6 How should we manage incidental identification of carrier status in children?

Abstract

ObjectiveWhen a child is diagnosed with cystic fibrosis, their siblings are at risk of being carriers. While international guidelines recommend against carrier testing in children, carrier status may be identified incidentally in childhood through 1) newborn screening programs, 2) genetic testing to exclude affected status in a sibling, or 3) prenatal testing. This study aims to assess how genetic health professionals discuss incidental carrier status and explore parents’ experiences of receiving this information following the diagnosis of a child with cystic fibrosis.MethodsThese findings emerged from a broader qualitative study examining requests for and communication of carrier results wi..