Development of Strategies to Decrease False Positive Results in Newborn Screening.
Development of Strategies to Decrease False Positive Results in Newborn Screening.
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DOI：
10.3390/ijns6040084
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发表时间：
2020-11-02
影响因子：
3.5
通讯作者：
la Marca G
中科院分区：
文献类型：
--
作者：
Malvagia S;Forni G;Ombrone D;la Marca G
国家新生儿筛查方案的扩大在诊断和早期治疗几种罕见的遗传性疾病方面带来了巨大好处，防止了对大多数受影响婴儿的不良健康后果。新的技术发展使得能够实施涵盖50多种疾病的测试小组。因此，假阳性率的增加导致大量健康婴儿被召回进行昂贵且通常是侵入性的额外检测，从而引发了关于扩大新生儿筛查的危害-效益比的辩论。假阳性率对在国家统计局系统中工作的医疗保健提供者来说是一个挑战。在这里，我们概述了最常用的策略，以减少不良反应，由于不确定的筛选结果。重点是通过实施分析方法，应用新的和更多信息的生物标志物，并通过使用分析后解释工具来提高NBS的性能。这些策略，作为NBS过程的一部分，可以提高测试的阳性预测值，减少父母的焦虑和与不必要的测试和程序相关的医疗费用。
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological developments have enabled the implementation of testing panel covering over 50 disorders. Consequently, the increment of false positive rate has led to a high number of healthy infants recalled for expensive and often invasive additional testing, opening a debate about the harm-benefit ratio of the expanded newborn screening. The false-positive rate represents a challenge for healthcare providers working in NBS systems. Here, we give an overview on the most commonly used strategies for decreasing the adverse effects due to inconclusive screening results. The focus is on NBS performance improvement through the implementation of analytical methods, the application of new and more informative biomarkers, and by using post-analytical interpretive tools. These strategies, used as part of the NBS process, can to enhance the positive predictive value of the test and reduce the parental anxiety and healthcare costs related to the unnecessary tests and procedures.