Newborn screening for SMA commences

Recently, Health Minister Brad Hazzard announced that babies born in NSW and ACT will be offered bloodspot screening for the genetic disease Spinal Muscular Atrophy (SMA) and Primary Immunodeficencies (PID), a group of immune deficiency disorders.

In an Australian first, the new screening program will be funded for two years by the NSW Government through Paediatrio, a research collaboration between Sydney Children’s Hospitals Network, Children’s Medical Research Institute and the Children’s Cancer Institute.

Both screening tests are conducted using the routine heel prick tests that are already in place for over 20 conditions, such as cystic fibrosis, primary congenital hypothyroidism, phenylketonuria and congenital adrenal hyperplasia. 

Dr Michelle Farrar, paediatric neurologist at Sydney Children’s Hospital Network says that "early detection of these rare and life-threatening conditions will improve access to clinical trials and early treatment."

Need to know:

  • SMA is the leading genetic cause of infant death in Australia
  • The diseases occurs in one in every 10,000 births
  • SMA affects motor nerve cells in the spinal cord, causing progressive muscle weakness through to adulthood
  • PID covers a range of immune system disorders and occurs in 1 in 40,000 births
  • PID is usually fatal in the baby’s first year of life
  • If a baby returns a positive screening test novel clinical trials may be available. These will be discussed with the family.


If you are concerned about your newborn, please contact your GP.