Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.

Marianne SkovMarie Baekvad-HansenDavid M HougaardKristin SkogstrandAllan M LundTania PresslerHanne V OlesenMorten Duno

Published in: Pediatric pulmonology (2019)

During the first 2 years of NBS CF screening in Denmark, we identified close to the expected number of infants with CF using an algorithm based on IRT, presence of F508del mutation and comprehensive genetic analysis. CFSPID accounted for only a small minority, despite comprehensive CFTR sequencing, whereas more carriers than initially expected were identified.

Keyphrases

cystic fibrosis
pseudomonas aeruginosa
lung function
machine learning
deep learning
single cell
air pollution