Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations
Brittany Truitt1,2, Eileen Barr2,3, Angela Wittenauer3
1Department of Pediatrics, Emory University, Atlanta, GA 30322, USA.
International Journal of Neonatal Screening
|October 24, 2025
Summary
Newborn screening for cystic fibrosis (CF) in Georgia has false negatives, particularly impacting minority infants. Expanding genetic testing could improve early detection and outcomes for children with CF.
Area of Science:
- Medical Genetics
- Newborn Screening
- Pediatric Pulmonology
Background:
- Early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) significantly improves patient outcomes.
- Georgia utilizes a two-tiered NBS algorithm involving immunoreactive trypsinogen (IRT) and a 39-variant *CFTR* genetic panel.
Purpose of the Study:
- To evaluate the frequency of false-negative NBS results in children with CF (CwCF) in Georgia.
- To identify factors contributing to delayed CF diagnoses beyond 28 days of age.
- To assess the impact of race and ethnicity on missed or delayed diagnoses.
Main Methods:
- Retrospective review of CwCF born in Georgia between 2007 and 2022.
- Analysis of NBS data, including IRT levels and *CFTR* variant detection.
- Characterization of cases with delayed diagnoses and examination of demographic disparities.
Main Results:
- Of 390 CwCF, 4.6% had false-negative NBS results due to lack of *CFTR* variant detection or low IRT.
- Thirty children experienced delayed diagnoses, often linked to sweat testing.
- Minoiritized infants, particularly Black and Hispanic infants, faced significantly higher odds of missed or delayed diagnoses.
Conclusions:
- Current NBS protocols in Georgia can result in missed or delayed CF diagnoses.
- Disparities in diagnosis rates exist among different racial and ethnic groups.
- Expanding *CFTR* variant assays and refining NBS protocols are recommended to improve early detection and reduce diagnostic delays.
