A total of 117 newborn screening cards were anonymously selected for cystic fibrosis (CF) screening, searching for the deltaF508 mutation using polymerase chain reaction (PCR) followed by polyacrylamide gel electrophoresis (Page) and by quantification of Immunoreactive trypsin (IRT, Delfia). In 116 newborns an IRT concentration lower than 140ng/ml was evidenced. One of these was a deltaF508 heterozygote with an IRT concentration of 4,44ng/ml. One newborn was a non-deltaF508 homozygote with an IRT concentration of 410,7ng/ml. The IRT concentration average was significantly different if the newborn with the abnormal IRT was included or excluded from the population sample (n = 117, means = 8.207 ± 38.101; n = 116, means = 4.737 ± 6.597, respectively). Another sample of 8 newborns previously screened by IRT test and with elevated IRT levels was analyzed for deltaF508 mutation. The deltaF508 mutation was found in one or both chromosomes in five newborns, corresponding to 62.25% of the sample. Results obtained with two-tier IRT/DNA analysis showed that the approach only will be effective if: a) factors leading to false positives and false negatives are excluded; and b) molecular analysis of other mutations are included among those children with undefined results.
Cystic fibrosis; DF508 mutation; Immunoreactive tripsin; Newborn screening
