探讨染色体微阵列分析技术在产前诊断中的应用

目的探讨染色体微阵列分析(CMA)技术在产前诊断中的临床应用价值。方法选择2018年7月至2019年6月在滨州医学院附属医院行羊膜腔穿刺的132例单胎孕妇为研究对象,采用传统染色体核型分析技术与CMA技术对所有病例进行检测,并分析比较两种方法所得出的检测结果。结果本研究中染色体核型分析检出1例染色体不平衡变异与13例胎儿非整倍体,CMA检测结果与之相同,但CMA可更精确地给出染色体不平衡变异的异常位点。此外,在3例染色体核型正常的胎儿中,CMA亦检出致病性基因的拷贝数变异,从而对疾病的诊断率提高2.27%。在4例核型正常的胎儿中,CMA检出临床意义不明确的拷贝数变异(CNV),检出率为3.03%;但CMA不能检测出染色体倒位、多态性及平衡易位。结论对非整倍体和不平衡染色体变异的检出率,CMA与核型分析相同,但CMA的敏感性和分辨率更高,同时亦可检出其他有临床意义的基因拷贝数。但因CMA技术自身亦有局限性,尚不可完全替代传统染色体核型分析技术。

Application of chromosome microarray analysis technology in prenatal diagnosis

Objective To investigate the clinical application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods Totally 132 pregnant women who underwent amniocentesis in Binzhou Medical University Hospital from July 2018 to June 2019 were selected as subjects. The traditional karyotype analysis and CMA test were performed in all cases. The data acquired from these two methods were statistically analyzed. Results Thirteen cases with chromosomal aneuploidies, 1 case with unbalanced rearrangements were detected both from karyotyping and CMA, while CMA could more accurately give the abnormal sites of copy number variation. Submicroscopic rearrangements with pathological significance were detected in 3 cases with normal karyotypes (+2.27%) and CNV of unclear significance were detected in 4 cases (3.03%). However, the chromosome inversion, polymorphism and balance translocation could not be detected by CMA. Conclusion Compared to karyotype analysis, CMA technology has the same detection efficiency for aneuploidy and copy number variations, while CMA has higher sensitivity and resolution, and can also find additional clinical significant gene copy number. However, the CMA analysis technique itself has limitations, so CMA cannot completely replace the traditional karyotype analysis technology.