en
Scientific article
French

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

Published inRevue médicale suisse, vol. 7, no. 283, p. 456,458-460
Publication date2011
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 & control
  • DNA Mutational Analysis
  • Humans
  • Infant, Newborn
  • Neonatal Screening
  • Predictive Value of Tests
  • Sensitivity and Specificity
  • Switzerland
  • Trypsinogen/blood
Citation (ISO format)
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. 456,458–460.
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Article (Published version)
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Identifiers
ISSN of the journal1660-9379
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