Babies born in NSW and the ACT are being offered screening for Spinal Muscular Atrophy (SMA), which is a leading genetic cause of infant death.
The screening is a NSW government $2 million initiative.
The routine heel prick screening will also now include Primary Immunodeficiencies (PID) – a range of serious disorders that weaken the immune system that occur in one in 40,000 births and are usually fatal in a baby’s first year of life.
SMA occurs in one in every 10,000 births and affects motor nerve cells in the spinal cord, causing progressive muscle weakness through to adulthood.
Sydney Children’s Hospitals Network Paediatric Neurologist Dr Michelle Farrar said early screening for SMA and some PID conditions will greatly improve outcomes.
“It will help detect these rare and life-threatening conditions in newborns to improve access to clinical trials and early treatment.
“One approach to treatment is gene-replacement therapy, given as a one-off dose before symptoms arise and could save a baby’s life.”
