Cystic Fibrosis in Tuscany: Evolution of Newborn Screening Strategies over Time to the Present

Overview

Journal Ital J Pediatr

Publisher Biomed Central

Specialty Pediatrics

Date 2021 Jan 7

PMID 33407736

Citations 4

Authors

Matteo Botti

Vito Terlizzi

Michela Francalanci

Daniela Dolce

Maria Chiara Cavicchi

Anna Silvia Neri

Valeria Galici

Gianfranco Mergni

Lucia Zavataro

Claudia Centrone

Filippo Festini

Giovanni Taccetti

Affiliations

Soon will be listed here.

Abstract

Background: Cystic fibrosis (CF) is a life-threatening disease affecting about 1:3000 newborns in Caucasian populations. The introduction of newborn screening for cystic fibrosis (CF NBS) has improved the clinical outcomes of individuals with CF through early diagnosis and early treatment. NBS strategies have been implemented over time. CF NBS was introduced extensively in 1984 in Tuscany, a region with 3.7 million people, characterized by a high allelic heterogeneity of CFTR gene.

Aim And Methods: The aim of the study is to present the results from 34 years (1984-2018) of CF NBS, retrospectively evaluating the sensitivity, specificity and predictive values of the tests. In particular, we studied the impact of the introduction of DNA molecular analysis in NBS in a region with high allelic heterogeneity, such as Tuscany.

Results: Over these 34 years, 919,520 neonates were screened, using four different NBS strategies. From 1984 to 1991, CF NBS was performed by the determination of albumin on dried meconium (sensitivity 68.75%; specificity 99.82%). Subsequently, the analysis of immunoreactive trypsinogen on a blood spot was adopted as CF NBS protocol (sensitivity 83.33%; specificity 99.77%). From 1992 to 2010, this strategy was associated with lactase meconium dosage: IRT1/IRT2 + LACT protocol (sensitivity 87.50%; specificity 99.82%). From 2011, when the existing algorithm was integrated by analysis of CF causing variants of the CFTR gene (IRT1/IRT2 + LACT + IRT1/DNA protocol), a substantial improvement in sensitivity was seen (senisitivity 96.15%; specificity 99.75%). Other improved parameters with DNA analysis in the NBS programme, compared with the previous method, were the diagnosis time (52 days vs. 38 days) and the recall rate (0.58 to 0.38%).

Conclusion: The inclusion of DNA analysis in the NBS was a fundamental step in improving sensitivity, even in a region with high allelic variability.

Citing Articles

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).

Therrell B, Padilla C, Borrajo G, Khneisser I, Schielen P, Knight-Madden J Int J Neonatal Screen. 2024; 10(2).

PMID: 38920845 PMC: 11203842. DOI: 10.3390/ijns10020038.

Microbiology of cystic fibrosis persons not chronically infected with : A quasi-experimental study on two different upper airways' sampling methods.

Dolce D, Ravenni N, Fevola C, Francalanci M, Bonomi P, Cavicchi M Heliyon. 2024; 10(5):e26978.

PMID: 38449646 PMC: 10915376. DOI: 10.1016/j.heliyon.2024.e26978.

Comparison between Gibson-Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis.

Dolce D, Fevola C, Camera E, Orioli T, Lucenteforte E, Malanima M Int J Neonatal Screen. 2023; 9(3).

PMID: 37606478 PMC: 10443242. DOI: 10.3390/ijns9030041.

Nutritional Status and Circulating Levels of Fat-Soluble Vitamins in Cystic Fibrosis Patients: A Cohort Study and Evaluation of the Effect of CFTR Modulators.

Francalanci M, Terlizzi V, Fevola C, Di Rosa G, Pierattini V, Roselli E Children (Basel). 2023; 10(2).

PMID: 36832382 PMC: 9955178. DOI: 10.3390/children10020252.

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