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羊水细胞染色体核型分析结合CMA在孕妇产前诊断中的应用分析曾研章广东省阳江市妇幼保健院，广东阳江 529500[摘要] 目的 探讨羊水细胞染色体核型分析结合染色体微阵列分析（CMA）在孕妇产前诊断中的应用价值。
方法 纳入2018年4月～2019年3月我院行产前诊断的126例孕妇为研究对象，所有孕妇均接受羊水细胞染色体核型分析，同时接受CMA分析，比较两种方法的检出结果。
结果 胎儿染色体非整倍体异常的检出情况显示CMA检测和羊水细胞染色体核型分析结果一致，作出了DNA水平的精细分析；经CMA检出染色体不平衡变异与染色体核型分析结果相同，并且更加精确的作出异常定位，显示亚显微水平的微缺失与微重复。
1例低水平嵌合，CMA检无法完全检出，另1例染色体核型分析结果与CMA检测一致，并且CMA 检测显示出更为精确的异常位点；羊水细胞染色体核型分析正常但CMA异常的胎儿拷贝数具有致病性，CMA技术检出率比羊水细胞染色体核型分析提高2.38%（3/126）。
结论 CMA技术在孕妇产前诊断中的有效性和准确性更高，临床上可以结合两种检测方式提高胎儿出生缺陷的检出率。
[关键词] 产前诊断；羊水细胞染色体核型分析；染色体微阵列分析；不平衡变异；微缺失；微重复；检出率[中图分类号] R714.5 [文献标识码] A [文章编号] 2095-0616（2019）24-96-04Analysis on application of amniotic fluid cell chromosome karyotype analysis combined with CMA in prenatal diagnosis of pregnant womenZENG YanzhangYangjiang Maternal and Child Health Hospital,Guangdong,Yangjiang 529500,China[Abstract] Objective To explore the application value of amniotic fluid cell chromosome karyotype analysis combined with chromosome microarray analysis(CMA)in prenatal diagnosis of pregnant women.Methods126 pregnant women who underwent prenatal diagnosis in our hospital from April 2018 to March 2019 were selected as research objects.All pregnant women received amniotic fluid cell chromosome karyotype analysis and CMA analysis. The detection results of the two methods were compared. Results The detection of fetal chromosome aneuploidy abnormalities showed that CMA detection was consistent with the results of chromosome karyotype analysis of amniotic fluid cells,and detailed analysis of DNA level was made.The chromosome imbalance variation detected by CMA was the same as the result of karyotype analysis,and the abnormal location was more accurate,showing microdeletion and microduplication at the sub-microscopic level.There was 1 case of low level chimerism,which could not be completely detected by CMA test.Another karyotype analysis result was consistent with CMA detection,and CMA detection showed more accurate abnormal sites.Amniotic fluid cell karyotype analysis was normal,but abnormal fetal copy number of CMA was pathogenic.The detection rate of CMA technology was 2.38%(3/126),higher than that of amniotic fluid cell karyotype analysis. Conclusion CMA technology is more effective and accurate in prenatal diagnosis of pregnant women.Clinically,two detection methods can be combined to improve the detection rate of fetal birth defects.[Key words]Prenatal diagnosis;Amniotic fluid cell chromosome karyotype analysis;Chromosome microarray analysis;Unbalanced variation;Microdeletion;Microduplication;Detection rate产前诊断在预防出生缺陷胎儿中是一条主要的途径，羊膜腔穿刺羊水细胞染色体核型分析是用于产前诊断染色体异常的“金标准”，对于非整倍体的检出率较高，对于10Mb及以上的缺失或重复、胎儿染色体数目异常和结构异常均可作出全面的分析[1]。
