Impact of second-tier testing on the effectiveness of newborn screening

In one study, MS/MS analysis of newborn spot samples of dried blood collected ≤24 h after birth was compared with fluorometric analysis of the same samples. Because of this early time of collection, the decision level for an increased phenylalanine concentration was lowered by the public health labo...

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Veröffentlicht in:Clinical chemistry (Baltimore, Md.) Md.), 2010-11, Vol.56 (11), p.1653-1655
Hauptverfasser: Chace, Donald H, Hannon, W Harry
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Hannon, W Harry
description In one study, MS/MS analysis of newborn spot samples of dried blood collected ≤24 h after birth was compared with fluorometric analysis of the same samples. Because of this early time of collection, the decision level for an increased phenylalanine concentration was lowered by the public health laboratory using fluorometry to ensure that no infants with phenylketonuria were missed. [...] the primary screening of congenital adrenal hyperplasia is done with less selective methods, with a larger capture of presumptive positive cases being followed by a second-tier analysis.
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source MEDLINE; Oxford University Press Journals All Titles (1996-Current)
subjects Algorithms
Biomarkers
Biomarkers - blood
Blood Specimen Collection
Disease
False Positive Reactions
Fluorometry
Humans
Infant
Infant, Newborn
Laboratories
Mass spectrometry
Medical screening
Metabolic disorders
Metabolism, Inborn Errors - blood
Metabolism, Inborn Errors - diagnosis
Metabolites
Methods
Neonatal Screening - methods
Newborn babies
Public health
Reference Values
Reporting requirements
Sensitivity and Specificity
Tandem Mass Spectrometry
title Impact of second-tier testing on the effectiveness of newborn screening
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