Newborn screening for SMA:
How earlier diagnosis can change lives
Date: 21 October 2022
For people living with a rare progressive genetic disorder like spinal muscular atrophy (SMA), early diagnosis could be the difference in a person’s future quality of life.1–3,4 Newborn screening is a genetic test that allows parents and healthcare providers to identify if a baby is born with certain conditions even before symptoms arise.4 But what could this mean for babies with SMA?
Why is early diagnosis important in SMA?
SMA is a rare genetic disease that can lead to a progressive loss of muscle.1,3 The symptoms are not typically visible in the first months of a baby’s life, and so it can often be diagnosed late.3,4 Unfortunately, by then, a rapid loss of muscle function has already begun that can affect a baby’s ability to sit, crawl, swallow and even breathe.1–3 If SMA is detected and diagnosed earlier using newborn screening, it is possible to treat SMA earlier to give the baby the best possible chance at life.3–5 For babies with SMA, every day counts.4 The earlier babies are diagnosed with SMA, the quicker they can be treated, before irreversible damage has occurred.3–5
The addition of SMA to newborn screening tests has improved the possibility of SMA being diagnosed early.6 This makes it possible for caregivers to have conversations with their doctors about SMA treatment before babies show symptoms, giving babies with SMA new opportunities.4
“Newborn screening can detect patients affected by SMA before symptom onset and enable early therapeutic intervention”4,7
How does newborn screening work?
Newborn screening is carried out using a simple blood test (also known as a heel-prick test) that typically takes place within the first 2–4 days after a baby is born.4,8 This involves, a small amount of blood being taken from the baby’s heel, which is used to screen for a number of diseases.5,6 The screening tests are highly accurate, meaning that incorrect test results rarely occur.4–6
- In babies with SMA Type 1, up to 95% of nerves that control muscles are lost within 6 months of life5,10
- Without the use of newborn screening, the average age for babies with SMA Type 1 to receive a diagnosis is 189 days old3
- With a newborn screening test, SMA can be diagnosed within 9–23 days of the baby’s life, meaning babies could receive treatment 166 days earlier than without6
What is the current situation with newborn screening for SMA?
There is growing recognition of the need for newborn screening in SMA, and many national governments around the world are discussing the possibility of adopting this process.9 However, newborn screening programs for SMA vary widely from country to country:11
- A number of pilot programs for newborn screening are currently underway in Europe12–14
- As of Summer 2022, Germany, Norway, Belgium, the Netherlands and Poland actively screen all newborns for SMA as part of their national newborn screening program. Italy, Serbia and Slovenia have approved screening for SMA pending implementation15
- In the USA, 48 out of 50 states now screen for SMA, which means 98% of newborns are screened for the disease16
There is also a drive from organizations such as the European Alliance for Newborn Screening in SMA, who demand that newborn screening programs in all European countries should test for SMA by 2025.4
If you have concerns regarding SMA, act now and speak to your doctor. To find out more about the signs and symptoms of SMA, click here5