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目的探讨无创DNA产前筛查技术(NIPT)在胎儿非整倍体产前筛查中的临床应用价值。方法采用NIPT对5919例孕妇进行胎儿染色体非整倍体筛查,对高风险结果进行羊水细胞核型分析验证,低风险结果随访。结果 NIPT结果显示共有21-三体高风险43例,18-三体高风险22例,13-三体高风险7例,性染色体异常13例。羊水细胞核型分析验证结果显示21-三体43例,18-三体20例,13-三体2例,性染色体异常7例。低风险结果随访中发现1例21-三体。NIPT总体假阳性率为0.22%(13/5919),针对21-三体的敏感性和特异性分别为97.78%(43/44)和100.00%。结论 NIPT是一种高效、高准确性和非侵入性的胎儿染色体非整倍体产前筛查手段,能显著降低侵入性产前诊断率,具备实际临床价值。
Objective To investigate the clinical value of noninvasive DNA prenatal screening (NIPT) in prenatal screening of fetal aneuploidy. Methods Fetal chromosome aneuploidy screening was performed on 5919 pregnant women by NIPT. High-risk results were verified by amniotic fluid karyotype analysis and low-risk results were followed up. Results The NIPT results showed that there were 43 cases with high 21-trisomy, 22 cases with high trisomy 18, 7 cases with high trisomy 13 and 13 cases with sex chromosome abnormalities. Amniotic fluid karyotype analysis showed that the 21-trisomy 43 cases, 18-trisomy 20 cases, 13-trisomy in 2 cases, 7 cases of sex chromosome abnormalities. One case of 21-trisomy was found in the low-risk outcome follow-up. The overall false positive rate of NIPT was 0.22% (13/5919), and the sensitivity and specificity for 21-trisomy were 97.78% (43/44) and 100.00% respectively. Conclusion NIPT is an efficient, accurate and noninvasive prenatal screening method for fetal aneuploidy, which can significantly reduce the rate of invasive prenatal diagnosis and has practical clinical value.