Heel prick test for babies now able to check for new condition in Victoria

The test which screens babies for genetic conditions by pricking their heel to get a tiny sample of blood will now be able to check for a new condition.

The “heel prick test” routinely offered to all newborns in Victoria is being expanded from Wednesday to include screening for another rare genetic disorder.

About one in 50,000 babies are born with the condition called galactosaemia that stops them processing a particular sugar found in milk and other dairy products.

If not treated soon after birth experts warn it can cause life-threatening liver disease, kidney failure, infections and even cataracts.

Babies with galactosaemia are treated by being fed soy formula, which is lactose-free, to avoid dairy products.

This latest test brings the number to 32 conditions that are screened from a single heel prick test as part of Victoria’s newborn bloodspot screening program.

The program is run by the Victorian Clinical Genetics Services and parents can choose to have their baby tested.

The test is usually done by a midwife who takes a tiny pinprick of blood from a baby’s heel soon after birth.

Midwife Kate Moyle does the heel prick test on Sahar Khajavee watched closely by mum Quyen Khajavee. Picture: David Caird

Kate Moyle is a midwife at Joan Kirner Women’s and Children’s at Sunshine Hospital. She said the heel prick test was a method of screening that had been done for many years.

“But being able to add to the disorders we test for is great because it means we don’t have to prick the baby multiple times or bring them back into hospital for testing,” she said.

“They’re all really rare genetic disorders that we’re testing for, but the only way to know if the baby has them is with this blood test.

“So while doing the test we were already doing, we’re able to screen for more disorders, and when they’re picked up early there can be treatment given which means less complications later in life.”

Conditions tested include cystic fibrosis, congenital adrenal hyperplasia and other rare genetic conditions.

Acting Victorian Health Minister Ingrid Stitt said early testing was an important tool for supporting the health of all Victorian babies and giving parents peace of mind.

“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,” she said.

Mum Quyen Khajavee kisses newborn daughter Sahar Khajavee after a heel prick test at the Joan Kirner Women’s and Children’s at Sunshine Hospital. Picture: David Caird

Newborn Sahar Khajavee who was born at Joan Kirner Women’s and Children’s Hospital at Sunshine Hospital this week has just had her heel prick test.

“I’m so grateful to have this testing available to me and my baby,” her mum Quyen Khajavee said.

“I have family in other countries who don’t have access to this sort of thing. It really gives peace of mind for our family.”

For more information on the program visit betterhealth.vic.gov.au

Originally published as Heel prick test for babies now able to check for new condition in Victoria