结论染色体数目异常及拷贝数变异是早期自然流产的重要原因。CMA能够快速明确其遗传学病因。本研究显示孕10~11+6周自然流产胎儿染色体异常检出率最高,可为临床咨询提供依据。

Objective To explore the genetic etiology of spontaneous abortions by using chromosomal microarray analysis(CMA).Methods Fetal tissues derived from 106 spontaneous abortion samples were subjected to CMA assay to detect genome copy number variants(CNVs).Results The test was successful in 94 cases(88.68%).Fifty four chromosomal abnormalities were detected,which included 44 numerical chromosomal aberrations mainly consisting of aneuploidies,triploidies and mosaicisms.Four pathogenic CNVs were detected,and two of which involved the Cri-du-chat syndrome regions.In addition,6 chromosomal mosaicism were detected.Conclusion Numerical chromosomal aberrations and CNVs are the main causes for early spontaneous abortions.CMA can effectively reveal the genetic etiology of spontaneous abortions.Spontaneous abortions at gestational weeks 10 to 11^(+6) has the highest rate for chromosomal abnormalities,which may provide valuable information for clinical counseling.