Comparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy
Comparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy
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母血游离 DNA 的无创产前检测与羊膜穿刺术评估非整倍体的比较
DOI：
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Pars Advanced General Practitioner
中科院分区：
文献类型：
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作者：
M. Akhlaghdoust;S. Chaichian;Pars Advanced General Practitioner
背景资料：本研究的目的是比较母体血液中无细胞DNA的无创产前检测（NIPT）和子宫穿刺术在非整倍体诊断中的作用。本研究旨在评价NIPT检测非整倍体的敏感性、特异性、准确性、阳性预测值和阴性预测值，并与金标准法进行比较。材料与方法：这项横断面研究在伊朗孕妇（GA≥12周）和NIPT候选人中进行，涉及2016年8月至2018年8月期间德黑兰和伊朗16个省的Nilou实验室。采用SPSS 21软件进行分析研究。结果：11960例拟行NIPT的孕妇中，139例为高危人群。穿刺组和NIPT组参与者的平均（±标准差）年龄分别为33.7 ± 6.4岁和34.4 ± 5.2岁。NIPT对T21、T18和T13三体诊断的特异性分别为99.94%、99.95%和99.97%。失败率计算为0.27。结论：无创性产前检测对非整倍体有很高的敏感性和特异性，但不应作为非整倍体的最终诊断。
Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and methods: This cross sectional study performed on Iranian pregnant women (GA≥12 weeks) and candidate for NIPT, referred to the Nilou laboratory in Tehran and 16 provinces of Iran between Aug 2016 and Aug 2018. Analysis study was performed by SPSS version 21. Results: 11960 pregnant women which candidate for NIPT enrolled in this study and 139 persons detected as high risk for NIPT. The mean (±standard deviation) age of participants was 33.7 ± 6.4 years and 34.4 ± 5.2 years for amniocentesis and NIPT groups, respectively. Specificity of NIPT in the diagnosis of trisomies of T21, T18 and T13 was 99.94%, 99.95% and 99.97% respectively. Failure rate was calculated as 0.27. Conclusion: Non-invasive prenatal testing has very high sensitivity and specificity for aneuploidies but should not be used as a final diagnosis test.
影响因子：
9.3
作者：
Bianchi DW;Wilkins-Haug L
通讯作者：
Wilkins-Haug L