Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.
CFTR mutation screening
cystic fibrosis
diagnosis cystic fibrosis
false-negative cystic fibrosis screening
metabolic alkalosis
neonatal screening
salt-loss syndrome
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
01 Jul 2020
01 Jul 2020
Historique:
received:
11
05
2020
revised:
24
06
2020
accepted:
28
06
2020
entrez:
8
7
2020
pubmed:
8
7
2020
medline:
8
7
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 32630227
pii: diagnostics10070446
doi: 10.3390/diagnostics10070446
pmc: PMC7399885
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Fondazione per la Ricerca sulla Fibrosi Cistica
ID : project FFC#30/2018
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