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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

2018-06-29Journal article Open access
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dc.contributor.authorMarcão, Ana
dc.contributor.authorBarreto, Celeste
dc.contributor.authorPereira, Luísa
dc.contributor.authorVaz, Luísa
dc.contributor.authorCavaco, José
dc.contributor.authorCasimiro, Ana
dc.contributor.authorFélix, Miguel
dc.contributor.authorSilva, Teresa
dc.contributor.authorBarbosa, Telma
dc.contributor.authorFreitas, Cristina
dc.contributor.authorNunes, Sidónia
dc.contributor.authorFelício, Verónica
dc.contributor.authorLopes, Lurdes
dc.contributor.authorAmaral, Margarida
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2019-02-19T15:55:32Z
dc.date.available2019-02-19T15:55:32Z
dc.date.issued2018-06-29
dc.description.abstractNewborn 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.pt_PT
dc.description.sponsorshipNBS 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).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInt. J. Neonatal Screen. 2018 Jun 29;4(3):22. Doi: 10.3390/ijns4030022pt_PT
dc.identifier.doi10.3390/ijns4030022pt_PT
dc.identifier.issn2409-515X
dc.identifier.urihttp://hdl.handle.net/10400.18/5898
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationCHARACTERIZATION OF RNA DYSFUNCTIONAL MECHANISMS ASSOCIATED WITH THE GENETIC DISEASE CYSTIC FIBROSIS
dc.relation.publisherversionhttps://www.mdpi.com/2409-515X/4/3/22pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectNewborn Screeningpt_PT
dc.subjectCystic Fibrosispt_PT
dc.subjectGenetic Epidemiologypt_PT
dc.subjectPortugalpt_PT
dc.subjectIRTpt_PT
dc.subjectPAPpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studiespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleCHARACTERIZATION OF RNA DYSFUNCTIONAL MECHANISMS ASSOCIATED WITH THE GENETIC DISEASE CYSTIC FIBROSIS
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04046%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F87478%2F2012/PT
oaire.citation.issue3pt_PT
oaire.citation.startPage22pt_PT
oaire.citation.titleInternational Journal of Neonatal Screeningpt_PT
oaire.citation.volume4pt_PT
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationdc84f768-e6f2-4eea-b294-6c8ebbd1a156
relation.isProjectOfPublicationb44d0525-a773-4ce0-b3d5-fe88046c1c1d
relation.isProjectOfPublication.latestForDiscoverydc84f768-e6f2-4eea-b294-6c8ebbd1a156

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