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目的：探讨无创性染色体非整倍体检测技术在临床中的应用价值。方法采用高通量基因测序技术对1680例孕妇进行母体血浆游离胎儿 DNA 检测，分析胎儿染色体拷贝数。结果异常者进一步行羊水或脐血穿刺染色体核型分析以确诊。结果1680例孕妇中共报告异常19例，包括21三体10例，18三体3例，性染色体非整倍体6例。经羊水或脐血染色体核型分析，检出的10例21三体中1例为假阳性，6例性染色体异常中1例为假阳性。游离胎儿 DNA 高通量基因测序技术的敏感度为100％（17／17），特异度为99．88％（1661／1663），阳性预测值为89．47％（17／19），阴性预测值为100％（1661／1661）。结论利用高通量基因组测序技术检测孕妇血浆游离胎儿 DNA 行无创产前检测胎儿染色体非整倍体，具有无创、快速、敏感特异等优势，具有临床实际应用价值。“,”Objective To investigate the value of noninvasive chromosome aneuploidy detection technology.Method High-flux sequencing was applied to analyze fetal chromosome sequence copy numbers in 1680 pregnant women.Fetal karyotyping was carried out on positive samples by amnioeentesis or cordocentesis.Results Nineteen cases were detected with fetal chromosomal abnormalities by high-flux sequencing analysis,including 10 cases of trisomy 21 ,3 cases of trisomy 18,6 cases of sex chromosome aneuploidy.One case of trisomy 21 and one case of sex chromosome abnormalities were false positive identified by karyotyping.trisomy).The sensitivity and specificity of high-flux sequencing were 100%(17/17)and 99.88% (1661/1663 ),respectively.The positive predictive value was 89.47% (17/19 ), and negative predictive value of 100% (1661/1661 ).Conclusions High-fluxsequencing analysis of free DNA derived from maternal plasma is noninvasive,rapid and highly sensitive and specific for detecting fe-tal chromosomal aneuploidies,which therefore has a broad clinically practical value.