11 August 2017


The NHS is to consider introducing screening for severe combined immune deficiency, using the existing baby heel-prick test, it has been announced.

Government advisers have ruled out screening for three other conditions: thrombophilia, praevia and tyrosinaemia type 1.

The recommendations come from the UK National Screening Committee - but it says that more information is needed before a final decision is taken.

It calls for evidence that screening for SCID saves lives - and wants to establish how many healthy babies might be found to have low white blood cell counts.

A consultation on the proposals is to run until early November. A SCID test would be the tenth to use the new-born blood spot test for screening programmes.

Dr Ann Mackie, director of programmes of the UK National Screening Committee, said: 'This consultation will consider key organisations’ and the public’s views on how testing for SCID would work practically within the NHS. We need this information before the Screening Committee can make a recommendation on including SCID as part of the new-born programme.'

The committee rejected screening for praevia because of concerns about the accuracy of the test and whether this would lead to healthy pregnancies being considered high risk.

It also rejected screening for thrombophilia for babies, pregnant women and other adults because of a lack of evidence of benefit.

Testing for tyrosinaemia type 1 was rejected amid concerns that the test could fail to identify some affected children. It said the screening test would find most babies with the condition but might miss some.


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