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The Women's and Children's Hospital is located on the traditional lands for the Kaurna people, and we respect their spiritual relationship with their Country. We also acknowledge that the Kaurna people are the custodians of the Adelaide region, and that their cultural and heritage beliefs are still as important to the living Kaurna people today.

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NewbornsInSA Research Study

Hands and Foot

Newborn screening involves looking for a range of rare but serious health conditions in the first days of life. The purpose is to identify conditions as early as possible so that life-saving treatments can be provided.

Newborns In SA logo

NewbornsInSA – earlier detection, earlier treatment

Newborn screening involves looking for a range of rare but serious health conditions in the first days of life. The purpose is to identify conditions as early as possible so that life-saving treatments can be provided. In South Australia, standard of care newborn screening targets about 30 conditions, and almost every newborn is screened. NewbornsInSA is a research study looking at a new approach to expand newborn screening to detect over 600 genetic conditions using a combination of metabolite and DNA analysis.

Participating in NewbornsInSA is voluntary (opt-in). Parents and guardians who want their baby to be part of the NewbornsInSA research study on genomic newborn screening will need to enrol in the study. Follow the “Enrol Here” button below to find important study details within the information sheet.

The 600+ genetic conditions which we will look for meet these criteria:

  • Condition occurs in childhood
  • The condition is serious, and is expected to have symptoms that would have a debilitating impact on quality of life if undiagnosed
  • There is an effective treatment or management option available
  • There is strong evidence that the genetic variant causes the condition
  • Our laboratory can reliably detect the condition.

Why participate in NewbornsInSA?

  • Babies enrolled in this research study will be screened for more conditions than babies not enrolled.
  • The research study will cover the expenses of screening with no cost to families.
  • The NewbornsInSA study has the potential to identify genetic conditions before the baby shows any signs of disease. This means babies can receive treatment earlier.
  • In many cases, earlier treatment reduces the likelihood of severe disability or permanent damage.
  • Most babies who are screened will not have a finding (low chance screen result).
  • The few babies who will have a clinically significant finding (high chance screen result) will be able to receive treatment. This could be a significant and life changing intervention and limit disability caused by the condition. Treatments may include medication, dietary supplements, transplantation, or lifestyle modifications.

Project status

Opening for enrolment later in 2024

Contact details

Associate Professor Karin Kassahn, Principal Investigator
Lucy Anastasi, Project Manager
Health.SAPathologyNewbornsInSA@sa.gov.au

NewbornsInSA Research Pathway

Pathway Families Enrolled In Newbornsin SA

– This pathway is for families who have enrolled in NewbornsInSA. NewbornsInSA research screen is IN ADDITION to the standard of care screening.

Pathway Families Not Enrolled In Newbornsin SA

– This pathway is for families who have NOT enrolled in NewbornsInSA. Standard of care screening is provided without additional research screening.

Research Study Partners

The NewbornsInSA research study is led by the following agencies/institutions:

Main Collaborators and Partners

Funding Sponsor

Patient Advocacy and Community

Research Support