About the project

Moving towards implementing next generation prenatal screening: a new solution could become an integral part of our healthcare system

Each year, 450,000 Canadian women become pregnant and, as a result of their participation in prenatal screening for Down syndrome, approximately 10,000 of them will have an amniocentesis (i.e. sampling of liquid surrounding the fetus) because of a high risk of carrying a fetus with Down syndrome and of those, 315 will be found to carry a baby with Down syndrome and up to 70 normal pregnancies will be lost from complications of the procedure.

It has been discovered recently that, during pregnancy, there is fetal DNA in maternal blood in sufficient quantities to be analysed and methods have been proposed to detect the presence or not of a fetus with Down syndrome using maternal blood.

The introduction of genomic-based prenatal screening using maternal blood as will be evaluated in the context of this project could lead to increased detection of Down syndrome, less invasive screening with up to 9000 amniocenteses procedures avoided each year in Canada, and potentially improve the peace of mind of pregnant women, and preventing the accidental loss of up to 70 normal fetuses, likely at a lower overall cost than current practice. However, these methods still need to be validated before being appropriately introduced in routine care.

In addition, while this technology presents some advantages compared to previously available methods of screening, it also has its own technical limitations and raises various ethical and social concerns that require assessment and consideration. For instance, challenges related to autonomous choice and informed consent may arise due to the ease of using this technology. Stakeholders have also raised concerns regarding possible impacts of increased screening on existing populations of individuals living with the conditions that are being tested.

This project proposes to carry out an independent study that will validate the performance and utility of these new genomic technologies for screening for major fetal chromosome imbalances in pregnant women using maternal blood. The team of researchers will recruit 5600 pregnant women across Canada and compare the results of these new prenatal screening methods with the current prenatal screening approaches. They will determine whether those new tests are cost-effective as well as the most cost-effective strategy to implement of this new technology in the Canadian health care system. They will develop decision-making tools that will assist couples in making informed decisions, as well as educational tools for health care professionals, all integral components of the implementation of a validated genomics-based non-invasive prenatal diagnosis. The deliverables of this project will enable decision makers, pregnant women and their partner to make informed choices pertaining to prenatal genetic screening and diagnosis, such as screening for Down syndrome, and reduce the risk to pregnancies associated with amniocentesis.

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