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Screening changes confirmed

1 January, 2015

Screening changes confirmed

Every newborn baby in England will be screened for four rare inherited metabolic diseases (IMDs) from 5 January, Public Health England has confirmed.

Wales will follow in early 2015, but Scotland and Northern Ireland have yet to decide whether they will introduce screening for the conditions.

The diseases – homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric aciduria (IVA) – will be tested for as part of the existing blood spot test.

The heel prick test already screens babies for five conditions: sickle cell disease, cystic fibrosis, congenital hypothyroidism, phenylketonuria and medium-chain acyl-CoA dehydrogenase deficiency. 

The UK National Screening Committee recommended that four new IMDs were added to newborn blood spot screening in the UK.

About half of England took part in a pilot and these areas are already screening for the new conditions.

Public Health England has launched a new online learning module, which is applicable to midwives, on the expansion of the newbornblood spot screening programme.

Click here for more information, and here for the new online learning module.


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