West Midlands laboratory first in England to offer Newborn Blood Spot Screening for Spinal Muscular Atrophy (SMA)
Birmingham Women’s and Children’s (BWC) NHS Foundation Trust will be the first in England to begin screening babies for a rare but serious genetic condition from birth, giving them the best chance of successful treatment before symptoms appear.
Spinal Muscular Atrophy (SMA) screening will start at the Trust’s West Midlands screening Laboratory in October, with the government expanding the programme so all babies born across the region will be included from October next year.
The serious inherited neuromuscular condition affects the nerves controlling muscle movement. It can significantly impact a baby's ability to move, speak, swallow, and breathe. Early diagnosis is critical, as timely treatment can greatly improve health outcomes and quality of life.
Dr Philippa Goddard, Consultant Biochemist & Director of Newborn Screening at BWC NHS Trust, said: “The entire NSBG team at Birmingham Children's Hospital has worked incredibly hard to prepare for the implementation of newborn screening for SMA. We are grateful to every member of the team for their dedication, expertise and commitment to delivering an exemplary newborn screening service.
“We are proud to be the first laboratory to go live with SMA screening and to have the opportunity to identify babies with SMA at the earliest possible stage, giving them the best chance to benefit from timely treatment and improved outcomes.”
Former Little Mix singer Jesy Nelson, who has campaigned for the change after both her twins were diagnosed with the condition, said: “After years of campaigning, it means so much to see the heel-prick test for SMA begin rolling out from October, with implementation continuing throughout 2027 until every newborn screening laboratory across the UK is offering the test.
“Today is a day of hope. Knowing that future families will have access to early diagnosis and the opportunity for the best possible outcomes is something I’m incredibly proud to have supported. This is a victory for every family affected by SMA. Whilst it can’t change the future of our children, I know it marks the beginning of a brighter future for future SMA families.”
The programme will be carried out through NHS services under existing NHS and National Institute for Health and Care Research (NIHR) research governance processes, with the research element funded by the NIHR.
In the West Midlands, newborn blood spot screening is provided by Birmingham Women’s and Children’s NHS Trust and is one of the UK's leading newborn screening laboratories.
The existing newborn blood spot screening panel currently includes seven inherited metabolic disorders, Phenylketonuria (PKU), Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), Maple Syrup Urine Disease (MSUD), Isovaleric Acidaemia (IVA), Glutaric Aciduria Type 1 (GA1), Homocystinuria (HCU), and Hereditary Tyrosinaemia Type 1 (HT1), as well as Sickle Cell Disease (SCD), Cystic Fibrosis (CF), Congenital Hypothyroidism (CHT), and Severe Combined Immunodeficiency (SCID).
This vital screening programme enables the early identification of serious but treatable conditions that may not be apparent at birth. Early detection allows prompt intervention, helping to prevent significant health complications and improve long-term outcomes for affected children.