Clinical Trial: Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: PEGASUS: PErsonalized Genomics for Prenatal Aneuploidy Screening USing Maternal Blood

Brief Summary:

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 partn

Detailed Summary: 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).
Sponsor: Centre Hospitalier Universitaire de Québec, CHU de Québec

Current Primary Outcome: Number of cases with Fetal trisomy 21, 18 or 13 [ Time Frame: 6 weeks after the delivery date ]

Only pregnant women will be recruited, fetal outcome will be assessed by fetal karyotype or at or after delivery.


Original Primary Outcome: Same as current

Current Secondary Outcome: Number of women with assay failure [ Time Frame: At end of pregnancy. ]

Original Secondary Outcome: Same as current

Information By: Centre Hospitalier Universitaire de Québec, CHU de Québec

Dates:
Date Received: August 16, 2013
Date Started: November 2013
Date Completion: December 2017
Last Updated: January 30, 2017
Last Verified: April 2016