The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

Detalhes bibliográficos
Autor(a) principal: Léa Maria Zanini Maciel
Data de Publicação: 2020
Outros Autores: Patrícia Künzle Ribeiro Magalhães, Ieda Regina Lopes Del Ciampo, Maria Luísa Barato de Sousa, Maria Inez Machado Fernandes, Regina Sawamura, Roberta Rodrigues Bittar, Greice Andreotti de Molfetta, Wilson Araújo da Silva Júnior
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Cadernos de Saúde Pública
Texto Completo: https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348
Resumo: The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.
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spelling The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, BrazilCystic FibrosisNeonatal ScreeningTrypsinogenThe Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.El Hospital das Clínicas de la Facultad de Medicina de Ribeirão Preto, São Paulo Universidad es uno de los tres centros de cribado de fibrosis cística (FC) en el estado de São Paulo, incluyendo este test desde el 6 de febrero de 2010, debido a una medida cautelar judicial. El estudio evalúa los primeros cinco años de este programa de cribado neonatal de FC. Brasil adopta el protocolo de cribado original, con el tripsinógeno inmunorreactivo (TIR)/IRT. Se cribaron un total de 173.571 recién nacidos, de los cuales 1.922 (1,1%) mostraron IRT ≥ 70ng/mL. De estos, se obtuvieron 1.795 (93,4%) muestras recogidas para IRT2, con resultados elevados (IRT2 ≥ 70ng/mL) en 102 de ellos (5,2%). Identificamos un total de 26 casos de FC durante ese período, inclusive 3 casos de FC que no fueron detectados con el cribado neonatal. La incidencia de la FC fue de 1 caso por cada 6.675 recién-nacidos cribados. La edad media en la evaluación inicial fue 42 días, comparable a la edad de recién nacidos cribados con el protocolo IRT/DNA. Casi todos los lactantes con FC ya manifestaban algunos síntomas de la enfermedad durante el período neonatal. La mutación más común en los casos de FC era el F508del. Los resultados en nuestro centro indican que la edad precoz en el inicio del tratamiento se debía a los esfuerzos del programa en la implementación de una búsqueda activa eficaz. Considerando los resultados falsos-negativos en el programa de cribado neonatal para FC, y el inicio precoz de las manifestaciones clínicas de la enfermedad en este estudio, los pediatras deben ser conscientes de la posibilidad de diagnóstico de FC, incluso en niños con test negativo.O Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo é um dos três centros de triagem da fibrose cística (FC) no estado de São Paulo, tendo incluído esse teste desde 6 de fevereiro de 2010, a partir de uma liminar judicial. O estudo avalia os primeiros cinco anos desse programa de triagem neonatal da FC. O Brasil adota o protocolo de triagem original, com o tripsinogênio imunorreativo (IRT)/IRT. Foram triados um total de 173.571 recém-nascidos, dos quais 1.922 (1,1%) mostraram IRT ≥ 70ng/mL. Destes, 1.795 (93,4%) tiveram amostras coletadas para IRT2, com resultados elevados (IRT2 ≥ 70ng/mL) em 102 deles (5,2%). Identificamos um total de 26 casos de FC durante esse período, inclusive 3 casos de FC que não foram detectados com a triagem neonatal. A incidência da FC foi de 1 caso em cada 6.675 recém-nascidos triados. A idade mediana na avaliação inicial foi 42 dias, comparável à idade de recém-nascidos triados com o protocolo IRT/DNA. Quase todos os lactentes com FC já exibiam algumas manifestações da doença durante o período neonatal. A mutação mais comum nos casos de FC foi a F508del. Os resultados em nosso centro indicam que a idade precoce no início do tratamento foi devido aos esforços do programa na implementação de uma busca ativa eficaz. Considerando os resultados falsos-negativos no programa de triagem neonatal para FC e o início precoce das manifestações clínicas da doença neste estudo, os pediatras devem estar cientes da possibilidade de diagnóstico de FC, mesmo em crianças com teste negativo.Reports in Public HealthCadernos de Saúde Pública2020-10-26info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlapplication/pdfhttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348Reports in Public Health; Vol. 36 No. 10 (2020): OctoberCadernos de Saúde Pública; v. 36 n. 10 (2020): Outubro1678-44640102-311Xreponame:Cadernos de Saúde Públicainstname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZenghttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348/16166https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348/16167Léa Maria Zanini MacielPatrícia Künzle Ribeiro MagalhãesIeda Regina Lopes Del CiampoMaria Luísa Barato de SousaMaria Inez Machado FernandesRegina SawamuraRoberta Rodrigues BittarGreice Andreotti de MolfettaWilson Araújo da Silva Júniorinfo:eu-repo/semantics/openAccess2024-03-06T15:29:53Zoai:ojs.teste-cadernos.ensp.fiocruz.br:article/7348Revistahttps://cadernos.ensp.fiocruz.br/ojs/index.php/csphttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/oaicadernos@ensp.fiocruz.br||cadernos@ensp.fiocruz.br1678-44640102-311Xopendoar:2024-03-06T13:08:26.752807Cadernos de Saúde Pública - Fundação Oswaldo Cruz (FIOCRUZ)true
dc.title.none.fl_str_mv The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
title The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
spellingShingle The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
Léa Maria Zanini Maciel
Cystic Fibrosis
Neonatal Screening
Trypsinogen
title_short The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
title_full The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
title_fullStr The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
title_full_unstemmed The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
title_sort The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil
author Léa Maria Zanini Maciel
author_facet Léa Maria Zanini Maciel
Patrícia Künzle Ribeiro Magalhães
Ieda Regina Lopes Del Ciampo
Maria Luísa Barato de Sousa
Maria Inez Machado Fernandes
Regina Sawamura
Roberta Rodrigues Bittar
Greice Andreotti de Molfetta
Wilson Araújo da Silva Júnior
author_role author
author2 Patrícia Künzle Ribeiro Magalhães
Ieda Regina Lopes Del Ciampo
Maria Luísa Barato de Sousa
Maria Inez Machado Fernandes
Regina Sawamura
Roberta Rodrigues Bittar
Greice Andreotti de Molfetta
Wilson Araújo da Silva Júnior
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Léa Maria Zanini Maciel
Patrícia Künzle Ribeiro Magalhães
Ieda Regina Lopes Del Ciampo
Maria Luísa Barato de Sousa
Maria Inez Machado Fernandes
Regina Sawamura
Roberta Rodrigues Bittar
Greice Andreotti de Molfetta
Wilson Araújo da Silva Júnior
dc.subject.por.fl_str_mv Cystic Fibrosis
Neonatal Screening
Trypsinogen
topic Cystic Fibrosis
Neonatal Screening
Trypsinogen
description The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.
publishDate 2020
dc.date.none.fl_str_mv 2020-10-26
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dc.identifier.uri.fl_str_mv https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348
url https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348/16166
https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/7348/16167
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
application/pdf
dc.publisher.none.fl_str_mv Reports in Public Health
Cadernos de Saúde Pública
publisher.none.fl_str_mv Reports in Public Health
Cadernos de Saúde Pública
dc.source.none.fl_str_mv Reports in Public Health; Vol. 36 No. 10 (2020): October
Cadernos de Saúde Pública; v. 36 n. 10 (2020): Outubro
1678-4464
0102-311X
reponame:Cadernos de Saúde Pública
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Cadernos de Saúde Pública
collection Cadernos de Saúde Pública
repository.name.fl_str_mv Cadernos de Saúde Pública - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv cadernos@ensp.fiocruz.br||cadernos@ensp.fiocruz.br
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