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.
This film was made as part of a pilot project to evaluate whether five new conditions should be tested for in England. As a result of the project screening for four of the conditions (MSUD, GA1, HCU and IVA) will be available in England from early 2015. There are currently no plans to perform routine screening for LCHADD in England, though children born with affected siblings or parents will continue to be tested.
The film was produced by the Genetics theme of the National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care for South Yorkshire (NIHR CLAHRC SY). Thank you to everyone who was involved in producing this film.
Camera/ Director - Emma Vickers
Producer/ Sound - Cathy Soreny
Editor - Rob Brown
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(LCHADD – Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, MSUD – Maple Syrup Urine Disease, GA1 – Glutaric Aciduria Type 1, HCU or HCys – Homocystinuria, IVA – Isovaleric Acidaemia).