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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.


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 condition can begin to present itself 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 left 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 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 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. 


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 participating hospitals and blood spots will be screened at the NHS Regional Genetics Laboratory.



If you would like to take part in this study and 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 then 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, which carries out all of the newborn and antenatal screening tests in the region. This sample will undergo DNA extraction and be tested for SMA at the NHS Regional Genetics Laboratory. The SMA test is a genetic test, otherwise known as a DNA test. The sample and data will be securely stored for 12 months and any leftover sample will be securely destroyed once the genetic analysis is complete.

For more information, please see patient information here