Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

Detalhes bibliográficos
Autor(a) principal: Botler, Judy
Data de Publicação: 2012
Outros Autores: Camacho, Luiz Antonio Bastos, Cruz, Marly Marques da
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/4930
Resumo: In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.
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spelling Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening programNeonatal ScreeningPhenylketonuriasCongenital HypothyroidismHemoglobinopathiesIn this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.Neste estudo, foi analisada a frequência de detecção do hipotireoidismo congênito, fenilcetonúria e hemoglobinopatias no Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, entre 2005 e 2007. Havia dois Serviços de Referência em Triagem Neonatal (designados SRTN A e B) com diferenças programáticas. Em 2007, a cobertura alcançou 80,7%. O aumento na incidência do hipotireoidismo congênito (1:1.030 em 2007) foi atribuído à redução no valor de corte do TSH ao longo do tempo. As incidências discrepantes da fenilcetonúria entre os modelos (SRTN A - 1:28.427; SR-TN B - 1:16.522) podem ser parcialmente explicadas pelo pequeno número de casos. A incidência da doença falciforme e do traço falcêmico foi uniformemente elevada (1:1.288 e 1:21, respectivamente), sendo coerente com a composição étnica da população. As diferenças nos métodos laboratoriais e valores críticos, além de outras questões programáticas, podem explicar a variabilidade nos resultados e limitar a análise do papel dos determinantes biológicos e ambientais sobre a ocorrência das doenças.Reports in Public HealthCadernos de Saúde Pública2012-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlapplication/pdfhttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/4930Reports in Public Health; Vol. 28 No. 9 (2012): SeptemberCadernos de Saúde Pública; v. 28 n. 9 (2012): Setembro1678-44640102-311Xreponame:Cadernos de Saúde Públicainstname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZenghttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/4930/10075https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/4930/10076Botler, JudyCamacho, Luiz Antonio BastosCruz, Marly Marques dainfo:eu-repo/semantics/openAccess2024-03-06T15:28:27Zoai:ojs.teste-cadernos.ensp.fiocruz.br:article/4930Revistahttps://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:2024-03-06T13:05:40.857754Cadernos de Saúde Pública - Fundação Oswaldo Cruz (FIOCRUZ)true
dc.title.none.fl_str_mv Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
title Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
spellingShingle Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
Botler, Judy
Neonatal Screening
Phenylketonurias
Congenital Hypothyroidism
Hemoglobinopathies
title_short Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
title_full Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
title_fullStr Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
title_full_unstemmed Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
title_sort Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
author Botler, Judy
author_facet Botler, Judy
Camacho, Luiz Antonio Bastos
Cruz, Marly Marques da
author_role author
author2 Camacho, Luiz Antonio Bastos
Cruz, Marly Marques da
author2_role author
author
dc.contributor.author.fl_str_mv Botler, Judy
Camacho, Luiz Antonio Bastos
Cruz, Marly Marques da
dc.subject.por.fl_str_mv Neonatal Screening
Phenylketonurias
Congenital Hypothyroidism
Hemoglobinopathies
topic Neonatal Screening
Phenylketonurias
Congenital Hypothyroidism
Hemoglobinopathies
description In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.
publishDate 2012
dc.date.none.fl_str_mv 2012-09-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/4930
url https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/4930
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/4930/10075
https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/4930/10076
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. 28 No. 9 (2012): September
Cadernos de Saúde Pública; v. 28 n. 9 (2012): Setembro
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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