Expanded Newborn Screening Study

Expanded newborn screening

Currently all babies in England are screened for phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency. In several other countries, additional rare disorders are also screened for.

In order to gain more information to appraise the viability, effectiveness and appropriateness of screening for the additional disorders as part of the newborn blood spot screening programme for the UK, a newborn screening study is taking place in five areas. These areas are: Yorkshire, the East Midlands, the West Midlands, the North West of England and some parts of London and the South East. Five additional rare disorders are being included in the study: maple syrup urine disease, homocystinuria (pyridoxine unresponsive), isovaleric acidaemia, glutaric aciduria type 1 and long-chain hydroxyl acyl-CoA dehydrogenase deficiency. The study, lasting for one year, will begin with babies tested on or after 16th July 2012 and end with those tested on or before 19th July 2013. On the basis of this study, the UK National Screening Committee will then decide whether these conditions should be included in the routine programme.

It was announced in March 2013 that the period for which newborn babies will be screened for these conditions has been extended until 31st March 2014. Data will still be collected and analysed for the period 16th July 2012 to 19th July 2013 inclusive.

For more information about the study, please visit the Expanded Newborn Screening website.

June 2012 update - Screening offered up to one year, where screening results are unavailable

Procedures for newborn blood spot screening of babies under a year of age, for whom screening results are not available have been published. The document covers the procedures and advice to parents. If you have any questions about this policy, please feel free to contact the Programme Centre.