mirage

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

Boloka/Manakin Repository

Show simple item record

dc.contributor.author Klopper, Brenda
dc.contributor.author Vorster, Barend Christiaan
dc.contributor.author McHugh, David M.S.
dc.contributor.author Cameron, Cynthia A.
dc.contributor.author Abdenur, Jose E.
dc.date.accessioned 2012-10-09T07:44:30Z
dc.date.available 2012-10-09T07:44:30Z
dc.date.issued 2011
dc.identifier.citation McHugh, D.M.S. et al. 2011. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genetics in medicine, 13(3):230-254. [http://www.nature.com/gim/index.html] en_US
dc.identifier.issn 1098-3600
dc.identifier.issn 1530-0366 (Online)
dc.identifier.uri http://hdl.handle.net/10394/7457
dc.description Official journal of the American College of Medical Genetics and Genomics en_US
dc.description.abstract 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. en_US
dc.description.uri http://dx.doi.org/10.1097/GIM.0b013e31820d5e67
dc.language.iso en en_US
dc.publisher Nature Publishing Group en_US
dc.subject Acylarnitines en_US
dc.subject amino acids en_US
dc.subject inborn errors of metabolism en_US
dc.subject newborn screening en_US
dc.subject tandem mass spectrometry en_US
dc.title Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project en_US
dc.type Article en_US


Files in this item

This item appears in the following Collection(s)

Show simple item record

Search the NWU Repository


Advanced Search

Browse

My Account

Statistics