12/03/2026
When Sophie was pregnant with Gabriel, she enrolled in the NewbornsInSA study through the Women's and Children's Health Network. The study screens newborns for a range of rare but serious health conditions in the first days of life.
“I was in two minds about enrolling initially, but when they told me that it wouldn’t require any additional heel pricking and was completely free, it was a no brainer for me,” says Sophie.
Using the samples from his standard newborn screening, SA Pathology identified that Gabriel had a condition called Aminoglycoside Sensitivity, which increases the risk of deafness if certain antibiotics are used.
Thanks to the NewbornsInSA study, the family received this diagnosis shortly after birth, giving medical staff the chance to consider alternative antibiotic treatments from the start.
“As soon as we were notified of a positive result, we were put in immediate contact with a doctor at the Women’s and Children’s Hospital. Not only have they supported Gabriel, but they’ve also looked after the rest of our family by testing us for the condition too.”
As the condition is usually inherited through the maternal line, Gabriel’s mother and two big brothers were also invited to undergo testing, with all receiving the same diagnosis.
“I really encourage other parents to enrol in the program and take advantage of this additional testing while it’s available.”
Enrolments are open now and expected to close mid-2026. South Australians are eligible to enrol their baby during pregnancy or up to 14 days after birth if they are at least 18 years of age. Babies need to be born in South Australia and have standard newborn screening.
For more information and to enrol in this study, visit brnw.ch/21x0B71