ArticleJournal of genetic counseling2012
Hispanic Infants with cystic fibrosis show low CFTR mutation detection rates in the Illinois newborn screening program.
Article in Journal of genetic counseling, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.International journal of neonatal screening · 2025Guideline
- Building Lay Society Knowledge and Education for Health Technology Assessment and Policy Engagement: Case of CFTR Modulator Access in Brazil.Healthcare (Basel, Switzerland) · 2025Review
- Research coordinators' perspectives on recruitment of minoritized people with cystic fibrosis into clinical trials.BMC pulmonary medicine · 2025Article
- Disparities and therapeutic advances in cystic fibrosis.Pediatric pulmonology · 2024Review
- Cystic fibrosis.Nature reviews. Disease primers · 2024Review
- Review
- Aiming to Improve Equity in Pulmonary Health: Cystic Fibrosis.Clinics in chest medicine · 2023Review
- Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2023Article
- Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.International journal of neonatal screening · 2022Article
- Left behind: The potential impact of CFTR modulators on racial and ethnic disparities in cystic fibrosis.Paediatric respiratory reviews · 2022Review
- Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype.Pediatric pulmonology · 2021Article
- Soft, skin-interfaced sweat stickers for cystic fibrosis diagnosis and management.Science translational medicine · 2021Article
- The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.Genes · 2020Review
- Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.Pediatric pulmonology · 2020Article
- The demographics of adverse outcomes in cystic fibrosis.Pediatric pulmonology · 2019Review
- Pulmonary function disparities exist and persist in Hispanic patients with cystic fibrosis: A longitudinal analysis.Pediatric pulmonology · 2017Article
- Changing incidence of cystic fibrosis in Wisconsin, USA.Pediatric pulmonology · 2015Article
- Cystic fibrosis in a Hispanic adolescent.Pediatric pulmonology · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
States develop specific protocols for cystic fibrosis (CF) newborn screening to reflect the population served. We hypothesized that mutation distribution and detection rates would differ between Hispanic and non-Hispanic CF patients diagnosed by IL newborn screen with more Hispanic infants carrying mutations not detected by the state panel. Data from CF cases diagnosed via newborn screen in IL between 3/1/2008 and 10/31/2010 were reviewed. More Hispanic infants with CF had one or more undefined mutations after screening, in comparison to non-Hispanic Caucasian patients (40% vs. 9.5%; p < 0.002). The risk of having a positive diagnosis of CF with only one mutation noted by positive newborn screen increases 2-fold in Hispanic Caucasian versus non-Hispanic Caucasian infants (5% vs. 2.4%). Health care providers must be aware of the limitations of CF newborn screening to ensure appropriate counseling and prompt referral for a positive newborn screen, even when zero or one mutations are identified.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.