National newborn screening pilot expanded

While all babies born in the UK are already tested for five rare but serious conditions, it has recently been announced that the number of disorders newborns are screened for is set to increase. The announcement follows a successful year-long pilot, screening 700,000 babies through six participating centres in the UK.

Viapath’s South East Thames Regional Newborn Screening Laboratory, part of our Biochemical Sciences service, was involved in the pilot, screening 120,000 babies.

The pilot commenced in July 2012 with five new disorders added to the existing screening repertoire: Maple Syrup Urine Disease, Isovaleric Acidaemia, Homocystinuria, Glutaric Aciduria type 1 and Long Chain Acyl CoA Dehydrogenase Deficiency (LCHADD).  

Screening for the extra conditions has had minimal impact on the test as no additional blood is required from the baby and turnaround times remain the same. 

The test is however more expensive as the post analytical pathway is more complex.  So far Viapath have identified three babies with one of these conditions.

At the end of last week the National Screening Committee announced its decision that we will continue to screen for four of these disorders but not for LCHADD. 

This is great news as the Viapath team has been very proud to be one of the pilot sites, collaborating closely with the Metabolic team at the Evelina London Children's Hospital.

We’re also one of only two laboratories who are able to provide the follow up test for homocystinuria.

Click here for more information on our Newborn Screening Laboratory at St Thomas’ Hospital, including our full test repertoire and recent publications.