Neonatal screening for cystic fibrosis in Sao Paulo State, Brazil: a pilot study

dc.creatorRodrigues, R
dc.creatorMagalhaes, PKR
dc.creatorFernandes, MIM
dc.creatorGabetta, CS
dc.creatorRibeiro, AF
dc.creatorPedro, KP
dc.creatorValdetaro, F
dc.creatorSantos, JLF
dc.creatorde Souza, RM
dc.creatorPazin, A
dc.creatorMaciel, LMZ
dc.date2009
dc.dateOCT
dc.date2014-07-30T17:09:03Z
dc.date2015-11-26T17:45:34Z
dc.date2014-07-30T17:09:03Z
dc.date2015-11-26T17:45:34Z
dc.date.accessioned2018-03-29T00:27:56Z
dc.date.available2018-03-29T00:27:56Z
dc.identifierBrazilian Journal Of Medical And Biological Research. Assoc Bras Divulg Cientifica, v. 42, n. 10, n. 973, n. 978, 2009.
dc.identifier0100-879X
dc.identifierWOS:000270233400017
dc.identifier10.1590/S0100-879X2009005000017
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/64216
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/64216
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1288221
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionCystic 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 Sao 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 Sao 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.
dc.description42
dc.description10
dc.description973
dc.description978
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFAPESP [03/12731-8]
dc.languageen
dc.publisherAssoc Bras Divulg Cientifica
dc.publisherSao Paulo
dc.publisherBrasil
dc.relationBrazilian Journal Of Medical And Biological Research
dc.relationBrazilian J. Med. Biol. Res.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectCystic fibrosis
dc.subjectNeonatal screening
dc.subjectImmunoreactive trypsinogen test
dc.subjectBrazil
dc.subjectImmunoreactive Trypsinogen
dc.subjectNewborn
dc.subjectGene
dc.subjectIdentification
dc.subjectExperience
dc.subjectStrategies
dc.subjectWisconsin
dc.subjectMutation
dc.titleNeonatal screening for cystic fibrosis in Sao Paulo State, Brazil: a pilot study
dc.typeArtículos de revistas


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