PMID: identifiant
de la référence Pubmed : |
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 (22380742)  |
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| titre : |
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Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France. |
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| auteur(s) : |
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Virginie Scotet ( ) 1, Ingrid Duguépéroux1, 2, Philippe Saliou1, 2, Gilles Rault3, Michel Roussey4, 5, Marie-Pierre Audrézet1, 2, Claude Férec1, 2 |
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| laboratoire : |
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| Équipe de recherche : |
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Lab-STICC_UBO_CACS_MOCS |
| résumé : |
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ABSTRACT: BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a better monitoring of the disease incidence, what is essential to make reliable predictions for disease management. This study assessed time trends in the birth incidence of CF over a long period (35 years: 1975-2009) in an area where CF is frequent (Brittany, France) and where NBS has been implemented for more than 20 years. METHODS: This study enrolled CF patients born in Brittany between January 1st 1975 and December 31st 2009 (n=483). Time trends in incidence were examined using Poisson regression and mainly expressed using the average percent change (APC). RESULTS: The average number of patients born each year declined from 18.6 in the late 1970's (period 1975-79) to 11.6 nowadays (period 2005-09). The corresponding incidence rates dropped from 1/1983 to 1/3268, which represented a decline close to 40% between these two periods (APC=-39.3%, 95% CI=-55.8% to -16.7%, p=0.0020). A clear breakpoint in incidence rate was observed at the end of the 1980's (p<0.0001). However, the incidence rate has remained quite stable since that time (annual APC=-1.0%, 95% CI=-3.0% to 1.1%, p=0.3516). CONCLUSIONS: This study provides an accurate picture of the evolution of the incidence of a genetic disease over a long period and highlights how it is influenced by the health policies implemented. We observed a 40% drop in incidence in our area which seems consecutive to the availability of prenatal diagnosis. |
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| domaine : |
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Sciences du Vivant/Génétique
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langue du texte
intégral : |
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Anglais |
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| ISSN : |
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1750-1172 |
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| type de publication : |
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Articles dans des revues avec comité de lecture |
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| DOI : |
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10.1186/1750-1172-7-14 |
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| journal : |
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| Orphanet Journal of Rare Diseases |
| Publisher |
BioMed Central |
| ISSN |
1750-1172 |
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| Audience : |
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internationale |
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| date de publication : |
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01/03/2012 |
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date de publication
électronique : |
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01/03/2012 |
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| volume : |
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7 |
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| numéro : |
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1 |
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| page, identifiant, ... : |
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14 |
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| mots-clés auteur : |
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Cystic fibrosis – Incidence – Time trends – Newborn screening – Pregnancy ultrasound examination |
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| contrat, financement : |
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This study was supported by a grant from the French Ministry of Health (PHRC 2007). |
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