Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , |
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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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 |
_version_ |
1816705365830533121 |