Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

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.

Assessing the Disease-Liability of Mutations in CFTR

“…For example, in Brittany, an 18-year experience of prenatal diagnosis of CF was recently reported, and although the life expectancy of patients with CF has considerably improved, the great majority of couples chose pregnancy termination when PD indicated that the fetus had CF (95.9%) (Scotet et al 2003a(Scotet et al , 2008. The situation is similar in Australia where Sawyer et al (2006) ana-lyzed the reproductive attitudes of a cohort of parents with a CF child and 82% of those couples declared they would use PD in a subsequent pregnancy.…”

Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests

“…24 Effects of public health measures on the frequencies of the various CFTR disease alleles need to be investigated, because they will impact risk assessments for CF considerably.…”

Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)

“…All CF-affected children went through genetic testing; the CFTR mutations were identified on more than 98% of CF chromosomes (Fe´rec et al 1992). During the period 1992-2001, 122 PDs were performed among parents with a CF child (Scotet et al 2003). They led to the identification of 33 CF affected fetuses, of whom 31 were aborted.…”