Trisomy 21 Clinical Trial
Official title:
PEGASUS: PErsonalized Genomics for Prenatal Aneuploidy Screening USing Maternal Blood
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) and of those, 315 will be found to carry a
baby with Down syndrome and 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 blood testing as proposed in the context of this project could lead
to increased detection of Down syndrome, less invasive screening with 9700 amniocentesis
avoided each year in Canada, improving the peace of mind of pregnant women, and preventing
the accidental loss of 70 normal fetuses, at a lower overall cost than current practice.
However, these methods still need to be validated before being appropriately introduced in
routine care.
The study hypothesis is that new genomics-based non-invasive methods using fetal-DNA in
maternal blood during pregnancy can be more effective than current prenatal screening methods
for fetal aneuploidy.
This project will carry out an independent study that will validate the performance and
utility of different new genomic technologies for screening in pregnant women using maternal
blood. The team of researchers will compare the real-life performance of different
non-invasive assays and strategies to screen for fetal aneuploidy, and identify an
evidence-based cost-effective approach for implementation of this new technology in the
Canadian health care system. 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.
The present study is a real life comparative effectiveness study that will compare the performances and costs of several prenatal screening modalities for fetal aneuploidy (see interventions). ;
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