染色体微阵列分析技术在超声筛查心室强光点胎儿产前诊断中的应用  

Application of chromosomal microarray analysis in prenatal diagnosis for fetal echogenic intracardiac foci detected by ultrasound

作　　者：胡婷[1] 王嘉敏[1] 刘珊玲[1] 张竹[1] 刘洪倩[1] 张雪梅[1] 朱红梅[1] 王和[1] 

机构地区：[1]四川大学华西第二医院妇产科.出生缺陷与相关妇儿疾病教育部重点实验室,四川成都610041

出　　处：《西部医学》2017年第5期617-621,共5页Medical Journal of West China

基　　金：国家自然科学基金(81270660);四川省科技厅支撑计划项目(2012SZ0136)

摘　　要：目的探讨染色体微阵列分析技术(chromosomal microarry analysis,CMA)在超声筛查心室强光点胎儿产前诊断中的临床应用价值。方法采用美国Affymetrix公司CytoScan 750K芯片对医院183例超声筛查提示心室强光点的胎儿羊水标本进行检测,并用Chas v3.1软件对结果进行分析。结果 183例心室强光点胎儿羊水标本中,CMA共检出染色体异常胎儿9例,异常检出率为4.92%,其中非整倍体3例(21三体1例、XXY 1例、XYY 1例),占总例数的1.64%;具有临床意义拷贝数变异(pathogenic copy number variation,pCNV)6例(其中1例为16p13.11复发性微缺失),占总例数的3.28%。结论与传统染色体核型分析及其他快速产前诊断方法相比,CMA针对全染色体,可有效地额外检出具有临床意义的微缺失/微重复,从而显著提高心室强光点胎儿染色体异常的检出率,可有效降低胎儿出生缺陷的发生。Objective To investigate the clinical application of chromosomal microarray analysis （CMA） in prenatal diagnosis for fetal echogenic intracardiac loci （EICF） detected by ultrasound. Methods From September 2014 to October 2016, amniotic fluid samples from 183 pregnancies with EICF were detected by CMA with Affymetrix CytoScan 750K arraysin our department. The results were analyzed by CHAS v3.1 software. Results Among the 183 cases, abnormalities were detected by CMA in 9 cases （4.92%）. Of these 9 abnormal results, 3 were common aneuploidies （1 trisomy 21, 1 Klinefelter syndrome and 1 XYY） （1.64%）, and 6 were with pathogenic copy number variations （pCNV） （including 1 16p13.11 recurrent microdeletion） （3.28%）. Conclusion Comparing with the traditional karyotyping and other rapid aneuploidy testings, CMA has its advantage over detecting extra clinically significant microdeletions/ microduplications, which significantly increases the detection rate of abnormal fetus with EICF and effectively reduce the occurrence of birth defects.

关 键 词：染色体微阵列分析 拷贝数变异 产前诊断 心室强光点 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]