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首页> 外文期刊>Molecular cytogenetics >Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform
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Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform

机译：胎儿三术13,18和21的非侵入性产前试验的Z分数的准确性分析，该胎儿三粒子13,18和21采用离子质子半导体测序平台的21

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Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not be used to diagnose trisomies. The result of NIPT for an individual woman in most genome-wide methods is calculated as a Z-score. The aim of this study was to assess the correlation between Z-scores of NIPT results and the accuracy of non-invasive prenatal testing. We evaluated 108 pregnant women with positive NIPT results, which were validated through karyotype analysis of amniotic fluid puncture by means of sequencing, bioinformatics analysis, and follow-up. Utilizing the ion proton semiconductor sequencing platform, we report a performance evaluation of NIPT-positive results at Third Affiliated Hospital of Zhengzhou University of Henan Province, China, by classifying Z-scores as 3?≤?Z5, 5?≤?Z??9 and Z?≥?9. The findings indicate that positive NIPT results at Z?≥?9 have a higher accuracy compared with positive NIPT results at 5?≤?Z??9 and 3?≤?Z5. The findings show that Z-scores of NIPT results are closely related to the accuracy of non-invasive prenatal testing. However, false-positive NIPT results at 3?≤?Z5 may occur due to confined placental mosaicism (CPM).
机译：非侵入性产前检测（NIPT）经常用于筛选三粒子13,18和21用于产前诊断。然而，与侵入性测试相比，NIPT在比较时表现不佳，因此不应用于诊断三元。以大多数基因组的方法为单个女性的Nipt的结果计算为Z分数。本研究的目的是评估Z分数的Z-Scores与非侵入性产前试验的准确性之间的相关性。我们通过测序，生物信息学分析和随访通过羊水液穿刺，通过核型分析进行了评估了108名孕妇。利用离子质子半导体测序平台，我们通过将Z-Scores分类为3？Δz<5,5？≤αz，举报了河南省郑州大学第三附属医院的效率评价？<？9和z？≥？9。结果表明，与5Ω··z？<α9和3？≤αz<5的正粘性结果相比，Zα≥≤9的正效率与阳性效果相比具有更高的准确度。结果表明，Z分数的NIPT结果与非侵入性产前测试的准确性密切相关。然而，由于狭窄的胎盘镶嵌（CPM），可能发生假阳性的NIPT结果为3？≤αΔz<5。

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