What is screened in the program

Learn about conditions screened in your state and territory, and the assessment of new conditions for inclusion in Australia’s newborn bloodspot screening programs.

Conditions screened in Australia's NBS programs

Newborn bloodspot screening (NBS) 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 typeCondition name
Endocrine disorders
  • Congenital adrenal hyperplasia (21-hydroxylase deficiency)
  • Primary congenital hypothyroidism
Metabolic disorders

Amino acid disorders

  • Argininosuccinic aciduria
  • Citrullinemia type I
  • Homocystinuria
  • Maple syrup urine disease
  • (Classic) Phenylketonuria (PKU) - including hyperphenylalinemias (PAH and pterin enzyme deficiencies)
  • Tyrosinemia types II and III 
  • Remethylation defects (MTHFR, MTR, MTRR, Cbl D v1, Cbl G deficiencies)

Fatty acid oxidation disorders

  • Carnitine acylcarnitine translocase deficiency
  • Carnitine palmitoyltransferase I deficiency
  • Carnitine palmitoyltransferase II deficiency 
  • Carnitine uptake defect 
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyx-a
  • Trifunctional protein deficiency 
  • Very long-chain acyl-CoA dehydrogenase deficiency

Organic acid disorders

  • 3-hydroxy-3-methylglutaric aciduria
  • β-ketothiolase deficiency
  • Glutaric acidemia type II (multiple acyl-CoA-dehydrogenase deficiency)
  • Glutaric acidemia type I
  • Holocarboxylase synthase deficiency 
  • Isovaleric acidemia 
  • Methylmalonic acidemia (cobalamin A&B disorders) 
  • Methylmalonic acidemia (cobalamin defects C,D v2) 
  • Methylmalonic acidemia (methylmalonyl-CoA Mutase)
  • Propionic acidemia 
Other disorders 
  • Cystic fibrosis
  • Spinal muscular atrophy (SMA)
  • Severe combined immunodeficiency (SCID)
  • Approved by health ministers on 5 June 2023.

Conditions agreed and under implementation

 

Condition

 

WASA / Tas / NTQld / NTNSW / ACTVic
Metabolic disordersTyrosinemia type I*YesPendingPendingYesPending
GAMT (guanidinoacetate methyltransferase) deficiency*PendingPendingPendingPendingYes
Other disorders(Classic) galactosemiaYesYesYesYesPending
Other galactosemias (epimerase, kinase, mutarotase deficiencies)YesYesYesYesPending
  • Pending refers to those conditions for which a commitment has been made to screen as a target condition, but screening has not yet commenced.
  • * Agreed for implementation by health ministers on 19 April 2024.

Conditions currently under review, not currently screened

The Medical Services Advisory Committee (MSAC) provides independent advice on whether a condition is suitable to add to Australia’s NBS programs using the best available evidence and in line with MSAC's terms of reference.

This advice will be provided to all state and territory governments and Health Ministers, to inform a decision regarding implementing a condition/s in NBS programs. This decision is informed by MSAC’s advice and underpinned by the Newborn Bloodspot Screening Policy Framework.

See our fact sheet for more information about the NBS national decision-making pathway.

ConditionStatus
X-linked adrenoleukodystrophy (X-ALD)

MSAC advice available.

Outcome
The Medical Services Advisory Committee (MSAC) supported adding X-ALD to Australia’s NBS programs. For more information, see MSAC application 1710.

Next steps

This advice has been provided to governments to inform a decision regarding implementing screening for X-ALD.

Sickle cell disease and beta-thalassemia

MSAC advice available.

Outcome
MSAC supported adding sickle cell disease to Australia’s NBS programs and acknowledged that NBS for sickle cell disease can also detect beta-thalassaemia and potentially other haemoglobinopathies. For more information, see MSAC application 1737.1.

Next steps
This advice has been provided to governments to inform a decision regarding implementing screening for sickle cell disease.

Pompe diseaseReferred to the MSAC health technology assessment process. For further information, see MSAC application 1774.
Mucopolysaccharidosis type I (MPS I)Referred to the MSAC health technology assessment process. For further information, see MSAC application 1775.
Mucopolysaccharidosis type II (MPS II)Referred to the MSAC health technology assessment process. For further information, see MSAC application 1776.

Conditions identified for NBS technical advice

Condition typeCondition name
Lysosomal storage disorders
  • Acid sphingomyelinase deficiency (ASMD) (Niemann-Pick disease types A and B)
  • CLN2 (neuronal ceroid lipofuscinosis 2) – Batten disease
  • Fabry disease
  • Gaucher disease
  • Krabbe disease
  • Sanfilippo syndrome (Mucopolysaccharidosis type III (MPS III))

Metabolic disorders

 

  • 3-methylcrotonyl-CoA carboxylase deficiency
  • 3-methylglutaconic aciduria/ 3-methylglutaconyl-CoA hydratase
  • Biotinidase deficiency
  • Malonic acidemia
  • X-linked agammaglobulinemia

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.

Contact

Newborn Bloodspot Screening contact

Contact us for more information about newborn bloodspot screening policy.
Date last updated:

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