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.1–4 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

Fast facts:

  • In babies with SMA Type 1, up to 95% of nerves that control muscles are lost within 6 months of life9
  • 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.10,11 Several newborn screening programs have been implemented worldwide, however, these programs for SMA vary widely from country to country:11

  • A number of pilot programs for newborn screening are currently underway in Europe, and several European countries actively screen all newborns for SMA as part of their national screening program4,12,13–14
  • Alongside Europe, newborn screening programs and pilots are currently in place in other countries across the world, including Australia, Canada, Japan, Taiwan and United States of America11
  • In the USA, 48 out of 50 states now screen for SMA, which means 99% of newborns are screened for the disease15

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

The future of newborn testing worldwide

The growing need for newborn screening in SMA has resulted in more organizations helping to develop newborn screening programs.4,16–19 The number of newborns expected to be screened yearly for SMA is expected to steadily increase, with some countries screening up to 24% of newborns by 2025.11

While caregivers and healthcare professionals recognize challenges with diagnosing infants with SMA through newborn screening, the potentially life changing benefits made possible by newborn screening largely outweighed concerns.20

The increasing number of countries implementing newborn screening programs may help to urge global health authorities move towards change. Enabling the ~14,000 babies born with SMA every year worldwide,11,21–23 to receive earlier treatment and care, giving them and their families the best chance of positive outcomes.5,24–26

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