Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations.

ABSTRACT: Early diagnosis by newborn screening (NBS) has contributed to improved outcomes in children with cystic fibrosis (CwCF). Georgia's two-tiered algorithm consists of a fixed immunoreactive trypsinogen (IRT) cut-off followed by a 39-variant CFTR genetic panel. We conducted a retrospective review of CwCF born in Georgia from 2007 to 2022 to evaluate false negative NBS frequency. We characterized CwCF whose diagnosis was delayed beyond 28 days of age despite positive NBS. Six cases were detailed demonstrating the impact of missed and delayed diagnoses. We examined IRT trends from 2018 to 2022 and cut-off approaches. Missed case detection by expanded CFTR variant assays was assessed. Of 390 CwCF born in Georgia, 18 (4.6%) had false negative NBS-6 due to lack of CFTR variant

SUBMITTER: Truitt B 

PROVIDER: S-EPMC12551103 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature