2008
DOI: 10.1590/s0021-75572008000500012
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Triagem neonatal: o que os pediatras deveriam saber

Abstract: Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Summary of the findings:Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screen… Show more

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Cited by 38 publications
(34 citation statements)
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“…This examination enables the early diagnosis and treatment of the patients with these diseases, in order to avoid damage to the child, such as intellectual disabilities 1 2 , 3 For the Guthrie test a few drops of blood are taken from the heel of the newborn (NB), and collected on filter paper. The correct period for the sample collection should not be less than 48 hours of protein feeding and should not exceed 30 days from birth; however, the ideal period would be between the third and seventh day of birth in newborns 2 …”
Section: Introductionmentioning
confidence: 99%
“…This examination enables the early diagnosis and treatment of the patients with these diseases, in order to avoid damage to the child, such as intellectual disabilities 1 2 , 3 For the Guthrie test a few drops of blood are taken from the heel of the newborn (NB), and collected on filter paper. The correct period for the sample collection should not be less than 48 hours of protein feeding and should not exceed 30 days from birth; however, the ideal period would be between the third and seventh day of birth in newborns 2 …”
Section: Introductionmentioning
confidence: 99%
“…A triagem neonatal permite rastrear indivíduos com probabilidade de apresentar determinadas patologias metabólicas, hematológicas, infecciosas e genéticas, e, com isso, realizar o diagnóstico em estágio precoce, na fase assintomática do período neonatal, instituindo o tratamento específico para minimizar ou eliminar as sequelas decorrentes (1) . A Organização Mundial de Saúde (OMS), na década de 1960, preconizava a adoção de programas para a triagem neonatal (TN) nos países em desenvolvimento.…”
Section: Introductionunclassified
“…O momento para a coleta, de preferência, não deve ser inferior a 48 horas de alimentação protéica (amamentação) e nunca superior a 30 dias, sendo o ideal entre o 3º e o 7º dia de vida (2) . A detecção precoce, ainda no período neonatal, permite intervir no curso natural da doença, promovendo em possíveis casos o tratamento ou evitando sequelas mais graves (1) . O PNTN foi instituído para a prevenção de doenças incuráveis, porém, que apresentam um bom prognóstico se diagnosticadas e tratadas desde o período neonatal.…”
Section: Introductionunclassified
“…Essas doenças não possuem cura, mas exibem um bom prognóstico se tratadas desde o período neonatal. Vale destacar que a TN é o maior programa de saúde pública ligada à genética no Brasil e constitui uma estratégia de prevenção, principalmente, da deficiência intelectual (LEÃO; AGUIAR, 2008).…”
Section: Introductionunclassified