Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

ABSTRACT: Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further pro

SUBMITTER: Loeber JG 

PROVIDER: S-EPMC8006225 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature