An interventional study of Integrated prenatal screening for Down's syndrome and Serum QUAD Assay for aneuploidy screening in Trisomy 21, Trisomy 18 and Trisomy 13, sponsored by CHU de Quebec-Universite Laval. Completed at 5 sites in Canada. Open to female participants aged 19 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2018-02-22.
Sponsored by CHU de Quebec-Universite Laval · Not applicable, Interventional, and Screening
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Among 23 studies in Down Syndrome with a site in Canada — 4 open to participants now, 7 under way, 2 of them phase 3. Down Syndrome · Canada.
Among the 23 studies in Down Syndrome with a site in Canada, this one is one of 2 that started in 2013, is the only one with no phase, and was the 12th registered.
438 studies on the registry are indexed under Down Syndrome; 99 are open to participants now.
Browse Down Syndrome studies →4 of the 23 studies in Down Syndrome with a site in Canada are open now. Recruiting first, the newest first:
Children's Oncology Group · Sites in Canada, United States
Ages 6–39
National Cancer Institute (NCI) · Sites in Canada, United States, Australia and 1 more country
Ages 1–30
Duke University · Sites in Canada, United States
Ages 0–20 · Healthy volunteers
Sequenom, Inc. · Sites in Canada, United States
Ages 18+ · Women only
A study can be open while its sites in Canada have not opened yet or have stopped. Only those recruiting at a site in Canada →
Of the 75 Down Syndrome studies recruiting now, 14 (19%) set no upper age limit and 58 (77%) stop at 75 or younger; 61 take children under 18; 19 take healthy volunteers.
This study: 19 Years and older · female · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
23 studies; the count open now beside each. This study's row is marked.
First in 2002; this study’s year is marked. 2 started in 2013.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 3,819 is above the median of 37 across 286 interventional studies indexed under Down Syndrome.
Median enrollment 453 across the 8 interventional studies, 2,000 across the 15 observational. Of the 14 that completed or were terminated, 1 (7%) have results posted.
This tab as a report to print or save as PDF → With an account.
9 of 23 have an industry lead sponsor. The 10 most frequent:
CHU de Quebec-Universite Laval is the lead sponsor of 137 studies on the registry; 27 are open to participants now.
CHU de Quebec-Universite Laval has 1 study filed under Down Syndrome — fewer than ten, so there is no comparison to draw.
2 of the studies in Down Syndrome with a site in Canada that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT03914625Phase 3National Cancer Institute (NCI)A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic Leukemia | 2027-09-30 |
| NCT04278404Duke UniversityPharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children Per Standard of Care (POPS) | 2026-11 |
Add all 2 to your calendar (.ics) → With an account.
Among the 23 studies in Down Syndrome with a site in Canada, from their registry updates:
Nothing recorded among them since 2026-09-25.
This tab as a report to print or save as PDF → With an account.
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).
Inclusion Criteria (High risk arm):
Inclusion Criteria (Low risk arm):
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Integrated prenatal screening for Down's syndrome (with follow-up fetal karyotype if positive); Serum QUAD Assay for aneuploidy screening; Semiconductor MPSS NIPT assay using ccfDNA in maternal blood; Optical-based MPSS NIPT assay using ccfDNA in maternal blood; Harmony™ Test (Ariosa Diagnostics)
Other: Integrated prenatal screening for Down's syndrome · Other: Serum QUAD Assay for aneuploidy screening · Other: Semiconductor MPSS NIPT assay using ccfDNA in maternal blood · Other: Optical-based MPSS NIPT assay using ccfDNA in maternal blood · Other: Harmony™ Test (Ariosa Diagnostics)
Integrated prenatal screening for Down's syndrome (with follow-up fetal karyotype if positive); Serum QUAD Assay for aneuploidy screening; Semiconductor MPSS NIPT assay using ccfDNA in maternal blood; Optical-based MPSS NIPT assay using ccfDNA in maternal blood; Harmony™ Test (Ariosa Diagnostics) (subset)
Other: Integrated prenatal screening for Down's syndrome · Other: Serum QUAD Assay for aneuploidy screening · Other: Semiconductor MPSS NIPT assay using ccfDNA in maternal blood · Other: Optical-based MPSS NIPT assay using ccfDNA in maternal blood · Other: Harmony™ Test (Ariosa Diagnostics)
Analysis of several serum biochemical markers, and fetal nuchal translucency by ultrasound, with computation of an individual risk of fetal aneuploidy.
Also known as: IPS, Prenatal serum screening, Aneuploidy screening, Down's syndrome screening, Downs' syndrome screening
Series of biochemical markers with results integrated into a computational estimate of risk of fetal aneuploidy
Also known as: First trimester QUAD prenatal screening assay
Analysis by next-generation sequencing of ccfDNA (circulating cell-free DNA) from maternal blood, using a targeted NIPT assay.
Also known as: NIPD, MPSS, Non-invasive prenatal testing, Non-invasive prenatal diagnosis
Analysis by next-generation sequencing of ccfDNA (circulating cell-free DNA) from maternal blood, using an un-targeted NIPT assay.
Also known as: NIPD, MPSS, Un-Targeted NIPD, Non-invasive prenatal testing, Non-invasive prenatal diagnosis
Test that is commercially available (Ariosa Diagnostics). (will be used for benchmarking purposes in a subset of each arm)
Also known as: DANSR Assay
Number of cases with Fetal trisomy 21, 18 or 13
Only pregnant women will be recruited, fetal outcome will be assessed by fetal karyotype or at or after delivery.
Time frame: 6 weeks after the delivery date
Number of women with assay failure
Time frame: At end of pregnancy.
Overall costs of screening algorithm
Time frame: 6 weeks after delivery
The record gives a start of Nov 2013, a primary completion of Jun 2017 and a completion of Jun 2017. It does not say whether these dates are actual or estimated.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Apr 2016. You cannot join it, but the record below documents what was studied.
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CHU de Quebec-Universite Laval →