Expanded Newborn Screening

Four conditions are new additions to newborn blood spot screening in the UK:


-        Maple Syrup Urine Disease

-        Homocystinuria(pyridoxine unresponsive)

-        Glutaric aciduria type 1

-        Isovaleric acidaemia


GOSH Newborn Screening Laboratory took part in the Expanded Screening pilot scheme so have already been screening for the new conditions since July 2012; it is proposed that the other areas in England will begin screening in January 2015.


Expanded screening e-learning 


An expanded newborn bloodspot screening e-learning resource is currently under development by the NHS Newborn Blood Spot Screening Programme. The 12 minute resource will include:


-        An introduction by an expert clinical lead

-        A film of an interview with parents of an affected child

-        Signs and symptoms

-        Early effects

-        Treatment

-        A review of the conditions currently screened for

-        Printable certificate of completion


To access the expanded screening e-learning visit newbornbloodspot.screening.nhs.uk/elearning


© 2011 Great Ormond Street Hospital for Children NHS Trust