What Is Newborn Bloodspot Screening?
Every baby born in Australia (around 99%) receives a heel‑prick test within 48–72 hours of birth. A few drops of blood are collected and tested for serious, rare inherited conditions — often before any signs or symptoms appear.
🌍 By the Numbers: Real Impact
- Over 300,000 babies screened annually, covering nearly every newborn across Australia.
- Around 1 in every 1,000 babies is diagnosed with a rare condition that would otherwise have gone undetected.
- Newborn screening currently includes testing for over 30 serious conditions, including PKU, MSUD, GA1, MMA, CIT, HCU, and other protein and metabolism-related disorders.
🧬 A Legacy of Lifesaving Since the 1960s
- Australia introduced newborn screening in the 1960s, inspired by Dr. Robert Guthrie and his revolutionary dried blood spot method.
- Since then, millions of babies have been screened across the country — allowing early intervention and improved outcomes for countless families with a positive diagnosis
🩺 Ongoing Innovation
- Newborn screening is administered by state and territory governments, guided by a new national review process that ensures screening evolves to include new and relevant conditions.
🎥 Watch this short video about newborn bloodspot screening.
Featuring MDDA President Monique and her son Charlie as they share their personal story and highlight the importance of early detection.
💛 MDDA: Here for Life
Newborn screening is just the beginning of a lifelong journey for families living with protein metabolism‑related IEMs. The Metabolic Dietary Disorders Association (MDDA) provides vital support — including education, peer connections, advocacy, and resources for families.
Support our vision that ‘All individuals living with an IEM are leading a life at full potential, not limited by choice or resource.’