Newborn babies in the region now screened for SMA

Newborn babies in Birmingham and the surrounding region are now being tested for spinal muscular atrophy, a rare and serious inherited condition, after the laboratory that carries out newborn screening for the area became the first in England to begin offering the test.

The screening started on Thursday 1 October at the regional newborn screening laboratory run by Birmingham Women's and Children's NHS Foundation Trust. It covers babies across the region, including Shropshire, Staffordshire, Herefordshire, Warwickshire and Worcestershire.

What SMA is

Spinal muscular atrophy, known as SMA, affects the nerves that control muscle movement. It can seriously affect a baby's ability to move, swallow and breathe, and in its most severe form, without treatment, many children do not survive beyond early childhood.

It is caused by a fault in a gene that makes a protein which nerve cells need to survive. Children inherit the condition when both parents pass on a faulty copy of the gene, often without knowing they carry it.

Why early diagnosis matters

New treatments, including gene therapy, can transform the outlook for children with SMA, but they work best when given before symptoms appear and nerve cells are lost. At the moment, many babies are diagnosed only after their parents notice problems, by which time irreversible damage may already have happened.

Dr Philippa Goddard, consultant biochemist and director of newborn screening, said: "Early diagnosis can enable faster access to specialist treatment, which can make a life-changing difference."

A national rollout

The region is the first to start, and all babies born in England are expected to be included by October 2027. The programme is being delivered through existing NHS services, with the National Institute for Health and Care Research funding the research element.

Giles Lomax, chief executive of the charity SMA UK, said: "Thousands of babies each year will have the opportunity to be diagnosed earlier and access life-changing treatment before irreversible damage occurs."

A campaign by families

Families affected by SMA have campaigned for years for the condition to be added to the newborn screening programme, as it already is in many other countries. The singer Jesy Nelson, formerly of Little Mix, has spoken publicly in support of screening after both of her twin daughters were diagnosed with SMA.

How newborn screening works

In the first week of life, usually when a baby is about five days old, a midwife takes a small sample of blood by pricking the baby's heel. The blood spots are sent to a laboratory and tested for a number of rare but serious conditions, including sickle cell disease, cystic fibrosis and congenital hypothyroidism, as well as several inherited metabolic conditions.

Most babies are found not to have any of the conditions. Parents of babies who need further tests are contacted quickly and referred to specialist teams.

What parents need to do

Parents do not need to do anything differently. The SMA test will be carried out on the same blood sample as the other tests, and midwives will explain the screening when the sample is taken. Parents can ask questions at any time and can choose not to have their baby tested.

A specialist centre

Birmingham Children's Hospital is a specialist centre for children with neuromuscular conditions, and babies diagnosed through the new screening will be able to be referred quickly to expert teams for treatment and support.