Australia’s Newborn Bloodspot Screening (NBS) detects conditions early, ensuring timely treatment and better health outcomes. The program targets conditions with reliable tests and proven treatments. From endocrine disorders like congenital adrenal hyperplasia to metabolic conditions such as PKU, early intervention is key. Here are the top 10 conditions screened in Australia’s NBS programs for a healthier start.
Target conditions are intentionally screened for in Australia’s NBS programs. There is a specific and reliable test available to detect these conditions, the health outcomes of the condition are well understood and there is an available and effective treatment.
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
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)
(Classic) galactosemia
Other galactosemias (epimerase, kinase, mutarotase deficiencies)
Conditions agreed as target and under implementation
Condition type
Condition
WA SA / Tas / NT Qld / NT NSW / ACT Vic Date agreed by Health Ministers
Metabolic disorders Biotinidase deficiency Pending Pending Pending Pending Pending 6 February 2025
X-linked adrenoleukodystrophy (X-ALD)* Pending Pending Pending Pending Pending 6 December 2024
Tyrosinemia type I Yes Pending Pending Yes Pending 19 April 2024
GAMT (guanidinoacetate methyltransferase) deficiency Pending Pending Pending Pending Yes 19 April 2024
Haemoglobinopathy Sickle cell disease** Pending Pending Pending Pending Pending 25 September 2024
Pending refers to those conditions for which a commitment has been made to screen as a target condition, but screening has not yet commenced.
- Health Ministers agreed to add X-ALD to screening programs for male newborns and commissioned further work in relation to screening female newborns. This is because X-ALD is a condition which predominately affects males.
**10 variants of sickle cell disease will be detected. For a list of the variants please view the NBS variant fact sheet.
Conditions agreed as non-target
Non-target conditions may be incidentally detected when screening for a target condition. Although newborn bloodspot screening is not specifically designed to detect these conditions, it may find babies with a non-target condition who may benefit from early detection. Abnormal findings from newborn bloodspot screening (both target and non-target conditions) are reported and followed up as required.
Condition type Condition Date agreed by Health Ministers
Organic acid disorders 3-methyl-glutaconic aciduria (3-MGA) 19 April 2024
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) 19 April 2024
Malonic acidemia 19 April 2024
Ethylmalonic encephalopathy 6 February 2025
2-methyl-3-hydroxybutyric aciduria 6 February 2025
2-methylbutyrylglycinuria 6 February 2025
Other metabolic disorders X-linked agammaglobulinemia (XLA) 19 April 2024
Congenital adrenal hyperplasia (11 beta-hydroxylase deficiency) 6 February 2025
Duarte galactosemia 6 February 2025
Fatty acid oxidation disorders Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency 6 February 2025
Amino acid disorders Citrullinemia Type II 6 February 2025
Tyrosinemia, transient 6 February 2025
Hypermethioninemia 6 February 2025
Haemoglobinopathies
Sickle cell trait (carrier) 25 September 2024
Beta thalassemia* 25 September 2024
Other haemoglobinopathies* 25 September 2024
*8 variants of beta-thalassemia and 7 variants of other haemoglobinopathies may be incidentally detected. For a list of the variants please view the NBS variant fact sheet.
Conditions currently under assessment, 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.
Condition Status
Pompe disease
Referred to the MSAC health technology assessment process. For further information, see MSAC application 1774.
Consultation
The consultation survey for Pompe disease is now open. You are invited to provide information to inform MSAC’s consideration of newborn bloodspot screening for Pompe disease by completing the online survey via this webpage: MSAC Consultation Survey – Application 1774 – Office of Health Technology – Citizen Space
MSAC consultation input must be received no later than 14 February 2025. For further information please refer to MSAC Consultation Process
Mucopolysaccharidosis type I (MPS I)
Referred to the MSAC health technology assessment process. For further information, see MSAC application 1775.
Next steps
Consultation for MPS I closed 11 October 2024.
MPS I will be considered by MSAC at its November 2024 meeting.
Mucopolysaccharidosis type II (MPS II)
Referred to the MSAC health technology assessment process. For further information, see MSAC application 1776.
Consultation
The consultation survey for MPS II is now open. You are invited to provide information to inform MSAC’s consideration of newborn bloodspot screening for MPS II by completing the online survey via this webpage: MSAC Consultation Survey – Application 1776 – Office of Health Technology – Citizen Space
MSAC consultation input must be received no later than 14 February 2025. For further information please refer to MSAC Consultation Process.
Conditions considered and agreed not to progress
Through the decision-making pathway, Health Ministers have considered advice on the conditions in the table below. They agreed that the conditions should not proceed to the Medical Services Advisory Committee (MSAC) for health technology assessment, at this time. For more information on the pathway see the NBS decision-making pathway fact sheet.
For a condition to progress to MSAC for assessment, it needs to align with the criteria in Australia’s NBS National Policy Framework. The National Policy Framework criteria include:
The condition is serious and benefits from early diagnosis in the newborn period.
There is a suitable test available, which is socially and ethically acceptable.
There is an acceptable and effective intervention or treatment available.
The conditions in the table below were assessed as not having sufficient alignment with the criteria within the NBS National Policy Framework to proceed to MSAC at this time.
These conditions, listed below, will be placed on a registry and reviewed as part of the regular NBS condition identification process. This includes monitoring developments in treatments, technology and international screening programs.
Condition type Condition name Date considered by Health Ministers
Lysosomal storage disorders Acid sphingomyelinase deficiency (ASMD) (Niemann-Pick disease types A and B) 5 June 2024
CLN2 (neuronal ceroid lipofuscinosis 2) – Batten disease 5 June 2024
Fabry disease 5 June 2024
Krabbe disease 5 June 2024
Sanfilippo syndrome (Mucopolysaccharidosis type III (MPS III)) 5 June 2024
Gaucher disease 10 December 2024
Conditions identified for NBS technical advice
Condition type Condition name
Metabolic disorders
Amino Acid disorders
Argininemia
Carbamoyl Phosphate Synthetase Deficiency
Ornithine Transcarbamylase Deficiency
Gyrate Atrophy of the Choroid and Retina
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Biopterin Defect in Cofactor Biosynthesis
Biopterin Defect in Cofactor Regeneration
Hyperprolinemia Type I
Hyperprolinemia Type II
Fatty acid oxidation disorders
Short Chain Acyl-CoA Dehydrogenase Deficiency
Organic acid disorders
Formiminoglutamic acidemia
Isobutyrylglycinuria
Methylmalonic Acidemia with Homocystin
Other disorders
T-Cell Related Lymphocyte Deficiencies
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.
Disclaimer:
Dear Readers,
We, the authors, are seasoned medical practitioners with over 25 years of collective experience. The care tips and suggestions provided in this content are intended to offer general advice for promoting health. However, it is crucial to understand that every individual is unique, and what works for one person may not be suitable for another.
While our recommendations focus on natural and general care practices, we strongly advise you to consult with your family doctor or a qualified healthcare professional before incorporating any specific medications, chemicals, or advanced treatments into your care routine. Your family doctor can provide personalized advice based on your medical history, type, and potential sensitivities.
Our goal is to empower you with knowledge for healthier you, but individualized medical guidance is paramount for ensuring safe and effective care practices. Always prioritize your health and seek professional advice for any concerns.
Best regards,
dr.MAAS
director digital healthcare
COSMOCARE
preventadisease@gmail.com
powerofprevention@outlook.com