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The aim of this population-based research study on newborn genetic screening for spinal muscular atrophy (SMA) is to evaluate the uptake and feasibility in the UK.

ABOUT THE STUDY

 Spinal muscular atrophy (SMA) is a rare, but treatable, genetic disease affecting approximately 1 in 10,000 births, and it typically presents in infancy and early childhood. The conditions can begin within the first 3 months of a child’s life. In children with the most common and severe type of SMA, 95% of all motor neurons can be lost before the age of 6 months. Most children with this type of SMA, if untreated, will not survive beyond 2 years of age without permanent ventilator support. Many children who survive will not be able to sit or walk independently.

Our newborn screening study aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity.

SMA is not currently screened for as part of the newborn screening programme. This screening test can be done on the blood spot that is already being taken as part of the standard newborn screening programme. This means no extra blood samples will be needed.

 We hope that the findings from this study will help the National Screening Committee decide whether SMA screening should be included in the UK newborn screening programme.  

 

WHO CAN PARTICIPATE IN THIS STUDY?

We are inviting women who are more than 18 weeks pregnant, or have given birth in the last 28 days, to be part of this study with their newborn babies.

The research study is being carried out by staff at the four Hospital Trusts in the Thames Valley, and blood spots will be screened at the NHS Oxford Regional Genetics Laboratory. 

 

what to expect

If you would like to take part in this study and to have this additional screening test for SMA performed on your baby’s routine blood sample, we will ask you to sign a consent form. We will ask you to provide us with the following information:

  • your name, contact details and NHS number
  • your expected date of delivery
  • whether your pregnancy/birth is single or multiple (and if you are having twins or triplets, which baby/babies you give your consent for)

The study team will securely store this information in their database.  No-one outside the study team will have access to this information.

This research will use leftover blood from your baby’s newborn blood spot (Guthrie card) taken in the first 5 days after birth. No additional blood samples will be required. If you decide to take part, a spare bloodspot from your baby’s card will be collected from the NHS Screening Laboratory at the John Radcliffe Hospital, which carries out all of the newborn and antenatal screening tests in the Thames Valley. This sample will undergo DNA extraction and be tested for SMA at the NHS Oxford Regional Genetics Laboratories at the Churchill Hospital. The SMA test is a genetic test, or DNA test. The sample and data will be securely stored for 12 months and any left over sample will be securely destroyed once the genetic analysis is complete.

For more information, please see patient information here.

 

Contact us

The SMA NBS Team:

Level 3, Academic Centre

STRONG Group Offices

John Radcliffe Hospital

Oxford OX3 9DU

Phone: +44 7880786001

Email: SMAnewbornscreening@ouh.nhs.uk