Newborn Screening helps to diagnose babies with rare metabolic disorders in the first few days of life. These conditions can cause serious illness, which can result in death or serious disabilities. Screening offers a window of opportunity to keep these children well, and with support they can live normal lives. In the UK there is a pilot to add five new conditions to the existing screening test.
Find out more information at expandedscreening.org
The NIHR CLAHRC for South Yorkshire is co-ordinating the evaluation of an expanded screening test, which if proved effective, could help to diagnose these additional five conditions - MSDU, GA1, LCHADD, HCU & IVA. Produced for the Genetics theme of CLAHRC for South Yorkshire.