Abstract
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.
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Acknowledgements
The authors thank the Réseau Mucoviscidose Bretagne et Pays de Loire and the following medical practitioners for supplying data on the outcome of pregnancies: Prof. Collet, Mme Corolleur and Drs. Aussel, Borg, Bwang, Cariou, Castric, Chabaud, Charrier, Collet, Conan, Corolleur, Dagorne, Darnaud, De Morel, Devins, D'Hervé, Donnart, Emorine, Franck, Gadonna, Gayet, Germain, Jacques, Jauffroy, Journel, Laurent, Le Duff, Le Fiblec, Le Goff, Le Guern, Le Marec, Le Vaillant, Milon, Moquet, Munck, Odent, Ommi-Bié, Paillereau, Palaric, Parent, Pierrot, Poulain, Quiniou, Redon, Riou, Rivoallan, Rubir, Sévène, Thépôt, Tillaut, Touffet, Turban, Van Walleghem, Vibyral and Zemb. This work was supported by the Association de Transfusion Sanguine et de Biogénétique Gaetan Saleun.
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Scotet, V., Audrézet, MP., Roussey, M. et al. Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France. Hum Genet 113, 280–285 (2003). https://doi.org/10.1007/s00439-003-0962-0
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DOI: https://doi.org/10.1007/s00439-003-0962-0