Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis
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tween the annual increase in the rate of CT use and the annual decrease in the overall rate of false positive diagnosis of appendicitis among adults (P<0.001).The overall rate of pathologically proven appendiceal perforation decreased significantly, from 18% in 1996 to 5% in 2006 (P<0.001).Our data suggest that the increased use of highquality preoperative CT, with the results interpreted by experienced abdominal radiologists, has led to significantly improved clinical outcomes in adults, with a sustained decrease in rates of both false positive diagnosis of appendicitis and false positive diagnosis of appendiceal perforation.
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Some studies of cystic fibrosis carrier screening for a few common alleles have shown decreased prevalence of tested alleles over time rather than reduced disease incidence.
“In addition, some studies of cystic fibrosis carrier screening for a few common alleles have shown decreased prevalence of tested alleles with time, rather than reduced disease incidence (24, 25).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [25]
In “Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis” (page unavailable), the authors report fewer Massachusetts newborns with cystic fibrosis from 2003 to 2006, alongside fewer with the ΔF508/ΔF508 genotype. The claim’s contrast—decreased prevalence of a tested genotype rather than reduced disease incidence—conflicts with that report; the paper also studies newborns, not allele prevalence among screened carriers. (LLM, conf=0.88)
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- Authors
- Hale, J. E., Parad, R. B., & Comeau, A. M.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2008-02-28
- Volume
- 358
- Issue
- 9
- Pages
- 973-974
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2000852727
- Cited by
- 63
- References
- 3
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 3 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 4 · 2015: 7 · 2014: 2 · 2013: 8 · 2012: 6
- FWCI
- 5.76
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- eScholarship@UMassChan (submittedVersion)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Health Sciences › Medicine › Emergency Medicine › Appendicitis Diagnosis and Management
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- cystic fibrosis, newborn screening, incidence trends, computed tomography, appendicitis, appendiceal perforation, false-positive diagnosis, diagnostic imaging
- MeSH terms
- Cystic Fibrosis, Genotype, Humans, Infant, Newborn, Massachusetts, Neonatal Screening
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