Australia’s Health Ministers have agreed to add biotinidase deficiency as a target condition in Newborn Bloodspot Screening (NBS) programs nationally. States and territories will now prepare programs to implement screening for biotinidase deficiency. Additionally, Health Ministers agreed that the following conditions will be listed as non-target conditions in Australia’s NBS programs:
- Ethylmalonic encephalopathy
- Citrullinemia Type II
- 2-methylbutyrylglycinuria
- Congenital adrenal hyperplasia (11 beta-hydroxylase deficiency)
- Tyrosinemia, transient
- Hypermethioninemia
- 2-methyl-3-hydroxybutyric aciduria
- Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
- Duarte galactosemia
You can find more information about Australia’s NBS program on the Department of Health and Aged Care’s (DoH) website.
Fact sheets
Two NBS fact sheets are available on the DoH’s website under Resources:
- NBS – Our national decision-making pathway fact sheet
- NBS – Delivering consistency and expansion fact sheet
The NBS Delivering consistency and expansion fact sheet has been updated to reflect recent developments in NBS expansion.
