Denise M Kay, Hossein Sadeghi, Catherine Kier, Maria Berdella, Joan K DeCelie-Germana, Zafer N Soultan, Danielle M Goetz, Michele Caggana, Christopher N Fortner, Robert Giusti, Robert Kaslovsky, Colleen Stevens, Karen Voter, John J Welter, Elinor Langfelder-Schwind
BACKGROUND: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs). AIMS: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers...
May 2, 2024: Pediatric Pulmonology