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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

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McHugh, David M. S. Cameron, Cynthia A. Abdenur, Jose E. Abdulrahman, Mahera Adair, Ona Marie, Sandrine [UCL] Vincent, Marie-Françoise [UCL] Zakowicz, Wendy M.

PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS:: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION:: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders. © 2011 Lippincott Williams & Wilkins.

Document type Article de périodique (Journal article) – Article de recherche
Publication date 2011
Language Anglais
Journal information "Genetics in Medicine" - Vol. 13, no. 3, p. 230-254 (2011)
Peer reviewed yes
Publisher Nature Publishing Group ((United States) Baltimore, MD)
issn 1098-3600
e-issn 1530-0366
Publication status Publié
Affiliation UCL - (SLuc) Service de biochimie médicale
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Bibliographic reference McHugh, David M. S. ; Cameron, Cynthia A. ; Abdenur, Jose E. ; Abdulrahman, Mahera ; Adair, Ona ; et. al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. In: Genetics in Medicine, Vol. 13, no. 3, p. 230-254 (2011)
Permanent URL http://hdl.handle.net/2078.1/163943