Maternity researchers in Dorset reach major milestone in screening of newborns for rare disorder

Research midwives at University Hospitals Dorset have reached an important milestone in their screening of newborns for rare disorder spinal muscular atrophy. (SMA)

1000 babies have now taken part in the screening - using the same blood sample taken for the standard day-five newborn test.

Screening for SMA as part of this test is already standard practice in many European countries, Australia and North America.

The research aims to detect the genetic disease after birth, before symptoms develop, so babies can receive early treatment.

The Trust is inviting women who are more than 18 weeks pregnant, or who have given birth in the last 28 days to get involved.

Affecting approximately 1 in 10,000 births, SMA is a genetic disease that progressively, and irreversibly, destroys the nerve cells in the brain and spinal cord that control movement.

Currently in the UK, babies are not diagnosed with SMA until they start to exhibit symptoms by which time irreversible nerve damage and muscle weakness has occurred

In children with the most common and severe type of SMA, 95% of all motor neurons can be lost before the age of six months.

Most children with this type of SMA, if untreated, are unlikely to survive beyond two years of age without permanent ventilator support. Many children who survive will not be able to sit or walk independently.

But there are treatments for SMA that have been shown to benefit children with certain types of SMA who are treated at an early stage.

The treatments have been approved by UK regulatory bodies and can be given on the NHS.

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Kerry Taylor, head of midwifery at UHD, said: “This is an exciting opportunity to be involved in a project which could really change and save lives.

"Research plays a vital role in medical science, and our maternity research team is proud to be involved in a study that strives to provide the very best care for parents and their babies, making a profound difference to families all over the UK.

“As midwives and parents, we normally only see the babies for the first few weeks of their lives.

"This makes it very special for us to be involved in something that could have a longer term impact on the baby’s future.”