无创产前基因检测技术的临床应用效果分析

发布时间：2018-05-06 11:21

本文选题：无创产前基因检测技术 + 唐氏综合征　；参考：《中国卫生检验杂志》2016年03期

【摘要】：目的分析无创产前基因检测技术(noninvasive prenatal testing,NIPT)在杭州市萧山区产前筛查工作中的临床应用效果。方法选取2013年10月-2014年9月在杭州市萧山区产前筛查中心就诊的15 353例孕妇,对符合血清学筛查条件的14 883例孕妇进行血清学筛查,对不符合血清学筛查条件、血清学产前筛查高风险、血清学筛查临界风险的1 517例孕妇,进行NIPT检测或者产前诊断。然后再对NIPT检测高风险孕妇进行羊水穿刺染色体核型分析确诊,并随访所有孕妇的妊娠结局。结果进行NIPT检测的1 246例孕妇中发现高风险孕妇8例,经染色体核型分析后确诊6例,2例为假阳性,1例为假阴性。NIPT的特异度为99.84%,灵敏度为85.71%。与血清学产前筛查比较,NIPT的假阳性率明显降低,差异有统计学意义(χ~2=84.79,P0.01)。结论 NIPT具有较高的灵敏度和特异度,目前在萧山区作为产前筛查的一种常规补充手段,血清学筛查高风险孕妇的进一步诊断率得到了大幅度的提高,更大程度地避免了先天缺陷儿的出生。
[Abstract]:Objective to analyze the clinical effect of noninvasive prenatal testing (NIPT) in prenatal screening in Xiaoshan District, Hangzhou. Methods from October 2013 to September 2014, 15 353 pregnant women in Hangzhou Xiaoshan District Prenatal screening Center were selected and 14 883 pregnant women who met the criteria of serological screening were selected for serological screening. A total of 1 517 pregnant women with high risk of serological prenatal screening and critical risk of serological screening were tested for NIPT or prenatal diagnosis. Then the NIPT analysis of high risk pregnant women was confirmed by amniocentesis and the pregnancy outcome was followed up. Results among the 1 246 pregnant women detected by NIPT, 8 were found to be at high risk, and 6 were diagnosed as false positive and 1 false negative by karyotype analysis. The specificity of NIPT was 99.84 and the sensitivity was 85.71. The false positive rate of NIPT was significantly lower than that of serological prenatal screening (蠂 ~ (2 +) = 84.79) (P < 0.01). Conclusion NIPT has high sensitivity and specificity. At present, as a routine supplementary method for prenatal screening in Xiaoshan District, the further diagnosis rate of serological screening for high-risk pregnant women has been greatly improved. To a greater extent, the birth of a child with congenital defects is avoided.
【作者单位】：浙江萧山医院产前筛查中心;
【基金】：杭州市萧山区科技局社会发展重大科技攻关项目(20-14216)
【分类号】：R714.55

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