ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Designing National Programmes for Expanded Carrier Screening: Results from a Discrete-Choice Experiment in Singapore.The patient · 2026Article
- Article
- The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form.Practical laboratory medicine · 2024Article
- Cystic fibrosis management in pediatric population-from clinical features to personalized therapy.Frontiers in pediatrics · 2024Review
- Article
- MicroRNA global profiling in cystic fibrosis cell lines reveals dysregulated pathways related with inflammation, cancer, growth, glucose and lipid metabolism, and fertility: an exploratory study.Acta bio-medica : Atenei Parmensis · 2022Article
- Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters.Diagnostics (Basel, Switzerland) · 2021Article
- Review
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
- Newborn Screening for CF across the Globe-International journal of neonatal screening · 2020Review
- Expanded universal carrier screening and its implementation within a publicly funded healthcare service.Journal of community genetics · 2020Review
- The future of cystic fibrosis care: a global perspective.The Lancet. Respiratory medicine · 2020Review
- Deciding on cystic fibrosis carrier screening: three citizens' juries and an online survey.European journal of public health · 2018Article
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications.European journal of human genetics : EJHG · 2018Review
- Recent developments in genetics and medically-assisted reproduction: from research to clinical applicationsHuman reproduction open · 2017Article
- Screening for cystic fibrosis in New York State: considerations for algorithm improvements.European journal of pediatrics · 2016Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe evaluated the effects of cystic fibrosis (CF) carrier screening on birth prevalence trends and newborn screening (NBS) efficiency by comparing two Italian regions; carrier screening was performed in one region (eastern region (ER)) and not in the other (western region (WR)).
methodsAnnual births of infants with CF, NBS false-positive results, NBS uncertain diagnoses (borderline sweat chloride (BSC)), carrier tests performed, and carriers detected were monitored during the 1993-2013 period. MEASUREMENTS AND MAIN
resultsA total of 259 newborns with CF were detected. In the ER, 150 carrier couples were found. Mean annual percentage of birth prevalence decrease was 9% per 10,000 (P = 0.002) and was greater in the ER (15%, P = 0.0008; WR 1%, P = ns). The WR estimated birth prevalence was 1/3,589 in 1993 and 1/3,870 in 2013; in the ER it was 1/2,730 in 1993 and 1/14,200 in 2013. The ER birth prevalence correlated inversely with the number of carrier couples (P = 0.0032). The ratio between CF cases and NBS-positive results significantly decreased in the ER (1.6%, P = 0.0001) but not in the WR. The ratio between prevalence of BSC and of CF cases increased in the ER (P = 0.008) but not in the WR (P = 0.1).
conclusionCarrier screening was connected with a decrease in birth prevalence of CF. Poorer NBS performance was observed in the carrier screening area.
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