Wednesday, February 12, 2025

New testing regime for Victorian newborns

Victorian newborns will now be screened for an additional rare and serious genetic disorder as part of the State Government’s work to ensure babies get the treatment and care they need sooner.

Acting Minster for Health, Ingrid Stitt, today announced that testing for galactosaemia will be included in Victoria’s newborn bloodspot screening program – run by the Victorian Clinical Genetics Services.

“Early testing is an important tool for supporting the health of all Victorian babies, while also giving parents peace of mind,” said Minister Stitt.

“By expanding the newborn screening program, we’re ensuring that rare conditions like galactosaemia are spotted early so that babies get the treatment they need right from the start.”

Commonly referred to as the ‘heel prick test’, the newborn bloodspot screening program is designed to help parents get their children early treatment to rare health conditions.

The screening program will now test for a total 32 conditions and be offered to parents of all newborns within their first 72 hours of life, at no cost, said Minister Stitt.

Galactosaemia is a rare genetic condition that prevents the body from metabolising galactose, a type of sugar found in milk and other dairy products. The most serious form of galactosaemia occurs in approximately one in 50,000 babies and can cause life-threatening liver disease, infections, and cataracts if it is not diagnosed soon after birth.

Through screening, affected babies will be detected and treated early to prevent these symptoms. Treatment consists of restricting dietary galactose, including replacing dairy milk with lactose-free formulas.

The Victorian Government also supported the expansion of the newborn bloodspot screening in 2024 and 2023, investing more than $1 million to add testing for spinal muscular atrophy, severe combined immunodeficiency and congenital adrenal hyperplasia.

The program is offered to the parents of all newborns within their first 72 hours of life, at no cost. In 2024, more than 75,000 Victorian newborns were screened.

Newborn bloodspot screening began in Victoria in 1966, with more than 3.6 million babies screened to date – one in 1,000 are found to have a rare but serious condition such as congenital hypothyroidism and cystic fibrosis.

More information on the program is available at betterhealth.vic.gov.au.

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