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Newborn Screening - Overview


Living with a rare disorder and the role of screening

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For the attention of researchers

The research arm of the Expanded Newborn Screening Project has now ended.  Thank you to everyone who helped and supported this project.

Our Aims

Newborn blood spot screening identifies babies who may have rare but serious conditions.  Most babies screened will not have any of the conditions but, for the small number that do, the benefits of screening are enormous. Early treatment can improve their health and prevent severe disability or even death.

Study Scope

Currently all babies in England are screened for phenylketonuria, congenital hypothyroidism, sickle cell disorders, cystic fibrosis and MCADD.  In several other countries additional rare disorders have also successfully been included in this list.  A newborn screening study is taking place in five areas to explore the potential for this "expansion": in England, these areas include:  Yorkshire, the East Midlands, the West Midlands, the North west of England and London and the South East, they will evaluate screening for five additional rare disorders: 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.  The study involves data collection on medical care received by babies who are identified as screen positive.  Any baby tested on or before 19th July 2013 will be eligible to be involved in the study and consent will be sought from the parents or guardians for this.  Data will be collected for a period of four months and health economics analysis completed.  These results will be subsequently considered by the UK National Screening Committee.

In order to allow time for the evaluation to be completed and considered by the National Screening Committee early in 2014 it has been agreed to continue testing for the five additional conditions at the current six centres (Leeds, Manchester, Sheffield, Birmingham, Guy's St Thomas and Great Ormond Street) until 31st August 2014.  Any baby identified as potentially having one of these conditions within the time period from 19th July 2013 until 31st August 2014 will receive all care and treatment as required but will not be included in the research study.  A letter from Anne Mackie, National Screening Director can be downloaded from here confirming this arrangement.

From 1 September 2014 testing for four of the conditions will continue at the pilot sites.  The rest of England will begin screening in early 2015.

Evaluation

This evaluation is being co-ordinated by the Collaboration for Leadership in Applied Health Research and Care based in South Yorkshire and is funded by the National Institute of Health Research

Information

This website provides information that was developed as part of the Expanded Newborn Screening Project.  Although the study has now closed the information that was developed for parents and health professionals about the conditions and the study are still available through this site for information only.

JR Bonham, Clinical Director, Sheffield Children's NHS Foundation Trust

 

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