In a groundbreaking Australian initiative, this two-year pilot study introduced screening for Spinal Muscular Atrophy (SMA) and Primary Immunodeficiencies (PID) for babies born in NSW and ACT hospitals.

SMA is a rare genetic condition, affecting 1 in 10,000 births, leading to muscle weakness and infant mortality, making it the primary genetic cause of infant death. PID affects 1 in 40,000 births, weakens the immune system, and elevates infection risk, often leading to fatal outcomes within the first year unless detected early for treatment through stem cell transplants.

Newborn screening is crucial for early detection, diagnosis, and treatment, resulting in significantly improved outcomes and preventing severe complications and fatalities. This pilot study seamlessly integrated SMA and selected PID screening into the existing newborn screening program, which already covers over 25 medical conditions such as cystic fibrosis and congenital adrenal hyperplasia.

Moreover, it enhanced the newborn screening process in NSW/ACT and offered valuable insights for other regions and countries planning to expand their screening procedures to include SMA and PID. The study also gathered comprehensive longitudinal follow-up data, shedding light on the impact of early detection of SMA and PID on both outcomes and the healthcare system.

Facilities

Department of Neurology, Sydney Children’s Hospitals Network, Australia
NSW Newborn Screening Program, Sydney Children’s Hospitals Network, Australia
School of Women’s and Children’s Health, University of New South Wales, Australia