About the PEGASUS-2 project

PEGASUS-2 acronym is for «PErsonalized Genomics for prenatal Abnormalities Screening USing maternal blood : Towards First Tier Screening and Beyond»

The discovery that DNA of fetal origin is present in maternal blood during pregnancy has led to a new genomics-based maternal blood test called non-invasive prenatal screening (NIPS), which is very reliable at screening for Down syndrome. Currently, public healthcare systems pay for this expensive NIPS test only as a second-tier screening for women who have first screened positive on less costly and less accurate biochemical and ultrasound tests. Hence, only after an initial screen has delivered a positive result is NIPS currently used to help women participating in prenatal screening programs avoid a diagnostic amniocentesis...

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The introduction of genomic-based prenatal screening tests using maternal blood that 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, 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

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