New Guidelines Aim to Improve Early Detection of Cystic Fibrosis in Newborns - Video

Updated national guidelines on cystic fibrosis (CF) newborn screening have been issued by Ann & Robert H. Lurie Children's Hospital of Chicago in partnership with the Cystic Fibrosis Foundation and funded by the Centers for Disease Control and Prevention (CDC). The recommendations aim to improve early, accurate, and equitable detection of CF in infants across all racial and ethnic groups.

CF is a genetic disorder affecting approximately 40,000 children and adults in the United States, causing digestive and respiratory complications. Newborn screening is conducted in all states; however, variability in testing practices and genetic panels has contributed to missed or delayed diagnoses. Infants who are Black, Hispanic, or Asian are at increased risk of late diagnosis due to rarer CF-causing gene variants that are not commonly included in standard panels.

The updated recommendations focus on:

• Expanding detection across diverse populations.

• Reducing the time from birth to diagnosis and initiation of treatment.

• Ensuring early intervention to improve health outcomes.

The report highlights progress in early CF detection. In 2014, 40% of infants were evaluated after the recommended 28-day timeframe; by 2024, this decreased to 33%. Evidence indicates that infants diagnosed within the first two weeks of life exhibit improved nutrition at 1 and 5 years, leading to better growth, lung function, and overall disease trajectory.

Dr. Susanna McColley, co-author of the guidelines, emphasized the importance of rapid diagnostic evaluation following a positive newborn screen. She also cautioned that false-negative results may occur, particularly in Black or Asian infants. Infants displaying clinical signs of CF, such as bowel obstruction or growth faltering, should undergo diagnostic testing regardless of initial screening results.

The updated CF newborn screening guidelines represent a critical step toward equitable, timely diagnosis and intervention. Early detection is associated with improved growth, lung health, and long-term outcomes, reinforcing the importance of guideline implementation across diverse populations.

Source: Ann & Robert H. Lurie Children's Hospital of Chicago