ArticlePediatric pulmonology2023
Detection of disease-causing CFTR variants in state newborn screening programs.
Article in Pediatric pulmonology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses 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
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.Asian journal of andrology · 2025Pooled it
- Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.International journal of neonatal screening · 2025Guideline
- Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.Pediatrics · 2024Guideline
- Evolving Cystic Fibrosis Therapy: The Good, the Sad, and the Hopeful.Children (Basel, Switzerland) · 2026Review
- Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience.Pediatric pulmonology · 2026Article
- Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations.International journal of neonatal screening · 2025Article
- Article
- Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.JAMA internal medicine · 2025Article
- Refining CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Diagnosis: Impact of CFTR2 Variant Classifications.International journal of neonatal screening · 2025Review
- State-of-the-Art Review: Transformative Changes in the Care of People With Cystic Fibrosis: Implications for Infectious Diseases Specialists.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2025Review
- The Newborn Screening Experience of Caregivers of Children With Cystic Fibrosis in the United States: A Cross-Sectional Survey.Pediatric pulmonology · 2025Article
- Newborn Screening for Cystic Fibrosis Is Associated With the Lowest Healthcare Costs: A 10-Year Observational Follow-Up Study in France.Pediatric pulmonology · 2025Observational
- Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms.Pediatric pulmonology · 2025Article
- Cystic fibrosis year in review 2023.Pediatric pulmonology · 2024Review
- Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.Pediatric pulmonology · 2024Article
- Racial inequities and rareJournal of clinical & translational endocrinology · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Ethnic differences in staphylococcus aureus acquisition in cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2023Article
- Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening.Life (Basel, Switzerland) · 2023Review
- Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.International journal of neonatal screening · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundNewborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups.
objectiveOur objectives were to identify differences in detection rate by race and ethnicity for CFTR variant panels, identify each US state detection rate for CFTR variant panels, and describe the rate of false-negative NBS and delayed diagnoses by race and ethnicity.
methodsThis is a cross-sectional analysis of the detection rate of at least 1 CFTR variant for seven panels by race and ethnicity in genotyped people with CF (PwCF) or CFTR-related metabolic syndrome (CRMS)/CFTR-related disorders in CF Foundation Patient Registry (CFFPR) in 2020. We estimated the case detection rate of CFTR variant panels by applying the detection rate to Census data. Using data from CFFPR, we compared the rate of delayed diagnosis or false-negative NBS by race and ethnicity.
resultsFor all panels, detection of at least 1 CFTR variant was highest in non-Hispanic White PwCF (87.5%-97.0%), and lowest in Black, Asian, and Hispanic PwCF (41.9%-93.1%). Detection of at least 1 CFTR variant was lowest in Black and Asian people with CRMS/CFTR-related disorders (48.4%-64.8%). States with increased racial and ethnic diversity have lower detection rates for all panels. Overall, 3.8% PwCF had a false-negative NBS and 11.8% had a delayed diagnosis; Black, Hispanic, and mixed-race PwCF were overrepresented.
conclusionCFTR variant panels have lower detection rates in minoritized racial and ethnic groups leading to false-negative NBS, delayed diagnosis, and likely health disparities.
Indexed as
Identifiers
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.