Enhanced interpretation of newborn screening results without analyte cutoff values
Enhanced interpretation of newborn screening results without analyte cutoff values
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DOI：
10.1038/gim.2012.2
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发表时间：
2012-07-01
影响因子：
8.8
通讯作者：
Hoffman, Gary L.
中科院分区：
文献类型：
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作者：
Marquardt, Gregg;Currier, Robert;Hoffman, Gary L.
目的：通过49个国家的154个实验室的合作，采用一种新的方法，通过串联质谱法提高新生儿筛查的质量。方法：来自12,721例受60种疾病影响的病例的767,464个结果的数据库被用于构建多变量模式识别软件，该软件生成将多个临床显著结果整合到单个评分中的工具。这个分数是由正常和疾病范围之间的重叠，疾病范围内的渗透，条件之间的差异，和加权correction factors.Results：九十工具的目标是一个单一的条件或多种条件之间的鉴别诊断。分数表示为具有相同条件的所有病例之间的百分位数等级，并与解释指南进行比较。过去的情况下，回顾性评价表明，这些工具可以避免至少一半的279个假阳性结果所造成的载体状态的脂肪酸氧化障碍，并可以防止88%的已知的假阴性events.Conclusions：这种计算方法的原始数据的应用是独立于单个分析物的截止值。在明尼苏达州，这些工具一直是持续实现假阳性率低于0.1%和阳性预测值高于60%的主要因素。
Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors.Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events.Conclusions: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%.