Newborn Screening Result
Your baby has received a screen positive result for spinal muscular atrophy, also called SMA.
Parents will often ask what was found and what this means.
The Newborn Screening Test
After your child’s birth, a midwife asked if it was ok to do a newborn screen test for your baby. This tests for rare but serious conditions that can be helped through treatment if found early.
Your baby had a small amount of blood collected from a heelprick. This was sent to a lab where all the conditions on the newborn screening panel were tested. SMA has been on the national NBS panel in Australia since 2022, and New Zealand in 2024.
Your baby’s result means they most likely have SMA.
This is a rare condition that most people often do not know much about.
It is a serious condition of the nerves and muscles involved in muscle strength and movement. But, living with SMA is not the same today as it was even a few years ago. Treatments now exist, and are most helpful when started early. This is why SMA is part of newborn screening. So the most helpful choices can be made for your baby quickly.
I’ve received a screen positive result for my baby… what does this mean?
After the screening result
When a positive screen is found, healthcare workers will contact parents. These workers are most often part of a specialist team caring for kids with SMA.
This is a very reliable test. But they still have to double check with a second blood test. This test is often called a confirmatory test or diagnostic test. You will be quickly directed to a centre where this occurs, and where your healthcare team can examine your baby and provide information, care and support.
From Screening to Treatment
Below is a broad overview of the major steps involving healthcare services, between the moment your child had a blood spot collected after birth, through to the moments after a diagnosis has been confirmed.
A little more about spinal muscular atrophy
- Other words to describe SMA include ‘neuromuscular disorder’, or ‘motor neuron disease’.
- It affects the nerves in the spinal cord that control movement. In SMA, muscles shrink or atrophy, giving the name spinal muscular atrophy. This is most commonly evident during childhood.
- Symptoms can vary, and every child with SMA is different. More testing can give more information about how SMA may impact your child.Without treatment, symptoms can get worse and affect voluntary movement, breathing and swallowing. Therefore, newborn screening positive results are really important to allow treatment as early as possible.
- Some information online and via social media may not be up to date and may not apply to you and your child.
