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Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy

Cystic fibrosis (CF) is a life-threatening and common genetic disorder. Cystic fibrosis newborn screening (CF NBS) has been implemented in many countries over the last 30 years, becoming a widely accepted public health strategy in economically developed countries. False-negative (FN) cases can occur...

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Autores principales: Taccetti, Giovanni, Botti, Matteo, Terlizzi, Vito, Cavicchi, Maria Chiara, Neri, Anna Silvia, Galici, Valeria, Mergni, Gianfranco, Centrone, Claudia, Peroni, Diego G., Festini, Filippo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7399885/
https://www.ncbi.nlm.nih.gov/pubmed/32630227
http://dx.doi.org/10.3390/diagnostics10070446
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author Taccetti, Giovanni
Botti, Matteo
Terlizzi, Vito
Cavicchi, Maria Chiara
Neri, Anna Silvia
Galici, Valeria
Mergni, Gianfranco
Centrone, Claudia
Peroni, Diego G.
Festini, Filippo
author_facet Taccetti, Giovanni
Botti, Matteo
Terlizzi, Vito
Cavicchi, Maria Chiara
Neri, Anna Silvia
Galici, Valeria
Mergni, Gianfranco
Centrone, Claudia
Peroni, Diego G.
Festini, Filippo
author_sort Taccetti, Giovanni
collection PubMed
description Cystic fibrosis (CF) is a life-threatening and common genetic disorder. Cystic fibrosis newborn screening (CF NBS) has been implemented in many countries over the last 30 years, becoming a widely accepted public health strategy in economically developed countries. False-negative (FN) cases can occur after CF NBS, with the number depending on the method. We evaluated the delayed diagnosis of CF, identifying the patients who had false-negative CF NBS results over 26 years (1992–2018) in Tuscany, Italy. The introduction of DNA analysis to the newborn screening protocol improved the sensitivity of the test and reduced the FNs. Our experience showed that, overall, at least 8.7% of cases of CF received FNs (18 cases) and were diagnosed later, with an average age of 6.6 years (range: 4 months to 22 years). Respiratory symptoms and salt-loss syndrome (metabolic hypochloremic alkalosis) are suggestive symptoms of CF and were commons events in FN patients. In Tuscany, a region with a high CFTR allelic heterogeneity, the salt-loss syndrome was a common event in FNs. Therefore, we provided evidence to support the claim that the FN patients had CFTR mutations rarer compared with the true-positive cases. We underline the importance of vigilance toward clinical manifestations suggestive of CF on the part of the primary care providers and hospital physicians in a region with an efficient newborn screening program.
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spelling pubmed-73998852020-08-17 Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy Taccetti, Giovanni Botti, Matteo Terlizzi, Vito Cavicchi, Maria Chiara Neri, Anna Silvia Galici, Valeria Mergni, Gianfranco Centrone, Claudia Peroni, Diego G. Festini, Filippo Diagnostics (Basel) Article Cystic fibrosis (CF) is a life-threatening and common genetic disorder. Cystic fibrosis newborn screening (CF NBS) has been implemented in many countries over the last 30 years, becoming a widely accepted public health strategy in economically developed countries. False-negative (FN) cases can occur after CF NBS, with the number depending on the method. We evaluated the delayed diagnosis of CF, identifying the patients who had false-negative CF NBS results over 26 years (1992–2018) in Tuscany, Italy. The introduction of DNA analysis to the newborn screening protocol improved the sensitivity of the test and reduced the FNs. Our experience showed that, overall, at least 8.7% of cases of CF received FNs (18 cases) and were diagnosed later, with an average age of 6.6 years (range: 4 months to 22 years). Respiratory symptoms and salt-loss syndrome (metabolic hypochloremic alkalosis) are suggestive symptoms of CF and were commons events in FN patients. In Tuscany, a region with a high CFTR allelic heterogeneity, the salt-loss syndrome was a common event in FNs. Therefore, we provided evidence to support the claim that the FN patients had CFTR mutations rarer compared with the true-positive cases. We underline the importance of vigilance toward clinical manifestations suggestive of CF on the part of the primary care providers and hospital physicians in a region with an efficient newborn screening program. MDPI 2020-07-01 /pmc/articles/PMC7399885/ /pubmed/32630227 http://dx.doi.org/10.3390/diagnostics10070446 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Taccetti, Giovanni
Botti, Matteo
Terlizzi, Vito
Cavicchi, Maria Chiara
Neri, Anna Silvia
Galici, Valeria
Mergni, Gianfranco
Centrone, Claudia
Peroni, Diego G.
Festini, Filippo
Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
title Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
title_full Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
title_fullStr Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
title_full_unstemmed Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
title_short Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
title_sort clinical and genotypical features of false-negative patients in 26 years of cystic fibrosis neonatal screening in tuscany, italy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7399885/
https://www.ncbi.nlm.nih.gov/pubmed/32630227
http://dx.doi.org/10.3390/diagnostics10070446
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