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Guidelines Developed to Improve Newborn Screening for Cystic Fibrosis

By Elana Gotkine HealthDay Reporter

Medically reviewed by Carmen Pope, BPharm. Last updated on April 18, 2025.

FRIDAY, April 18, 2025 -- In a guideline issued by the U.S. Cystic Fibrosis Foundation and published online April 2 in the International Journal of Neonatal Screening, recommendations are presented to improve sensitivity, equity, and timeliness of cystic fibrosis (CF) screening in newborns.

Meghan E. McGarry, M.D., from the University of Washington School of Medicine in Seattle, and colleagues developed recommendations for newborn screening program practices to improve the diagnosis of infants with CF.

The authors developed seven recommendations for newborn screening practices. Use of a floating immunoreactive trypsinogen (IRT) cutoff is recommended over a fixed IRT cutoff. In CF newborn screening programs with variant panels that do not include all CF-causing variants in CFTR2 or variant panels that do not achieve at least 95 percent sensitivity in all ancestral groups within the state, a very high IRT referral strategy is recommended. CF newborn screening algorithms should not limit CFTR variant detection to the F508del variant or variants included in the American College of Medical Genetics-23 panel. Screening programs should screen for all CF-causing CFTR variants in CFTR2. CFTR variant screening is recommended twice a week or more frequently as resources allow. To improve the specificity and positive predictive value of CF newborn screening, a CFTR sequencing tier should be included following IRT and CFTR variant panel testing. Both the primary care provider and CF specialist should be notified of abnormal newborn screening results.

"Newborn screening programs have allowed for early diagnosis, improved monitoring, and early treatment for most infants with CF," the authors write. "It is crucial for programs to engage in continued process improvement to ensure that all infants with CF benefit from timely and accurate identification."

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Posted April 2025

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