Expanded Newborn Screening

Project LeadDr Jim Bonham
Theme Co-ordinatorJason Sowter
Project ManagerDr Kathy Jeays-Ward

Newsletters

The Expanded Newborn Screening Newsletter October 2013 
- available for download from our resources section

The Expanded Newborn Screening Newsletter August 2013 
- available for download from our resources section

The Expanded Newborn Screening Newsletter July 2013
- available for download from our resources section 

The Expanded Newborn Screening Newsletter June 2013 
- available for download from our resources section 

The Expanded Newborn Screening Newsletter May 2013
- available for download from our resources section 

The Expanded Newborn Screening Newsletter December 2012
- available for download from our resources section 

The Expanded Newborn Screening Newsletter November 2012
- available for download from our resources section 

The Expanded Newborn Screening Newsletter October 2012
- available for download from our resources section

  
Birth Prevalence report 
download PDF here








Newborn Screening Introduction

The rationale of newborn screening is to identify babies who may have rare but serious conditions.  Identifying these conditions through screening rather than when the child presents clinically can allow early treatment which can improve their health and prevent severe disability or even death.

Currently all babies in England are screened for phenylketonuria, congenital hypothyroidism, sickle cell disorders, cystic fibrosis and MCADD. This screening process takes place a few days after birth using blood obtained from a heel prick.

In several other countries additional rare disorders are also screened for. This screening uses existing laboratory technology (tandem mass spectrometry) so completing additional tests has only minimal costs associate with it. 

The feasibility of expanding the newborn screening programme to include a further five genetic conditions will shortly commence in the UK.   Six areas will participate including Yorkshire, the East Midlands, the West Midlands, the North west of England, 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 hydroxyacyl CoA dehydrogenase deficiency.

The pilot will be for a period of 1 year and will commence with samples received into the laboratory from16th July 2012. The evaluation is being led by CLAHRC for SY and the study design would aim to assess:

  • The robustness and reproducibility of underivitised assays in routine practice
  • The appropriate cut-off levels to be used to identify screen positive results
  • The case definition for positive patients
  • The operation of appropriate screening and diagnostic protocols in practice
  • The positive predictive value of the test for each of the five conditions
  • The impact of the additional screening on the associated clinical services
  • The likely cost of offering additional disorders within the existing program

Our findings and future directions

Data collection for the Expanded Newborn Screening evaluation finished on 19 July 2013. We have submitted a report on our findings to the National Screening Committee, who have opened a consultation on whether these disorders should be added to the panel of conditions that are routinely screened for in England. We are now awaiting the outcome of the consultation, which is due to end on 21 March 2014. We will report the outcome of the consultation on the Expanded Newborn Screening website, www.expandedscreening.org.

During the evaluation period we screened 437,000 babies, and of the 30 screen positive results 12 children were diagnosed with disorders, and there were 18 false positives. We have conducted a health economic study on screening for these disorders, and found screening to be cost saving for all five.

Short films about the disorders can be found under ‘Films’ in our Resources section, and on the Expanded Newborn Screening website, www.expandedscreening.org/

Useful Links

http://www.expandedscreening.org/site/home/start.asp


          More detailed information about the expanded newborn screening programme can be found here 



http://www.climb.org.uk/


Children Living with Inherited Metabolic Disease. A service for young people, adults, families & professionals

www.climb.org.uk


http://www.phgfoundation.org/

            Foundation for Genomics and Population Health 
           
www.phgfoundation.org
           The PHG Foundation worked with us on a review of current evidence to support expanded screening of newborn babies in the                  UK. Click here to download the review in pdf format

http://www.geneticalliance.org.uk/

           Genetic Alliance UK 
           
www.geneticalliance.org.uk


 http://www.screening.nhs.uk/