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Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2021

Open Access 01-12-2021 | Cystic Fibrosis | Research

Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present

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

Published in: Italian Journal of Pediatrics | Issue 1/2021

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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.
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Metadata
Title
Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present
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
Publication date
01-12-2021
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2021
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-020-00948-8

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