Document Detail

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.
MedLine Citation:
PMID:  12768409     Owner:  NLM     Status:  MEDLINE    
Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14 years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region (neonatal screening, prenatal diagnosis, ultrasound examination and family testing). This study used the results of the neonatal screening program, which enabled a precise measure of the prevalence of CF at birth to be obtained. Over the same period, we collected data from prenatal diagnoses carried out in the region, first in families related to a CF child and also those made following the detection of an echogenic bowel upon routine ultrasound examination performed during pregnancy. The prevalence of CF at birth was estimated to be 1/2838 in the region over a 10-year period (1992-2001). By including the 54 CF-affected pregnancies that were terminated during these 10 years, the corrected birth prevalence of CF was 1/1972. Prenatal diagnosis was therefore responsible for a global decrease in CF prevalence at birth of 30.5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing.
Virginie Scotet; Marie-Pierre Audrézet; Michel Roussey; Gilles Rault; Martine Blayau; Marc De Braekeleer; Claude Férec
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-05-27
Journal Detail:
Title:  Human genetics     Volume:  113     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-07-28     Completed Date:  2003-08-27     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  280-5     Citation Subset:  IM    
INSERM EMI 01-15, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Hospital, University, EFS-Bretagne, 46 Rue Félix Le Dantec, BP 454, 29275, Brest Cédex, France.
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MeSH Terms
Cystic Fibrosis / diagnosis,  epidemiology*,  genetics,  prevention & control*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
France / epidemiology
Genetic Testing
Infant, Newborn
Molecular Epidemiology*
Neonatal Screening
Prenatal Diagnosis
Public Health* / methods
Ultrasonography, Prenatal
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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