Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/5898 |
Resumo: | Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in the Portuguese population, to determine the incidence, and to contribute to elucidating the genetic epidemiology of CF in Portugal. This was a nationwide three-year pilot study including 255,000 newborns (NB) that were also screened for congenital hypothyroidism (CH) and 24 other metabolic disorders included in the Portuguese screening program. Most samples were collected in local health centers spread all over the country, between the 3rd and 6th days of life. The algorithm tested includes immunoreactive trypsinogen (IRT) determination, pancreatitis associated protein (PAP) as a second tier, and genetic study for cases referred to specialized clinical centers. Thirty-four CF cases were confirmed positive, thus indicating an incidence of 1:7500 NB. The p.F508del mutation was found in 79% of the alleles. According to the results presented here, CF-NBS is recommended to be included in the Portuguese NBS panel with a small adjustment regarding the PAP cut-off, which we expect to contribute to the improvement of the CF-NBS performance. According to our results, this algorithm is a valuable alternative for CF-NBS in populations with stringent rules for genetic studies. |
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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic StudiesNewborn ScreeningCystic FibrosisGenetic EpidemiologyPortugalIRTPAPDoenças GenéticasNewborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in the Portuguese population, to determine the incidence, and to contribute to elucidating the genetic epidemiology of CF in Portugal. This was a nationwide three-year pilot study including 255,000 newborns (NB) that were also screened for congenital hypothyroidism (CH) and 24 other metabolic disorders included in the Portuguese screening program. Most samples were collected in local health centers spread all over the country, between the 3rd and 6th days of life. The algorithm tested includes immunoreactive trypsinogen (IRT) determination, pancreatitis associated protein (PAP) as a second tier, and genetic study for cases referred to specialized clinical centers. Thirty-four CF cases were confirmed positive, thus indicating an incidence of 1:7500 NB. The p.F508del mutation was found in 79% of the alleles. According to the results presented here, CF-NBS is recommended to be included in the Portuguese NBS panel with a small adjustment regarding the PAP cut-off, which we expect to contribute to the improvement of the CF-NBS performance. According to our results, this algorithm is a valuable alternative for CF-NBS in populations with stringent rules for genetic studies.NBS project (M11-61: “Screening, diagnosis and early treatment of Cystic Fibrosis”) was a one-year collaborative work with the Portuguese National Association of Tuberculosis and Respiratory Diseases (ANTDR) and had financial support from the Portuguese Directorate-General of Health (DGS). The last two years of this study were supported by the Portuguese National Institute of Health Ricardo Jorge. Work performed in M.A. lab is supported by UID/MULTI/04046/2013 center grant from FCT, Portugal (to BioISI). V.R. is a recipient of SFRH/BD/87478/2012 PhD fellowship from FCT (Portugal).MDPIRepositório Científico do Instituto Nacional de SaúdeMarcão, AnaBarreto, CelestePereira, LuísaVaz, LuísaCavaco, JoséCasimiro, AnaFélix, MiguelSilva, TeresaBarbosa, TelmaFreitas, CristinaNunes, SidóniaFelício, VerónicaLopes, LurdesAmaral, MargaridaVilarinho, Laura2019-02-19T15:55:32Z2018-06-292018-06-29T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/5898engInt. J. Neonatal Screen. 2018 Jun 29;4(3):22. Doi: 10.3390/ijns40300222409-515X10.3390/ijns4030022info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:02Zoai:repositorio.insa.pt:10400.18/5898Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:26.883417Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies |
title |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies |
spellingShingle |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies Marcão, Ana Newborn Screening Cystic Fibrosis Genetic Epidemiology Portugal IRT PAP Doenças Genéticas |
title_short |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies |
title_full |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies |
title_fullStr |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies |
title_full_unstemmed |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies |
title_sort |
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies |
author |
Marcão, Ana |
author_facet |
Marcão, Ana Barreto, Celeste Pereira, Luísa Vaz, Luísa Cavaco, José Casimiro, Ana Félix, Miguel Silva, Teresa Barbosa, Telma Freitas, Cristina Nunes, Sidónia Felício, Verónica Lopes, Lurdes Amaral, Margarida Vilarinho, Laura |
author_role |
author |
author2 |
Barreto, Celeste Pereira, Luísa Vaz, Luísa Cavaco, José Casimiro, Ana Félix, Miguel Silva, Teresa Barbosa, Telma Freitas, Cristina Nunes, Sidónia Felício, Verónica Lopes, Lurdes Amaral, Margarida Vilarinho, Laura |
author2_role |
author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Marcão, Ana Barreto, Celeste Pereira, Luísa Vaz, Luísa Cavaco, José Casimiro, Ana Félix, Miguel Silva, Teresa Barbosa, Telma Freitas, Cristina Nunes, Sidónia Felício, Verónica Lopes, Lurdes Amaral, Margarida Vilarinho, Laura |
dc.subject.por.fl_str_mv |
Newborn Screening Cystic Fibrosis Genetic Epidemiology Portugal IRT PAP Doenças Genéticas |
topic |
Newborn Screening Cystic Fibrosis Genetic Epidemiology Portugal IRT PAP Doenças Genéticas |
description |
Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in the Portuguese population, to determine the incidence, and to contribute to elucidating the genetic epidemiology of CF in Portugal. This was a nationwide three-year pilot study including 255,000 newborns (NB) that were also screened for congenital hypothyroidism (CH) and 24 other metabolic disorders included in the Portuguese screening program. Most samples were collected in local health centers spread all over the country, between the 3rd and 6th days of life. The algorithm tested includes immunoreactive trypsinogen (IRT) determination, pancreatitis associated protein (PAP) as a second tier, and genetic study for cases referred to specialized clinical centers. Thirty-four CF cases were confirmed positive, thus indicating an incidence of 1:7500 NB. The p.F508del mutation was found in 79% of the alleles. According to the results presented here, CF-NBS is recommended to be included in the Portuguese NBS panel with a small adjustment regarding the PAP cut-off, which we expect to contribute to the improvement of the CF-NBS performance. According to our results, this algorithm is a valuable alternative for CF-NBS in populations with stringent rules for genetic studies. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-06-29 2018-06-29T00:00:00Z 2019-02-19T15:55:32Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/5898 |
url |
http://hdl.handle.net/10400.18/5898 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Int. J. Neonatal Screen. 2018 Jun 29;4(3):22. Doi: 10.3390/ijns4030022 2409-515X 10.3390/ijns4030022 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
MDPI |
publisher.none.fl_str_mv |
MDPI |
dc.source.none.fl_str_mv |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132147020201984 |