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Open Access 01-12-2012 | Research

Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France

Authors: Virginie Scotet, Ingrid Duguépéroux, Philippe Saliou, Gilles Rault, Michel Roussey, Marie-Pierre Audrézet, Claude Férec

Published in: Orphanet Journal of Rare Diseases | Issue 1/2012

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 1^st 1975 and December 31^st 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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Title: Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France
Authors: Virginie Scotet
Ingrid Duguépéroux
Philippe Saliou
Gilles Rault
Michel Roussey
Marie-Pierre Audrézet
Claude Férec
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2012
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-7-14

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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