孕妇血浆游离胎儿DNA检测在产前筛查中的临床应用

Clinical Application of Free Fetal DNA in Maternal Plasma

目的探讨无创性染色体非整倍体检测技术在产前筛查中的应用价值。方法采用高通量基因测序技术对我院3360例(前瞻性研究)孕妇血浆游离胎儿DNA进行检测分析。结果3360例孕妇中报告异常者34例,包括21三体20例,18三体6例和性染色体非整倍体8例。经羊水穿刺染色体核型分析,检出21三体20例及性染色体异常8例中各有2例为假阳性;游离胎儿DNA高通量基因测序技术的敏感度100%(34/34),特异度99.88%(3322/3326),阳性预测值89.47%(34/38),阴性预测值100%(3340/3340)。结论无创性染色体非整倍体检测技术用于产前筛查无创、快速、敏感和准确,提高了产前筛查与诊断的效价比,降低了漏筛率。

Objective To explore the application value of non - invasive chromosome non-integral detection technology in prenatal screening. Methods Using high-throughput gene sequencing technology to our hospital 3360 cases （prospective study） pregnant women serum free fetal DNA testing analysis. Consequence Report abnormal 34 cases in 3360 cases of pregnant women, including 21 trisome 20 cases, 18 trisome 6 cases and sex chromosome aneuploidy 8 cases. After analyzing amniotic fluid puncture karyotype, detected that among trisome 20 cases and abnormal sex chromosome 8 cases, each have 2 cases of false positive results; the sensitivity of the free fetal DNA high-throughput gene sequencing technology was 100%（34/34）, specific degree rate was 99.88% （3322/3326）, positive predictive value was 89.47% （34/38）, negative predictive value was 100% （3340/3340）. Conclusion Noninvasive chromosome aneuploidy detection technology is used for noninvasive prenatal screening, rapid, sensitive and accurate, and it can improve the prenatal screening and the diagnosis of potency ratio, and reduces the leakaze rate of screen.