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Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011

Barben, Jürg
Hafen, Gaudenz
Published in Revue médicale suisse. 2011, vol. 7, no. 283, p. 456,458-60
Abstract The diagnosis of cystic fibrosis (CF) is often delayed because of the nonspecificity of a wide variety of clinical symptoms at disease onset. Newborn screening for CF has been advocated to reduce delays in diagnosis, facilitating preventive care for early respiratory and nutritional involvement. According to American and European consensus and experience of existing programs, a Swiss Nationwide Cystic Fibrosis Newborn Screening Program started in January 2011. Screening strategy combines two steps: an immunoreactive trypsinogen assay and DNA mutation analysis in dried blood samples at day 4 (Guthrie cards).
Keywords Cystic Fibrosis/blood/diagnosis/genetics/prevention & controlDNA Mutational AnalysisHumansInfant, NewbornNeonatal ScreeningPredictive Value of TestsSensitivity and SpecificitySwitzerlandTrypsinogen/blood
PMID: 21452515
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Other version: http://rms.medhyg.ch/numero-283-page-456.htm
Research group Facteurs influençants le développement pulmonaire: étude translationnelle chez l'animal et l'homme (182)
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MORNAND, Anne, BARBEN, Jürg, HAFEN, Gaudenz. Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011. In: Revue médicale suisse, 2011, vol. 7, n° 283, p. 456,458-60. https://archive-ouverte.unige.ch/unige:25779

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Deposited on : 2013-01-21

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