Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
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分析后工具改善了串联质谱法对新生儿筛查的性能。
DOI：
10.1038/gim.2014.62
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发表时间：
2014-12
期刊：
影响因子：
--
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中科院分区：
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本研究的目的是比较区域4鹳合作项目的分析后解释工具的性能指标的实际结果的基础上的氨基酸和酰基肉毒碱的截止值选择的加州新生儿筛查计划。本研究是对2012年1月1日至6月30日期间出生于加州的176，186例受试者的结局进行的回顾性审查。原始数据以.csv文件的形式上传至Region 4 Stork Web门户网站，以使用先前未发布的功能（工具运行器）同时计算48种条件的工具评分。当等于或大于代表已知真阳性病例（共17，099例病例）第一百分位数等级的值时，个体目标条件的评分被视为具有信息性。在研究期间，实际假阳性率和阳性预测值分别为0.26%和10%。使用Region 4 Stork工具、简单的解释规则和二级检验，通过用Region 4 Stork工具替代临界值系统作为分析后解释的主要方法，可以实现低至0.02%的假阳性率和>50%的阳性预测值。在加州，4区鹳解释工具、二级测试和其他基于证据的解释规则可以减少高达90%的假阳性病例。
The purpose of this study was to compare performance metrics of postanalytical interpretive tools of the Region 4 Stork collaborative project to the actual outcome based on cutoff values for amino acids and acylcarnitines selected by the California newborn screening program. This study was a retrospective review of the outcome of 176,186 subjects born in California between 1 January and 30 June 2012. Raw data were uploaded to the Region 4 Stork Web portal as .csv files to calculate tool scores for 48 conditions simultaneously using a previously unpublished functionality, the tool runner. Scores for individual target conditions were deemed informative when equal or greater to the value representing the first percentile rank of known true-positive cases (17,099 cases in total). In the study period, the actual false-positive rate and positive predictive value were 0.26 and 10%, respectively. Utilization of the Region 4 Stork tools, simple interpretation rules, and second-tier tests could have achieved a false-positive rate as low as 0.02% and a positive predictive value >50% by replacing the cutoff system with Region 4 Stork tools as the primary method for postanalytical interpretation. Region 4 Stork interpretive tools, second-tier tests, and other evidence-based interpretation rules could have reduced false-positive cases by up to 90% in California.
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影响因子：
8.8
作者：
Kemper, Alex R.;Green, Nancy S.;Bocchini, Joseph A., Jr.
通讯作者：
Bocchini, Joseph A., Jr.
影响因子：
8.8
作者：
Marquardt, Gregg;Currier, Robert;Hoffman, Gary L.
通讯作者：
Hoffman, Gary L.
DOI：
10.1197/jamia.m3295
发表时间：
2010-01-01
影响因子：
6.4
作者：
Downs, Stephen M.;van Dyck, Peter C.;Downing, Gregory
通讯作者：
Downing, Gregory
影响因子：
120.7
作者：
Waisbren, SE;Albers, S;Levy, HL
通讯作者：
Levy, HL
DOI：
10.1007/8904_2011_122
发表时间：
2012-01-01
期刊：
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/3
影响因子：
--
作者：
de Sain-van der Velden, Monique G. M.;Rinaldo, Piero;van Hasselt, Peter
通讯作者：
van Hasselt, Peter