Newborn Screening Program Pilot for Spinal Muscular Atrophy and Primary Immunodeficiency in NSW & ACT

Project Overview

In an Australian first, this two-year pilot study will see all babies born in NSW and ACT hospitals offered screening for Spinal Muscular Atrophy (SMA) and Primary Immunodeficiencies (PID).

SMA is a rare inherited condition that causes muscle weakness and wasting. It occurs in 1 in 10,000 births and is leading genetic cause of infant death.

PID occurs in 1 in 40,000 births and causes the weakening of the immune system, increasing the risk of infection. If infection occurs, then it is often fatal in the first year of life, unless PID is detected early and stem cell transpant is offered as treatment.

Newborn screening programs allows for the early detection, diagnosis and treatment.  It can lead to significant improved outcomes and prevent serious complications and death.

This pilot study will add SMA and some PID to the existing new bornscreening program, which  currently includes more than 25 medical conditions such as cystic fibrosis and congenital adrenal hyerplasia. It will evaluate whether its feasible and beneficial to add SMA and PID to the existing newborn screening program in the long term.

Furthermore it will faciliate further improvements to the newborn screening process in NSW/ACT and may provide useful information for other countries and jurisdiction that plan to establish or adapt their screening procedures to include SMA and PID. It will also collect comprehensive longitudinal follow up data to provide a better understanding of the impact of newly detected newborns with SMA and PID on 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)

Summary

In an Australian first, this two-yeat pilot study will see all babies born in NSW and ACT hospitals offered screening for Spinal Muscular Atrophy and some Primary Immunodeficiencies.

Lead Investigators

  • Michelle_Farrar@2x

    Associate Professor Michelle Farrar

    Paediatric Neurology, School of Women’s and Children’s Health, University of NSW Sydney & Lead, Neuromuscular Diseases Clinical and Research Program Sydney Children’s Hospital Network
  • Veronica_Wiley@2x

    Associate Professor Veronica Wiley

    Director/Principal Scientist, NSW Newborn Screening Program, The Sydney Children’s Hospitals Network

Team

  • Associate Professor Georgina M Chambers

    Director and Scientia Fellow, National Perinatal Epidemiology and Statistics Unit (NPESU), Centre for Big Data Research in Health and School of Women’s and Children’s Health, University of New South Wales (UNSW Sydney)