In honor of Cystic Fibrosis Awareness Month 2025, we’ll review what’s changed in newborn screening for cystic fibrosis.

Cystic fibrosis (CF) is a rare progressive genetic disease that affects the lungs and other organs. People with this disease have mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. As a result, chloride is unable to move to the cell surface to attract water. This causes mucus to be thick and sticky. Frequent lung infections, productive cough, and breathing problems are some of the common issues that people with CF face.

Thanks to universal newborn screening most people with CF are diagnosed by the age of 2 years. However, newborn screening algorithms are not all the same. The most recent recommendations for newborn screening from the Cystic Fibrosis Foundation aim to improve the speed of diagnosis, sensitivity of testing, and equity across various races and ethnicities.

This article will focus specifically on recent changes involving testing for the F508del variant.

Part 1: Recent Guideline
Part 2: F508del variants
  • Newborn screening algorithms should not limit CFTR variant detection to the F508del variant or variants included in the ACMG-23 panel.
    • Infants of European descent are more likely to have the F508del variant.
    • The F508del and ACMG-23 panel included variants primarily seen in CF populations with Northern European or Ashkenazi Jewish ancestry.
    • The F508del variant or the ACMG-23 panel results in an unacceptably high rate of false negatives, especially in American Indian, Asian, Black, Hispanic, or multiracial groups.
    • As of 2023 the 23-variant panel was replaced with a minimum of 100 variants for better CF carrier detection among major ancestral groups in the US.

Thank you for taking the time to review this change to newborn screening for CF. Please sign up for alerts to stay up to date on the latest published guidelines and articles.

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