无创产前基因检测技术与传统唐氏筛查效果的对比研究

Comparative Study on the Effect of Non-Invasive Prenatal Gene Detection Technology and Traditional Down's Screening

目的对比无创产前基因检测技术与传统唐氏筛查的效果。方法选择2016年1月至2018年3月在我院进行唐氏综合征疾病筛查的386例孕妇作为研究对象,所有孕妇均行无创产前基因检测与传统唐氏筛查,比较两种检查方法的筛查效果。结果无创产前基因检测技术对高风险的检出率为4.9%,显著低于传统血清学筛查的9.3%(P <0.05);而对低风险的检出率为95.1%,显著高于传统血清学筛查的90.7%(P <0.05)。无创产前基因检测技术的假阳性率为0.0%,显著低于传统血清学筛查的4.4%(P <0.05);无创产前基因检测技术的阳性率为4.9%,显著低于传统血清学筛查的9.3%(P <0.05)。结论无创产前基因检测具有无创、敏感性高、安全性高的优点,对胎儿唐氏综合征具有较高的筛查价值,值得临床选择。

Objective To compare the effects of non-invasive prenatal gene detection technology and traditional Down's screening. Methods 386 pregnant women with Down's syndrome screening in our hospital from January 2016 to March 2018 were selected as study subjects, and all cases were given non-invasive prenatal gene detection and traditional Down's screening. The effects of two screening methods were compared. Results The detection rate of high risk by non-invasive prenatal gene detection technology was 4.9%, significantly lower than 9.3% by traditional serological screening, while the detection rate of low risk was 95.1%, significantly higher than 90.7% by traditional serological screening, with statistically significant differences (P <0.05). The false positive rate of non-invasive prenatal gene detection technique was 0.0%, significantly lower than 4.4% of traditional serological screening, and the positive rate of non-invasive prenatal gene detection technique was 4.9%, significantly lower than 9.3% of traditional serological screening, with statistically significant differences (P <0.05). Conclusions Non-invasive prenatal gene detection has the advantages of non-invasion, high sensitivity and high safety, which has high screening value for fetal Down's syndrome, and is worthy of clinical choice.