Victorian newborns will be the first in Australia to be screened for an additional rare but serious health condition.
Health Minister Mary-Anne Thomas announced in October that biotinidase deficiency would be added to the Newborn Bloodspot Screening Program.
Commonly referred to as the heel prick test, the screening program will now test for 34 conditions, helping parents access early treatment and support for rare health conditions so their children can live long, healthy lives.
Biotinidase deficiency is an inherited metabolic disorder where the body cannot recycle biotin, leading to a deficiency that, if left untreated, can cause neurological issues like seizures, developmental delays, hair loss, and hearing and vision problems.
The condition can be treated, so early diagnosis through the newborn bloodspot screening program will help prevent serious health consequences.
Its addition will also enable the Murdoch Children’s Research Institute (MCRI) to obtain population-based estimates of this rare condition at a local level.
Internationally, it is reported that about one in 60,000 babies will be diagnosed with the deficiency in countries that screen for the condition.
The screening is offered to parents of all newborns within their first 72 hours of life, at no cost.
In 2024, more than 75,000 newborns were screened – nearly all babies born in Victoria.
The Newborn Bloodspot Screening Program began in Victoria in 1966 and has screened more than 3.6 million babies to date, with one in 1000 found to have a rare but serious condition, such as congenital hypothyroidism and cystic fibrosis.
