At a glance

In Queensland:

  • In 2021, participation in the newborn bloodspot screening program was 99%.
  • In 2020 and 2021, the Healthy Hearing Program screened 98% of newborns.

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).

In 2021, participation in NBS in Queensland was approximately 99%. The NBS National Policy Framework recommends for newborns to be screened in the critical period of 48 to 72 hours. Participation in the critical period was about 85–90% and varied across the state.

In 2020, NBS in Queensland confirmed cases among:1

  • 17 infants for cystic fibrosis
  • 29 infants for congenital hypothyroidism
  • 10 infants for phenylketonuria
  • 1 infant for galactosaemia
  • 4 infants for medium-chain acyl-CoA dehydrogenase deficiency
  • 5 infants for other extended mutations
  • 2 infants for congenital adrenal hyperplasia (Figure 1).

Figure 1: Incidence of newborn screening conditions, Queensland, 2004–2020

Figure 1a: Incidence of newborn screening conditions, Queensland, 2004–2020 (figure)
Line graph showing the trends of incidence of six conditions detected in Queensland newborn screening from 2004 to 2020.
Figure 1b: Incidence of newborn screening conditions, Queensland, 2004–2020 (table)Ordered by year and condition
YearConditionCase rate per 10,000 infants
2004Cystic Fibrosis4.0
2004Congenital Hypothyroidism3.8
2004Phenylketonuria0.8
2004Galactosaemia0.6
2004MCAD**1.3
2004Other EMS***2.0
2005Cystic Fibrosis4.2
2005Congenital Hypothyroidism2.7
2005Phenylketonuria1.3
2005GalactosaemiaNA
2005MCAD**1.3
2005Other EMS***0.4
2006Cystic Fibrosis3.9
2006Congenital Hypothyroidism4.4
2006Phenylketonuria1.1
2006Galactosaemia0.2
2006MCAD**0.9
2006Other EMS***0.7
2007Cystic Fibrosis5.0
2007Congenital Hypothyroidism3.2
2007Phenylketonuria0.7
2007GalactosaemiaNA
2007MCAD**1.0
2007Other EMS***1.8
2008Cystic Fibrosis4.4
2008Congenital Hypothyroidism3.0
2008Phenylketonuria1.1
2008GalactosaemiaNA
2008MCAD**1.1
2008Other EMS***1.6
2009Cystic Fibrosis3.7
2009Congenital Hypothyroidism5.7
2009Phenylketonuria0.8
2009Galactosaemia0.2
2009MCAD**0.5
2009Other EMS***2.0
2010Cystic Fibrosis4.1
2010Congenital Hypothyroidism3.9
2010Phenylketonuria1.5
2010Galactosaemia0.3
2010MCAD**0.5
2010Other EMS***1.1
2011Cystic Fibrosis3.1
2011Congenital Hypothyroidism3.2
2011Phenylketonuria0.5
2011Galactosaemia0.2
2011MCAD**0.6
2011Other EMS***2.1
2012Cystic Fibrosis1.9
2012Congenital Hypothyroidism3.5
2012Phenylketonuria0.5
2012Galactosaemia0.2
2012MCAD**1.3
2012Other EMS***2.6
2013Cystic Fibrosis3.7
2013Congenital Hypothyroidism3.0
2013Phenylketonuria0.6
2013GalactosaemiaNA
2013MCAD**0.8
2013Other EMS***1.9
2014Cystic Fibrosis3.0
2014Congenital Hypothyroidism3.0
2014Phenylketonuria0.5
2014Galactosaemia0.2
2014MCAD**1.1
2014Other EMS***0.9
2015Cystic Fibrosis3.3
2015Congenital Hypothyroidism3.8
2015Phenylketonuria0.7
2015Galactosaemia0.2
2015MCAD**1.1
2015Other EMS***0.8
2016Cystic Fibrosis3.7
2016Congenital Hypothyroidism4.2
2016Phenylketonuria0.3
2016Galactosaemia0.3
2016MCAD**0.8
2016Other EMS***2.4
2017Cystic Fibrosis4.2
2017Congenital Hypothyroidism3.8
2017Phenylketonuria1.2
2017Galactosaemia0.2
2017MCAD**1.5
2017Other EMS***1.2
2018Cystic Fibrosis2.7
2018Congenital Hypothyroidism7.0
2018Phenylketonuria1.2
2018GalactosaemiaNA
2018MCAD**0.8
2018Other EMS***1.2
2019Cystic Fibrosis3.2
2019Congenital Hypothyroidism6.2
2019Phenylketonuria1.5
2019Galactosaemia0.2
2019MCAD**0.8
2019Other EMS***2.3
2020Cystic Fibrosis2.9
2020Congenital Hypothyroidism4.9
2020Phenylketonuria1.7
2020Galactosaemia0.2
2020MCAD**0.7
2020Other EMS***0.8

* “Infants” refers to new births recorded by the Newborn Screening Section. Please note this includes stillborn babies.

** MCAD: Medium-chain acyl-CoA dehydrogenase deficiency

*** Other EMS: Extended metabolic screening; Other disorders of amino acid, organic acid and fatty acid metabolism detected by Tandem Mass Spectrometry

Healthy Hearing Program

Children’s Health Queensland’s Healthy Hearing Program identifies hearing problems early so that babies and children with a permanent hearing loss can access the best care and support services they need to reach their full potential.2 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 Healthy Hearing Program offers universal newborn hearing screening in all Queensland birthing hospitals. Statewide performance data are shown below for the 2020 and 2021 calendar years:

Table 1: The Healthy Hearing Program Statewide performance data, 2020 and 2021 Ordered by screening rates
Year Screening rates Permanent hearing loss detected
Number of newborns screened Proportion of newborn population screenedNumber Rate per 1,000 newborns screened
2020 58,205 98.92% 183 3.1
2021 61,917 98.75% 196 3.2

References

  1. Queensland Health. 2021. Queensland Perinatal Statistics 2020. Brisbane: Queensland Government.
  2. Children’s Health Queensland Hospital and Health Service. 2023. Healthy Hearing Program. Accessed: 5 January 2023.

Last updated: March 2023

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