Conditions screened

What conditions are included in BabyScreen+?

Genomic newborn screening through BabyScreen+ looks for over 500 severe but treatable childhood-onset conditions. 

Click here to view the list of genes and conditions screened in BabyScreen+

The genes and conditions were selected by a group of experts including clinical geneticists, genetic scientists, genetic counsellors, specialist physicians and a patient support organisation.

Genes included in the screening meet the following criteria:

  • Screening can be performed with confidence using currently available technology
  • The condition associated with the gene has a serious impact on health and/or is life-limiting
  • The condition associated with the gene usually affects children under 5 years of age
  • There is available treatment that prevents, cures or significantly reduces the severity of the condition

What conditions are not included?

Genomic newborn screening through BabyScreen+ does not look for:

  • Mild conditions
  • Conditions that do not usually affect young children
  • Conditions where treatment is not available in early childhood, or does not have a significant impact on health outcomes
  • Genetic changes that have no known health impacts for the baby (e.g., being a carrier for a genetic condition)

If you have any queries about the conditions screened through BabyScreen+, please don’t hesitate to contact our study team.

Proudly in partnership with

BabyScreen+ is funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission, grant number MRF2015937.