For around 30 years, pre-natal testing for the Down Syndrome has relied on ‘a triple-test’, measuring certain blood markers and specific characteristics of a developing foetus. If the testing indicates the possibility of a Down Syndrome pregnancy, then typically further genetic or chromosomal testing can be performed to determine whether the pregnancy is affected or unaffected.

AusHealth’s Carmenta technology aims to provide an easier and more accurate screening test without relying on measuring the characteristics of the developing foetus.

Researchers from the Women’s and Children’s Hospital (WCH) and SA Pathology have been discovered that a blood sample from a mother with a Down Syndrome pregnancy has an altered profile of lipids (fats) in the blood which can be detected to assess the risk of Down Syndrome. The technology utilises state of the art mass spectrometry to detect the altered lipids.

AusHealth has partnered with the Women’s and Children’s Health Network and SA Pathology to fund the research and provide commercial development.

Carmenta technology is currently undergoing large-scale validation and the technology is expected to be commercially developed in the near future.