Milestone moment for maternity research
Maternity research midwives at University Hospitals Dorset (UHD) have reached an important marker in their study of screening new-borns for a rare disorder, spinal muscular atrophy (SMA).
The study, which recently secured its 1000th participant at UHD, aims to make it possible to detect SMA shortly after birth and before symptoms develop, so that affected babies can receive treatment at the earliest possible opportunity.
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.
However, 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.
As part of the research study, the SMA screening is carried out using the same blood spot sample taken for the standard day five new-born screening test. This means no extra blood will be needed. Screening for SMA as part of this test is already standard practice in many European countries, Australia and North America.
UHD's maternity research midwives
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.”
UHD is inviting women who are 16 and over, more than 18 weeks pregnant, or have given birth in the last 28 days to be part of this study with their new-born babies. Taking part is voluntary, and will help establish the feasibility, uptake and effectiveness of the screening for SMA in the UK. For more information, head here.
