Neonatal screening for cystic fibrosis in São Paulo State, Brazil: a pilot study
| Autor: | R. Rodrigues, P.K.R. Magalhaes, M.I.M. Fernandes, C.S. Gabetta, A.F. Ribeiro, K.P. Pedro, F. Valdetaro, J.L.F. Santos, R.M. de Souza, A. Pazin Filho, L.M.Z. Maciel |
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| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: | |
| Zdroj: | Brazilian Journal of Medical and Biological Research, Vol 42, Iss 10, Pp 973-978 (2009) |
| Druh dokumentu: | article |
| ISSN: | 0100-879X 1414-431X |
| Popis: | Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian population, with an incidence of 1:2000 to 1:3500 liveborns. More than 1000 mutations have been described with the most common being F508del. It has a prevalence of 23-55% within the Brazilian population. The lack of population-based studies evaluating the incidence of cystic fibrosis in São Paulo State, Brazil, and an analysis concerning the costs of implantation of a screening program motivated the present study. A total of 60,000 dried blood samples from Guthrie cards obtained from April 2005 to January 2006 for neonatal screening at 4 reference centers in São Paulo State were analyzed. The immunoreactive trypsinogen (IRT)/IRT protocol was used with the cut-off value being 70 ng/mL. A total of 532 children (0.9%) showed IRT >70 ng/mL and a 2nd sample was collected from 418 (80.3%) of these patients. Four affected children were detected at two centers, corresponding to an incidence of 1:8403. The average age at diagnosis was 69 days, and 3 of the children already showed severe symptoms of the disease. The rate of false-positive results was 95.2% and the positive predictive value for the test was 8%. The cost of detecting an affected subject was approximately US$8,000.00 when this cystic fibrosis program was added to an existing neonatal screening program. The present study clearly shows the difficulties involved in cystic fibrosis screening using the IRT/IRT protocol, particularly in a population with no long-term tradition of neonatal screening. |
| Databáze: | Directory of Open Access Journals |
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