ArticleEuropean journal of pediatrics2016
Screening for cystic fibrosis in New York State: considerations for algorithm improvements.
Article in European journal of pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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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.
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Who cites it
14 citing papers in PubMed, 32 citations in OpenAlex.
- Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing.International journal of neonatal screening · 2024Article
- IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population.Cadernos de saude publica · 2024Observational
- Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition.International journal of neonatal screening · 2023Article
- Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences.International journal of neonatal screening · 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
- Case report: Cystic fibrosis with kwashiorkor: A rare presentation in the era of universal newborn screening.Frontiers in pediatrics · 2022Article
- Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.International journal of neonatal screening · 2021Article
- The Impact of Seasonal Changes on Thyroxine and Thyroid-Stimulating Hormone in Newborns.International journal of neonatal screening · 2021Article
- [Results of the neonatal screening on Western Andalusia after a decade of experience.]Revista espanola de salud publica · 2020Article
- Targeted next generation sequencing for newborn screening of Menkes disease.Molecular genetics and metabolism reports · 2020Article
- Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.International journal of neonatal screening · 2020Article
- The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns.European journal of pediatrics · 2017Article
- Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.Journal of inborn errors of metabolism and screeningArticle
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening for CF involved measuring immunoreactive trypsinogen (IRT) levels in dried blood spots from newborns using the IMMUCHEM(™) Blood Spot Trypsin-MW ELISA kit. Any specimen in the top 5% IRT level underwent DNA analysis using the InPlex(®) CF Molecular Test. Of the 1.48 million newborns screened during the 6-year time period, 7631 babies were referred for follow-up. CF was confirmed in 251 cases, and 94 cases were diagnosed with CF transmembrane conductance regulated-related metabolic syndrome or possible CF. Nine reports of false negatives were made to the program. Variation in daily average IRT was observed depending on the season (4-6 ng/ml) and kit lot (<3 ng/ml), supporting the use of a floating cutoff. The screening method had a sensitivity of 96.5%, specificity of 99.6%, positive predictive value of 4.5%, and negative predictive value of 99.5%.
conclusionConsiderations for CF screening algorithms should include IRT variations resulting from age at specimen collection, sex, race/ethnicity, season, and manufacturer kit lots. WHAT IS KNOWN: Measuring IRT level in dried blood spots is the first-tier screen for CF. Current algorithms for CF screening lead to substantial false-positive referral rates. WHAT IS NEW: IRT values were affected by age of infant when specimen is collected, race/ethnicity and sex of infant, and changes in seasons and manufacturer kit lots The prevalence of CF in NYS is 1 in 4200 with the highest prevalence in White infants (1 in 2600) and the lowest in Black infants (1 in 15,400).
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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.