Northern Genetics Service

Newborn Screening

The national newborn screening programme was introduced in 1969 for Phenylketonuria (PKU) and in 1981 for Congenital Hypothyroidism. More recently, screening has been introduced for Sickle Cell Disease (2005), Cystic Fibrosis (2007) and Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) (2009).

The objective of the screening programme is to allow early detection and treatment in order to minimise the future morbidity and mortality associated with these conditions. The screening pathways have been defined by the National Screening Programme with local implementation overseen by regional screening teams. An information leaflet, 'Screening tests for your baby' available from the UK Screening Portal should be given to all mothers prior to the heel prick being undertaken.

Newborn Screening is recommended for all babies. The bloodspot sample is taken from the baby’s heel ideally on day 5 of age (day 5-8). The day of birth is day 0 irrespective of time of birth. Samples are taken irrespective of prematurity, milk feeds or blood transfusion (although further testing may also be required at some future point in these cases). The purpose of screening is to identify babies more likely to have the conditions, but it is important for patients to understand that screening is not 100% accurate. If the bloodspot screen is positive, further confirmatory tests will be needed.


Links & Contacts

Links to all antenatal and newborn screening programmes, resources and details of the regional screening teams are available on the UK Screening Portal: www.screening.nhs.uk

Further information on the national screening programme is available from the UK Newborn Screening Programme Centre: www.newbornbloodspot.screening.nhs.uk

Northern Regional Screening Laboratory Contacts:
Steve.Turner@nuth.nhs.uk     

North East Regional Screening Coordinator:
kim.moonlight@dh.gsi.gov.uk  

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