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Type: Artigo
Title: Neonatal screening for cystic fibrosis in São Paulo State, Brazil : a pilot study
Author: Rodrigues, R.
Magalhaes, P.K.R.
Fernandes, M.I.M.
Gabetta, C.S.
Ribeiro, A.F.
Pedro, K.P.
Valdetaro, F.
Santos, J.L.F.
Souza, R.M. de
Pazin Filho, A.
Maciel, L.M.Z.
Abstract: 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
Subject: Fibrose cística
Triagem neonatal
Country: Brasil
Editor: Associação Brasileira de Divulgação Científica
Rights: Aberto
Identifier DOI: 10.1590/S0100-879X2009005000017
Date Issue: 2009
Appears in Collections:FCM - Artigos e Outros Documentos

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