Literature DB >> 18154893

Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs.

Virginie Scotet1, Baroukh M Assael, Ingrid Duguépéroux, Anna Tamanini, Marie-Pierre Audrézet, Claude Férec, Carlo Castellani.   

Abstract

OBJECTIVE: To determine the incidence of cystic fibrosis (CF) and its time trends over a 16-year period (1990 to 2005) in 2 European regions with a long history of newborn screening (NBS) for CF, and to investigate the impact of some external factors. STUDY
DESIGN: This study focused on data from NBS and prenatal diagnosis (PD) in Brittany (western France) and Veneto/Trentino Alto-Adige (northeastern Italy).
RESULTS: Similar birth incidences of CF were observed in the 2 regions (1/3153 vs 1/3540; P = .245). Time trend analysis using Poisson regression revealed that the birth incidence decreased significantly in the Italian area only (average annual percent change [AAPC] = -4.7%; 95% confidence interval [CI] = -7.3 to -2; P = .0008). The use of PD appeared more common in Brittany, and considering the terminations of CF-affected fetuses, the adjusted incidence was 1/2191 in Brittany and 1/3116 in Veneto/Trentino, corresponding to variations of 30.5% (highly significant; P = .0002) and 12% (not significant; P = .16), respectively. Recording the reason for each PD allowed ready assessment of the affect of various public health policies on incidence. The affect of population mixing also appeared to be relevant in the Italian area.
CONCLUSIONS: This study highlights how the incidence of CF has evolved in 2 European regions that have different attitudes toward PD and immigration policy.

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Year:  2007        PMID: 18154893     DOI: 10.1016/j.jpeds.2007.07.046

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  7 in total

1.  Delayed cystic fibrosis presentation in children in the absence of newborn screening.

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2.  High-throughput sequencing and rare genetic diseases.

Authors:  P Makrythanasis; S E Antonarakis
Journal:  Mol Syndromol       Date:  2012-11-09

3.  Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.

Authors:  Veronika Krulišová; Miroslava Balaščaková; Veronika Skalická; Tereza Piskáčková; Andrea Holubová; Jana Paděrová; Petra Křenková; Lenka Dvořáková; Dana Zemková; Petr Kračmar; Blanka Chovancová; Věra Vávrová; Alexandra Stambergová; Felix Votava; Milan Macek
Journal:  Eur J Pediatr       Date:  2012-05-12       Impact factor: 3.183

4.  Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

Authors:  Graham Sinclair; Vanessa McMahon; Amy Schellenberg; Tanya N Nelson; Mark Chilvers; Hilary Vallance
Journal:  Int J Neonatal Screen       Date:  2020-06-02

5.  Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.

Authors:  Carlo Castellani; Luigi Picci; Gloria Tridello; Elia Casati; Anna Tamanini; Lucia Bartoloni; Maurizio Scarpa; Baroukh M Assael
Journal:  Genet Med       Date:  2015-06-18       Impact factor: 8.822

6.  Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.

Authors:  Scott D Grosse
Journal:  Healthcare (Basel)       Date:  2015-11-11

7.  Early diagnosis from newborn screening maximises survival in severe cystic fibrosis.

Authors:  Gloria Tridello; Carlo Castellani; Ilaria Meneghelli; Anna Tamanini; Baroukh M Assael
Journal:  ERJ Open Res       Date:  2018-04-20
  7 in total

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