Severe lung disease in children with cystic fibrosis missed in newborn screening.

Kathrine BaldwinErin McElroy BarkerMary CarayannopoulosPhilip M FarrellRobert ZanniThomas F Scanlin

Published in: Pediatric pulmonology (2023)

This case series highlights the consequences of false negative screening results, which served as the impetus to upgrade New Jersey's CF NBS algorithm. Implemented changes include lowering the IRT cutoff to 70 ng/mL and expanding to a 139 variant CFTR panel. In 2023, a floating IRT cutoff is anticipated to be implemented.

Keyphrases

cystic fibrosis
machine learning
young adults
early onset
deep learning
drug induced