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| 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.. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cystic fibrosis; Neonatal screening; Immunoreactive trypsinogen test; Brazil. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001000017 |
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