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Article

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.

Journal of medical screening - 1 Jan 2011

Oerton Juliet, Khalid Javaria M, Besley Guy, Dalton R Neil, Downing Melanie, Green Anne, Henderson Mick, Krywawych Steve, Leonard James, Andresen Brage S, Dezateux Carol

Abstract excerpt

BACKGROUND: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, life-threatening condition. Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain. OBJECTIVE: To estimate, overall and by ethnic group: screen-positive prevalence and predictive value (PPV); MCADD prevalence; proportion MCADD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22166308
DOI: 10.1258/jms.2011.011086
PMCID: PMC3243649

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