Neonatal screening for the cystic fibrosis main mutation ΔF508 in Estonia

Abstract

In this pilot study the frequency of F508 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 F508 mutation and 88 were found to carry this deletion. The mean frequency of F508 mutation carriers in Estonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies diVered 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).

Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia

“…In our previous report, the incidence of CF was estimated to be about 1 in 4500 live births in Estonia 5. The present study was undertaken to identify the whole spectrum of CFTR gene mutations in Estonian patients.…”

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

“…Nevertheless, several pilot screening initiatives have been performed. [2][3][4][5][6][7][8][9] Most of these were based on analysis of only the most common CFTR mutation ( F508), 2 9 but a few included additional mutations. [6][7][8] In the latter, the major problem was the large number of mutated alleles that remained undetected by conventional genetic tests.…”