Screening for Down syndrome in pregnancy

31 October 2023

SA Pathology’s Biochemical Genetics laboratory receives 20,000 samples a year, for first and second trimester screening test for Down syndrome in South Australia, Northern Territory and Tasmania as part of the SA Maternal Serum Antenatal Screening (SAMSAS) program.

Senior Scientist and PhD candidate Khoa Lam, Senior Research Scientist and PhD Supervisor Dr Emilie Mas and the research team of senior scientists Enzo Ranieri, Steven Ramsay and Tomas Rozek are applying their knowledge and expertise to find a novel way of screening for Down syndrome, also known as trisomy 21 or T21, during the first trimester of pregnancy.

Using a mass spectrometry approach, Khoa and the team analysed 5,000 maternal blood samples, collected through the SAMSAS program. Their analysis detected a staggering 4,000 features in a 20-microliter sample – that’s roughly half a drop of blood.

Working with a biostatistician to interpret the information, they have been looking for indicators of Down syndrome present in mum’s blood. The research team have identified a specific profile which may be able to detect these patients earlier than currently possible and at a fraction of the cost of current screening.

The next step is to implement a prospective study, through the SAMSAS program, to gain a true representation of the population and determine if the test accurately detects the risk of T21.

Ultimately, they hope to provide an easier and more accurate screening test to identify high-risk pregnancies.

The power of this approach is not limited to T21. Detection of molecular changes in mum’s blood during pregnancy could be used to screen for other conditions in the foetus and pregnancy complications in mum.

Khoa says their goal is to reduce birth risk to mothers and babies globally by providing better screening and improving pregnancy management.

The project commenced in 2013 and is funded by AusHealth.