PEGASUS: Personalized Genomics for Prenatal Aneuploidy Screening Using Maternal Blood

Towards safer prenatal screening: a new solution could emerge within the healthcare system

Every year, almost 10,000 pregnant Canadian women undergo amniocentesis to detect certain genetic anomalies such as trisomy 21. This procedure carries a significant risk, leading to the loss of up to 70 healthy foetuses. Recently, researchers discovered that foetal DNA present in the mother’s blood can be used to screen for genetic anomalies.

This project proposes to carry out an independent study to compare the performance and usefulness of new genomic prenatal screening methods using a simple blood test, which could replace amniocentesis. In addition, the team will identify the best way to implement this technology in Canada, using decision-support tools for couples and training tools for healthcare professionals. In this way, the study will provide the Canadian healthcare system with the most appropriate technology so that, in time, all Canadian women can benefit from non-invasive prenatal screening as part of routine clinical care.

The project involves an interdisciplinary team of twenty-seven researchers from twelve universities: eight in Canada, four in Europe, and five federal and provincial healthcare decision-makers.

To find out more about this project, click here

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