SNP array分析技术在胎儿先天性心脏病诊断中的价值

Value of SNP array analysis in diagnosis of fetal congenital heart disease

目的探讨单核苷酸多态性微阵列(SNP array)分析技术在先天性心脏病产前诊断中的应用价值。方法选择因胎儿CHD和/或超声软指标阳性再行产前诊断的孕妇及胎儿200例,行羊水细胞检查染色体核型和SNP array分析,分析两种技术的检出率并判断拷贝数变异的性质。结果普通染色体核型仅检出1例染色体异常,SNP array技术检出22例,其中11例为致病性拷贝数变异,11例为临床意义不明确的CNVs。结论SNP技术可明显提高检出率,对于核型正常的先天性心脏病胎儿具有重要的应用价值。

Objective To explore the application value of single nucleotide polymorphism(SNP)microarray in the prenatal diagnosis of fetal congenital heart disease.Methods A total of 200 pregnant women and fetuses were selected for prenatal diagnosis due to fetal congenital heart disease and/or positive ultrasound soft indicators.Chromosome karyotype and SNP array analysis were performed in amniotic fluid cells to analyze the detection rate of the two techniques and to determine the nature of copy number variation.Results Only 1 case of chromosome abnormality was detected by common karyotype,and 22 cases were detected by SNP array technique,among which 11 cases were pathogenic copy number variation(CNVs)and 11 cases were CNVs with unclear clinical significance.Conclusions SNP technology can significantly increase the detection rate,and has important application value for fetuses with congenital heart disease with normal karyotypes.