Newborn Bloodspot Screening

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 NBS programs.

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

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 

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) deficiency
  • 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
  • Approved by Health Ministers on 5 June 2023.

Conditions not consistently screened for, agreed for implementation
  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#
  • * Commitment made to include conditions.
  • ^ Work is underway to commence screening these conditions.
  • # Pilot or implementation planned for 2023.

Conditions currently under review, not currently screened for
Condition More details
X-linked adrenoleukodystrophy (X-ALD) MSAC application 1710
Sickle cell disease and beta-thalassemia MSAC application 1737

Conditions identified for NBS technical advice

Condition type

Condition name

Lysosomal storage disorders
  • Acid sphinogomyelinase deficiency (ASMD) (Niemann-Pick disease types A and B)
  • CLN2 (neuronal ceroid lipofuscinosis 2) – Batten disease
  • Fabry Disease
  • Gaucher disease
  • Hurler syndrome (Mucopolysaccharidosis type I (MPS I))
  • Krabbe disease
  • Pompe disease
  • Sanfilippo syndrome (Mucopolysaccharidosis type III (MPS III))

Metabolic disorders

 
  • 3-methylcrotonyl-CoA carboxylase deficiency
  • 3-methylglutaconic aciduria/ 3-methylglutaconyl-CoA hydratase
  • Biotinidase deficiency
  • GAMT (guanidinoacetate methyltransferase) deficiency
  • Malonic acidemia
  • Tyrosinemia type I
  • 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.
NBS@health.gov.au
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