Advances in Cystic Fibrosis Newborn Screening: From Laboratory Testing to Diagnosis

Special Issue Editors


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Guest Editor
1. Ann & Robert H. Lurie Children’s Hospital, Chicago, IL 60611, USA
2. Division of Pulmonary and Sleep Medicine, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Interests: pediatric cystic fibrosis-epidemiology; health disparities; clinical trials; newborn screening; health equity, diversity and inclusion; anti-racism

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Guest Editor
Center for Public Health Innovation, Evergreen, CO 80439, USA
Interests: newborn screening; cystic fibrosis; system improvement

Special Issue Information

Dear Colleagues,

This Special Issue will spotlight cystic fibrosis (CF) newborn screening, highlighting current advancements and ongoing challenges. We aim to publish comprehensive insights on various aspects of CF newborn screening, including IRT analysis, CFTR testing, sweat testing, diagnosis, and the critical roles of communication, education, and genetic counseling. Additionally, we will explore quality improvement, quality assurance, and system development throughout the screening and diagnostic pathways. This Issue will serve as a valuable resource for enhancing practices in CF newborn screening.

Prof. Dr. Susanna A. McColley
Dr. Marci K. Sontag
Guest Editors

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Keywords

  • newborn screening
  • cystic fibrosis
  • diagnosis
  • immunoreactive trypsinogen
  • CFTR
  • genetic testing

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Published Papers (1 paper)

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Research

10 pages, 1690 KiB  
Article
Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing
by Stanley Sciortino, Steve Graham, Tracey Bishop, Jamie Matteson, Sarah Carter, Cindy H. Wu and Rajesh Sharma
Int. J. Neonatal Screen. 2024, 10(4), 76; https://doi.org/10.3390/ijns10040076 - 22 Nov 2024
Viewed by 1051
Abstract
The California Genetic Disease Screening Program (GDSP) employs a fixed immunoreactive trypsinogen (IRT) cutoff followed by molecular testing to screen newborns for cystic fibrosis (CF). The cutoffs approximate a 1.6% yearly IRT screen-positive rate; however, seasonal variation in IRT population means has led [...] Read more.
The California Genetic Disease Screening Program (GDSP) employs a fixed immunoreactive trypsinogen (IRT) cutoff followed by molecular testing to screen newborns for cystic fibrosis (CF). The cutoffs approximate a 1.6% yearly IRT screen-positive rate; however, seasonal variation in IRT population means has led us to develop a model to establish fixed IRT cutoffs that anticipate seasonal variation and minimize missed cases below cutoff. We utilized an ARIMA model to fit monthly IRT screen-positive percentiles and estimated regular seasonal expectations. We established a retrospective cohort followed for at least 1.5 years to capture missed false-negative CF cases. We compared missed CF cases identified by seasonal cutoffs vs. floating cutoffs. GDSP screened 7,410,003 newborns, from July 2007 to December 2022, and missed 36 CF cases below the fixed cutoff; five of the 36 were within 3 ng/mL below the cutoff. There was a regular, seasonal cycle that varied from 1.4% in summer to 1.8% in winter. We would have missed 59 CF cases using a 1.6% daily floating cutoff. California would need to use a 4% daily floating cutoff to improve our current detection rate, which would double the number of specimens sent for costly molecular analysis. Full article
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