Neonatal screening for the cystic fibrosis main mutation ΔF508 in Estonia

Abstract

In this pilot study the frequency of ΔF508 mutation carriers, their geographic distribution, and the prevalence of cystic fibrosis (CF) in Estonia were investigated. During the screening programme 7396 newborns were tested for ΔF508 mutation and 88 were found to carry this deletion. The mean frequency of ΔF508 mutation carriers in Estonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies differed significantly (p=0.0369), with the highest incidence (1:36) on the Baltic Sea islands and western coastal region and with the lowest in south eastern parts of Estonia (1:129).