The Cystic Fibrosis Foundation (CFF) convened a multidisciplinary committee of clinicians and researchers, relatives of patients living with cystic fibrosis (CF), and others with experience in managing CF in patients. The objective of the committee was to improve sensitivity, equity, and timeliness of cystic fibrosis screenings in newborns to decrease burden and enhance health outcomes. 

Seven recommendations were then developed and published last year in the systematic review-driven consensus guideline Cystic Fibrosis Newborn Screening. The recommendations were divided into four groups: immunoreactive trypsinogen (IRT), CFTR variant testing, CTFR sequencing, and communication.

Key Recommendations of the 2025 Guideline:
  • Immunoreactive Trypsinogen (IRT)
    • The Cystic Fibrosis Foundation recommends the use of a floating immunoreactive trypsinogen cutoff over a fixed immunoreactive trypsinogen cutoff.
    • The Cystic Fibrosis Foundation recommends using a very high immunoreactive trypsinogen referral strategy in CF newborn screening programs whose variant panel does not include all CF-causing variants in CFTR2 or does not have a variant panel that achieves at least 95% sensitivity in all ancestral groups within the state.
  • CFTR Variant Testing
    • The Cystic Fibrosis Foundation recommends that CF newborn screening algorithms should not limit CFTR variant detection to the F508del variant or variants included in the ACMG-23 panel.
    • The Cystic Fibrosis Foundation recommends that CF newborn screening programs screen for all CF-causing CFTR variants as identified by CFTR2.
    • The Cystic Fibrosis Foundation recommends conducting CFTR variant screening twice weekly or more frequently as resources allow.
  • CFTR Sequencing
    • The Cystic Fibrosis Foundation recommends the inclusion of a CFTR sequencing tier following IRT and CFTR variant panel testing to improve the specificity and positive predictive value of CF newborn screening.
  • Communication
    • The Cystic Fibrosis Foundation recommends that both the primary care provider and the CF specialist be notified of abnormal newborn screening results.

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