NEONATAL SCREENING FOR THE CYSTIC-FIBROSIS MAIN MUTATION DELTA-F508 IN ESTONIA

In this pilot study the frequency of Delta F508 mutation carriers, the ir geographic distribution, and the prevalence of cystic fibrosis (CF) in Estonia were investigated. During the screening programme 7396 new borns were tested for Delta F508 mutation and 88 were found to carry t his deletion. The mean frequency of Delta F508 mutation carriers in Es tonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies differed significan tly (p=0.0369), with the highest incidence (1:36) on the Baltic Sea is lands and western coastal region and with the lowest in south eastern parts of Estonia (1:129).