26 June 2022

In an Australian first, all NSW and ACT babies will be offered testing for two rare but potentially fatal genetic disorders, thanks to a NSW Government boost of $1.3 million each year.

From 1 July 2022, parents of all new babies in NSW and the ACT will be offered free tests for both Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) within 48-72 hours of their baby’s birth.

Health Minister Brad Hazzard said the NSW Government is permanently adding the two tests to the NSW Newborn Screening Program following a successful four-year trial as part of a research pilot program at the Sydney Children’s Hospitals Network.

“NSW is leading the way in funding newborn screening to ensure treatments can be provided as early as possible to halt the debilitating, sometimes fatal, impact of these disorders,” Mr Hazzard said.

“The screening tests will be provided to around 100,000 babies each year, saving the lives of up to 13 newborns likely to have these genetic disorders, including 10 from SMA and three from SCID.

“I urge other states and territories to screen newborns for both these genetic disorders as we are doing in NSW to give babies with SMA or SCID the best chance of survival.”

SMA occurs in one in 10,000 births and causes progressive muscle wastage and weakness. It is the leading genetic cause of infant death and, without treatment, newborns have a life expectancy of around nine months.

SCID occurs in one in 40,000 births and results in a weakened immune system. It is usually fatal in a baby’s first year of life due to infection. However, most babies with the disorder (around 94 per cent) will survive if they are provided life-saving stem cell treatment before they are three and a half months old.

“With newborns receiving these tests for SMA and SCID in their first three days, parents can have greater confidence their baby will thrive in their first year of life,” Mr Hazzard said.

For an overview of the panel of tests offered by the NSW Newborn Screening Program, please visit the SCHN website.