Approximately 1 in 50 people carry one faulty copy of the SMN1 gene.
If you and your partner are both carriers of a faulty SMN1 gene, there is a one in four (25%) chance you will have a child with SMA.
Genetic carrier screening for SMA is available in Australia. Speak to your doctor, obstetrician or genetic counsellor for more information.
From 1 November 2023, genetic carrier screening for SMA, Cystic Fibrosis and Fragile X syndrome was made freely available through Medicare to Australians who are pregnant or planning a pregnancy and their reproductive partner, helping them to make more informed reproductive choices. For those people who do not meet these Medicare criteria, testing is available at a cost. Speak to your testing provider for further information.
If genetic carrier screening shows you and your partner are at risk of passing SMA onto your child, rest assured this does not mean you are not able to have a baby – it just means you need to do some extra planning. Your healthcare team will guide you through options for current and future pregnancies, including family planning options such as in vitro fertilisation (IVF).
SMA is caused by a problem with a gene called Survival of Motor Neuron 1 (SMN1). Everyone has two copies of the SMN1 gene, however, some people might have one working copy and one ‘faulty’ copy of the gene. These people are called ‘carriers’. Carriers do not have SMA, because of their one working copy of the gene.