Literature DB >> 18822253

[The French nationwide cystic fibrosis newborn screening program: strategy and results].

A Munck1, M Roussey.   

Abstract

In 2002 France implemented a nationwide newborn screening program for cystic fibrosis (CF). The strategy combined immunoreactive trypsinogen and, in case of a value over the cut-off level, DNA analysis in dried blood samples at day 3. Data were centralized and periodically analyzed thus maintaining the percentage of samples requiring mutation analysis (0.6%), limiting the number of false-positive cases (0.1%) without increasing the number of false-negative cases (3.2%). 3.527.353 infants were screened between 2002 and 2006. The overall cystic fibrosis incidence was 1/ 4136 with a wide range of regional variations. Dilemma case presentation occurred for 14 % of the patients; an European working group is actively working on this topic, attempting to establish a consensus on the adequate procedures. Cystic fibrosis newborn screening is feasible all over a nation but needs a strong organization from maternity wards to CF care centers.

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Year:  2008        PMID: 18822253     DOI: 10.1016/S0929-693X(08)73940-X

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  1 in total

1.  Sweat test practice in pediatric pulmonology after introduction of cystic fibrosis newborn screening.

Authors:  Céline Grimaldi; François Brémont; Michèle Berlioz-Baudoin; Jacques Brouard; Harriet Corvol; Laure Couderc; Guillaume Lezmi; Isabelle Pin; Isabelle Petit; Philippe Reix; Natacha Remus; Cyril Schweitzer; Caroline Thumerelle; Jean-Christophe Dubus
Journal:  Eur J Pediatr       Date:  2015-06-16       Impact factor: 3.183

  1 in total

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