The UK National Screening Committee (UK NSC) has announced its recommendation to screen every newborn baby in the UK for four new genetic disorders.
The current NHS Newborn Blood Spot Screening programme is set to be extended to screen for: Homocystinuria (HCU), Maple Syrup Urine Disease (MSUD), Glutaric Aciduria type 1 (GA1) and Isovaleric Aciduria (IVA).
It is believed that testing for these conditions, as part of the current programme, leading to early detection and treatment, will prevent those babies affected from dying or being severely disabled.
Dr Anne Mackie, director of programmes for the UK NSC, said: “We supported a pilot to look into the impacts of screening for these conditions. Since the start of the pilot in July 2012 more than 700,000 children in England have been tested for these disorders and 47 possible cases identified with 20 confirmed. We will help similar numbers each year now the extension is being rolled out.”
The pilot programme was run by Sheffield Children’s NHS Foundation Trust, which saw over 700,000 babies across the country being screened for the new diseases in addition to the current five for which every newborn is currently screened. Following the results of this trial, the UK NSC was able to recommend extending the programme.
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