The researchers performed an analysis on infants born between 01.01.2011 and 31.08.2018 considering 257 children with CF and 336 with CFSPIDs (retrospective phase). The results show a mild disease manifestation for CFSPID subjects. In addition, a high management variability was found in the different clinical centers, especially for the sweat test (ST) that was carried out every 6 months only in 15.4% of cases. Of the 336 children with CFSPID, after a follow-up of approximately 3 years, only 65 received a conclusive diagnosis (19.3%). The researchers also report the evaluation on 50 CFSPID subjects, born between 01.09.2018 and 31.12.2019. More children had ST every 6 months and this led to an increase in the percentage of conclusive diagnoses (30%). Despite the variability of patient management in different clinical centers, the researchers report that CFSPID subjects have a milder clinical trend than CF cases and confirm the usefulness of the ST. The observation of the 336 CFSPID subjects will be continued in the extension of the project (FFC#24/2020). The psychological impact on families will be analyzed and guidelines for communicating on this long path towards the definitive diagnosis will be developed.

Pubblications

• Terlizzi V, Mergni G, Buzzetti R et al. Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): experience in Tuscany, Italy, Journal of Cystic Fibrosis, 2019 Jul;18(4):484-490
• Terlizzi V, Padoan R, Claut L et al. CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?, Diagnostics (Basel), 2020 Dec 12;10(12):1080
• Taccetti G, Botti M, Terlizzi V et al. Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy, Diagnostics (Basel), 2020 Jul 1;10(7):446
• Castaldo A, Cimbalo C, Castaldo RJ et al. Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders, Diagnostics (Basel), 2020 Aug 8;10(8):E570
• Terlizzi V, Mergni G, Centrone C et al. Trend of sweat chloride values in a cohort of patients carrying CFTRmutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?, Pediatr Pulmonol, 2020 May;55(5):1089-1093
• Botti M, Terlizzi V, Francalanci M et al. Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present, Italian Journal of Pediatrics, 2021 Jan 6;47(1):2.