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European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

2022-11-10Journal article Restricted access
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dc.contributor.authorMunck, Anne
dc.contributor.authorBerger, Daria O.
dc.contributor.authorSouthern, Kevin W.
dc.contributor.authorCarducci, Carla
dc.contributor.authorde Winter-de Groot, Karin M.
dc.contributor.authorGartner, Silvia
dc.contributor.authorKashirskaya, Nataliya
dc.contributor.authorLinnane, Barry
dc.contributor.authorProesmans, Marijke
dc.contributor.authorSands, Dorota
dc.contributor.authorSommerburg, Olaf
dc.contributor.authorCastellani, Carlo
dc.contributor.authorBarben, Jürg
dc.contributor.authorRenner, Sabine
dc.contributor.authorZeyda, Max
dc.contributor.authorde Wachter, Elke
dc.contributor.authorRegal, Luc
dc.contributor.authorVotava, Felix
dc.contributor.authorHolubova, Andrea
dc.contributor.authorSkov, Marianne
dc.contributor.authorMorgan, Tessa
dc.contributor.authorBregeaut, Paul
dc.contributor.authorO'Grady, Loretta
dc.contributor.authorBucci, Ines
dc.contributor.authorPantano, Stefano
dc.contributor.authorSimonetti, Simonetta
dc.contributor.authorDe Venuto, Domenica
dc.contributor.authorSalvatore, Donatello
dc.contributor.authorPerrotti, Nicola
dc.contributor.authorCaloiero, Mimma
dc.contributor.authorCastaldo, Giuseppe
dc.contributor.authorTosco, Antonella
dc.contributor.authorRighetti, Francesca
dc.contributor.authorPisi, Giovanna
dc.contributor.authorBattistini, Fiorella
dc.contributor.authorAngeloni, Antonio
dc.contributor.authorCimino, Giuseppe
dc.contributor.authorFiocchi, Giovanni
dc.contributor.authorAngiolillo, Antonella
dc.contributor.authorCassanello, Michela
dc.contributor.authorAlberti, Luisella
dc.contributor.authorClaut, Laura E
dc.contributor.authorBadolato, Raffaele
dc.contributor.authorPavanello, Enza
dc.contributor.authorFabrizzi, Benedetta
dc.contributor.authorBignamini, Elisabetta
dc.contributor.authorCardillo, Anna
dc.contributor.authorLombardo, Mariangela
dc.contributor.authorCocciadiferro, Letizia
dc.contributor.authorTermini, Lisa
dc.contributor.authorDolce, Daniela
dc.contributor.authorTerlizzi, Vito
dc.contributor.authorTamanini, Anna
dc.contributor.authorPauro, Francesca
dc.contributor.authorla Marca, Giancarlo
dc.contributor.authorAleksejeva, Elina
dc.contributor.authorGaidule-Logina, Dita
dc.contributor.authorFustik, Stoika
dc.contributor.authorAnastasovska, Violeta
dc.contributor.authorBouva, Marelle
dc.contributor.authorReid, Alastair
dc.contributor.authorCundick, Jennifer
dc.contributor.authorLundman, Emma
dc.contributor.authorBakkeheim, Egil
dc.contributor.authorZybert, Katarzyna
dc.contributor.authorOltarzewski, Mariusz
dc.contributor.authorVilarinho, Laura
dc.contributor.authorSherman, Victoria
dc.contributor.authorKondratyeva, Elena
dc.contributor.authorSmith, Sarah
dc.contributor.authorDautovic, Gordana Vilotijevic
dc.contributor.authorKnapkova, Maria
dc.contributor.authorMydlova, Zuzana
dc.contributor.authorLópez, Rosa M.
dc.contributor.authorVelasco, Valle
dc.contributor.authorFlores, Felicitas Díaz
dc.contributor.authorMejeras, Cristóbal Colón
dc.contributor.authorPedersen, Eva S.L.
dc.contributor.authorOzcelik, Ugur
dc.contributor.authorKaradag, Bulent
dc.contributor.authorMakukh, Halyna
dc.contributor.authorStuart, Moat
dc.date.accessioned2023-03-21T14:22:59Z
dc.date.available2023-03-21T14:22:59Z
dc.date.issued2022-11-10
dc.descriptionEuropean CF Society Neonatal Screening Working Group (ECFS NSWG): Sabine Renner , Max Zeyda , Elke de Wachter , Luc Regal , Felix Votava, Andrea Holubova, Marianne Skov , Tessa Morgan, Paul Bregeaut , Loretta O'Grady, Ines Bucci , Stefano Pantano , Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, Fiorella Battistini, Antonio Angeloni, Giuseppe Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura E Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elina Aleksejeva, Dita Gaidule-Logina, Stoika Fustik, Violeta Anastasovska, Marelle Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, Katarzyna Zybert, Mariusz Oltarzewski, Laura Vilarinho, Victoria Sherman, Elena Kondratyeva, Sarah Smith, Gordana Vilotijevic Dautovic, Maria Knapkova, Zuzana Mydlova, Rosa Mª López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva Sl Pedersen, Ugur Ozcelik, Bulent Karadag, Halyna Makukh, Moat Stuart.pt_PT
dc.descriptionEuropean CF Society Neonatal Screening Working Group (ECFS NSWG): INSA - Laura Vilarinho
dc.description.abstractBackground: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance. Methods: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise. Results: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis. Conclusions: Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of increased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably.pt_PT
dc.description.abstractHighlights: In 2022, newborn bloodspot screening (NBS) for CF is undertaken in 30 European countries, 26 of them are national programmes; Some programmes are still not achieving ECFS standards. Compared to 2014, there is an improvement in sensitivity but a deterioration in achieving a sufficient PPV; There continues to be a wide variety of approaches, but the majority of national programmes are now using DNA analysis as a 2nd tier; This survey demonstrates areas of good practice, but there is considerable scope for improvement in the quality of NBS for CF across Europe; The framework of the 20 parameters to calculate the 8 key outcomes should be part of any annual report of a CF NBS programme, and thus improve future surveys.pt_PT
dc.description.sponsorshipThe survey was funded by the European CF Societypt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Cyst Fibros. 2022 Nov 10;S1569-1993(22)00689-0. doi: 10.1016/j.jcf.2022.09.012. Online ahead of print.pt_PT
dc.identifier.doi10.1016/j.jcf.2022.09.012pt_PT
dc.identifier.issn1569-1993
dc.identifier.urihttp://hdl.handle.net/10400.18/8589
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier/ European Cystic Fibrosis Societypt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S1569199322006890?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectCFSPID, Carrierspt_PT
dc.subjectCFTR Gene Analysispt_PT
dc.subjectCystic Fibrosispt_PT
dc.subjectIRTpt_PT
dc.subjectNewborn Bloodspot Screeningpt_PT
dc.subjectPAPpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleEuropean survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performancept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleJournal of Cystic Fibrosispt_PT
oaire.citation.volumeS1569-1993(22)00689-0pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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