Newborn screening for Galactosaemia: Providing an earlier diagnostic pathway for Victorian babies
Swenisha Victoria
Communications Officer
On Monday 20 January, Galactosaemia was officially added to Victoria’s Newborn Bloodspot Screening (NBS) program.
This addition will help babies receive treatment quickly and improve their health outcomes in the long term.
What is galactosaemia?
Galactosaemia is a rare genetic condition that prevents the body from breaking down galactose – a sugar found in milk and other dairy products.
The most serious form of galactosaemia occurs in approximately 1 in 50,000 births. If not diagnosed early, it can cause liver disease, intellectual disabilities and cataracts.
Since a baby’s primary diet is milk, detection of galactosaemia is vital to ensure babies with the condition are identified and put on lactose-free diets.
What is Newborn Bloodspot Screening (NBS)?
NBS is a national program that identifies babies at risk of rare, but serious medical conditions.
Parents are offered a screen within 72 hours of their baby’s birth, at no cost.
A midwife or nurse pricks a baby’s heel to collect a few drops of blood on a special card (Guthrie card). These cards are then analysed to identify babies at risk of a number of conditions that can affect normal development and life expectancy.
This program is fully funded by the state government, and VCGS performs this service for all Victorian babies.
What does this addition mean for the NBS program?
The addition of galactosaemia to Victoria’s NBS program means we now test for 32 conditions.
The federal government has announced funding to standardise and add new conditions to the NBS panel of every state.
This funding will ensure every baby across Australia will receive the same service no matter where they are born.
Read the media release from the Acting Minister for Health.
Read the article in the Herald Sun.