Newborn Screening for SMA

Last updated 28th October 2021

Now there is evidence that early diagnosis and treatment of SMA leads to better outcomes, stakeholders in the UK are working to change this decision and achieve NBS for SMA in the UK. SMA UK is actively working with Alliances both in the UK and Europe.


What’s happening about Newborn Screening for SMA in the UK?

The short answer is there is a lot of ‘behind the scenes’ activity and that SMA UK is very much part of this. You can expect to hear more in the very near future. In the meantime, this brief summary updates you on the activity so far.
 

Previously in 2021:

Sign the Petition to Introduce Newborn Screening for SMA in the UK

Launch of the European Newborn Screening Alliance Whitepaper on the need for NBS Programmes to include SMA
 

2020

31st August

SMA Europe and partners launch the European Alliance for Newborn Screening

14th February

SMA EXPERTS RECOMMEND NEWBORNS WHO HAVE 2, 3 OR 4 SMN2 COPIES, DIAGNOSED VIA NEWBORN SCREENING, SHOULD HAVE IMMEDIATE ACCESS TO TREATMENT
 

2019

23rd July:

Launched today by The Genetic Alliance, SMA UK is a signatory to the Patient Charter for Newborn Screening in the UK

18th February:
National programme for carrier or newborn screening for SMA not recommended by UK National Screening Committee (NSC)
 

2018

13th November:
SMA UK BUSY HEADING OUT AND ABOUT

11th September:
Our Response To The UK National Screening Committee Review of Screening for SMA

3rd August:
WHAT ARE YOUR VIEWS ON SCREENING NEWBORNS FOR SMA?

SMA and Screening: The Views of Families - The Imagining Futures Research

Dr. Felicity Boardman’s Project Report

In April 2017, Felicity was appointed to the Foetal, Maternal and Child Health Reference group of the National Screening Committee and will be directly inputting on the literature review for the next national screening consultation due soon. The review will include her research. You can read her report and what subsequent work is taking place, here.