Newborn screening

Newborn bloodspot screening

Newborn Bloodspot Screening (NBS) has been offered in Queensland for more than 50 years, with the test (also called the heel-prick test) offered to all families, at no cost, in the first few days after the birth of a child.

Currently NBS in Queensland screens for over 25 conditions including galactosaemia, phenylketonuria, primary hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, and a range of rare metabolic disorders including medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and other extended metabolic screening (EMS).

In June 2022, the Queensland Government announced that from the end of May 2023 the NBS program in Queensland will include testing for two additional conditions, spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID).

The NBS National Policy Framework recommends for newborns to be screened in the critical period of 48 to 72 hours post-birth. Participation in the critical period was about 85–90% and varied across the state.

In 2022, newborn bloodspot screening in Queensland confirmed cases among:¹

• 21 infants for cystic fibrosis
• 33 infants for congenital hypothyroidism
• 3 infants for phenylketonuria
• 0 infant for galactosaemia
• 3 infants for medium-chain acyl-CoA dehydrogenase deficiency
• 6 infants for other extended mutations
• 11 infants for congenital adrenal hyperplasia (Figure 1).

Figure 1: Incidence of newborn screening conditions, Queensland, 2004–2022

^{* “Infants” refers to new births recorded by the Newborn Screening Section. Please note this includes stillborn babies.
** CAH: Congenital Adrenal Hyperplasia
*** MCAD: Medium-chain acyl-CoA dehydrogenase deficiency (from 1 April 2004)
**** Other EMS: Extended metabolic screening; Other disorders of amino acid, organic acid and fatty acid metabolism detected by Tandem Mass Spectrometry (from 1 April 2004)}

Healthy Hearing Program

Children’s Health Queensland’s Healthy Hearing Program aims to identify hearing problems early and ensure babies and children with a permanent hearing loss can access the care and support services they need to reach their full potential.²

The Healthy Hearing Program offers universal newborn hearing screening in all Queensland birthing hospitals. Statewide performance data are shown below for the calendar years:

Table 1: The Healthy Hearing Program Statewide performance data, 2020–2023

Source: Healthy Hearing Program, Queensland Health

The earlier a hearing problem is identified, and appropriate support provided, the better the outcomes for a child’s development. The Healthy Hearing pathway starts with hearing screening, and continues through diagnosis to early intervention programs and, where appropriate, surgical interventions (such as cochlear implants).

The statewide Healthy Hearing Program includes:

• Universal newborn hearing screening
• Teleaudiology for infant diagnostic services
• Community Hearing Screening (children 9 months to 16 years)
• Queensland Children’s Hospital Childhood Hearing Clinic
• Queensland Hearing Loss Family Support Service

Additional information

Data and statistics

• National performance indicators: National performance indicators to support neonatal hearing screening in Australia

Strategies and Information

• Newborn hearing screening: Newborn hearing screening
• National framework: National Framework for Neonatal Hearing Screening | Australian Government Department of Health and Aged Care.

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