ArticleDiagnostics (Basel, Switzerland)2020
Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.
Article in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Tracheal Diverticula in People with Cystic Fibrosis on Elexacaftor/Tezacaftor/Ivacaftor: An Italian Multicenter Retrospective Study.Journal of clinical medicine · 2025Article
- Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.BMJ open · 2025Article
- Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.European journal of pediatrics · 2023Article
- Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition.International journal of neonatal screening · 2023Article
- Contemporary cystic fibrosis incidence rates in Canada and the United States.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2023Article
- Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.International journal of neonatal screening · 2022Article
- Modulator Therapy in Cystic Fibrosis Patients withJournal of personalized medicine · 2022Article
- Dornase alfa in Cystic Fibrosis: indications, comparative studies and effects on lung clearance index.Italian journal of pediatrics · 2022Review
- Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis.Journal of clinical medicine · 2022Review
- Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.International journal of neonatal screening · 2022Article
- Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.Molecular genetics & genomic medicine · 2022Article
- CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.JCI insight · 2022Article
- Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report.Clinical medicine & research · 2022Article
- Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype.Molecular genetics & genomic medicine · 2021Article
- Article
- Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present.Italian journal of pediatrics · 2021Article
- CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?Diagnostics (Basel, Switzerland) · 2020Article
- Clinical complications in children with false-negative results in cystic fibrosis newborn screening.Jornal de pediatriaArticle
- Article
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10 authors.
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Abstract
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
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