Conditions screened in Australia's NBS programs
Newborn bloodspot screening tests for a number of conditions, outlined below. We are working with states and territories to expand Australia's NBS programs, and make sure all babies born have access to the same screening.
Condition type | Condition name |
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Endocrine disorders |
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Metabolic disorders |
Amino acid disorders
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Fatty acid oxidation disorders
|
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Organic acid disorders
|
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Other disorders |
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Condition | WA | SA / Tas / NT | Qld / NT* | NSW / ACT | Vic | |
---|---|---|---|---|---|---|
Metabolic disorders |
Remethylation defects (MTHFR, MTR, MTRR, Cbl D v1, Cbl G deficiencies) |
Yes | Yes | Pending* | Pending* | Yes |
Other disorders | (Classic) galactosemia | Yes | Yes | Yes | Yes | Pending* |
Other galactosemias (epimerase, kinase, mutarotase deficiencies) | Yes | Yes | Yes | Yes | Pending* | |
Spinal muscular atrophy (SMA) | Yes | Pending^ | Yes# | Yes | Pending# | |
Severe combined immunodeficiency (SCID) | Yes# | Pending^ | Yes# | Yes | Pending# | |
|
Condition | More details |
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X-linked adrenoleukodystrophy (X-ALD) | MSAC application 1710 |
Sickle cell disease and beta-thalassemia | MSAC application 1737 |
Condition type |
Condition name |
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Lysosomal storage disorders |
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Metabolic disorders
|
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National policy framework
This framework provides information for experts involved in newborn bloodspot screening, and families, about how the programs operate. It also includes the screening criteria that guide the assessment of new conditions for inclusion in Australia’s NBS programs.
Please note: the decision-making pathway outlined in the policy framework (Policy Area 5, Part 1) is no longer in use because the committees referenced in the assessment process no longer exist. The process currently uses the expertise of the Medical Services Advisory Committee. This pathway is under review. However, the decision-making criteria (Policy Area 5, Part II) continues to guide consideration of the benefits and harms of newborn screening.
We will review this framework as part of our work to expand newborn bloodspot screening programs.