Carmenta Diagnostic


Dr Enzo Ranieri BSc, Ph.D

Head of Biochemical Genetics, SA Pathology

Dr Janice Fletcher MBBS, BSc, MD, FRACP, FRCPA

Clinical Director of Genetics and Molecular Pathology, Deputy Executive Director of SA Pathology

Peter Sharp MHGSA

Senior Medical Scientist, Biochemical Genetics, SA Pathology

Dr Steven Ramsay BSc, Ph.D, Ph.D

Consultant Medical Scientist, Biochemical Genetics, SA Pathology


AusHealth Research-supported researchers have discovered a range of novel biomarkers present in maternal blood that indicate the risk of Down Syndrome in the foetus. This new diagnostic approach shows exceptional accuracy of detection at only 9-10 weeks’ gestation. This contrasts with current approaches that are unable to display the same accuracy until within 13-26 weeks’ gestation. At that late stage, some diagnostics pose a serious risk to the health of the child. With interest from major diagnostic companies, AusHealth Research is supporting a validation trial of the procedure, which could revolutionise diagnosis in utero.

AusHealth Research's Contribution

Along with assisting the researchers with protecting this exciting technology, AusHealth Research has aided in commercial assessment, identifying avenues to market. This has generated a number of key commercial options and markets. AusHealth Research has attracted and involved international investment from key partners, and financed the inclusion of new research scientists in the project, with a licence pending for this exciting new technology.