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AzTrials

Trisomy 21PEGASUSNCT01925742

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

A study testing Integrated prenatal screening for Down's syndrome, Serum QUAD Assay for aneuploidy screening and Semiconductor MPSS NIPT assay using ccfDNA in maternal blood in people with Trisomy 21 and Trisomy 18, run by CHU de Quebec-Universite Laval at 5 sites in Canada.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 19 years and older, women onlyHealthy volunteers can take part
Conditions the study is for
Trisomy 21, Trisomy 18, Trisomy 13
What is being tested?
Integrated prenatal screening for Down's syndrome, Serum QUAD Assay for aneuploidy screening and Semiconductor MPSS NIPT assay using ccfDNA in maternal blood
Could I receive a placebo?
No, everyone receives an active treatment
How many people
3,819 participants
Where
5 sitesCanada
Study dates
Nov 2013to Jun 2017
Phase
Interventional
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 19 years and older
  • Women only
  • Healthy volunteers accepted
  • Adult, Older adult

Who may be able to join

  • women 19 years or older between 10 weeks and 23 weeks 6 days gestation undergoing amniocentesis or CVS for:
  • positive prenatal screen;
  • abnormal ultrasound
  • previous pregnancy with trisomy
  • patient or partner carrier of Robertsonian translocation involving chr 21
  • positive NIPT result
  • Maternal age 40 or more
  • women 19 years and older who are 10 and 13 weeks 6 days gestation based on dating ultrasound (CRL) and are undergoing screening for Down syndrome (first trimester combined, SIPS or IPS)

Who cannot join

  • women with multiple gestations
  • women with twin demise (spontaneous or elective) at any gestational age
  • women with active or history of malignancy

Trial locations and contacts

5 sites in 1 country.

5 sites in 1 country

Canada5 sites

  • Foothills Medical Centre

    Calgary, Alberta, T2N 2T9

  • CHU Ste-Justine

    Montreal, Quebec, H3T 1C5

  • The Ottawa Hospital

    Ottawa, Ontario, K1H 8L6

  • CHU de Québec

    Québec, Quebec, G1L3L5

  • Children's & Women's Health Centre

    Vancouver, British Columbia, V6H 3N1

Other trials in Canada

About this study

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.

Read the detailed description

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).

Being tested
Integrated prenatal screening for Down's syndrome, 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)
Keywords
Fetal aneuploidy
Medical subject headings
Down Syndrome, Trisomy 18 Syndrome, Trisomy 13 Syndrome

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Integrated prenatal screening for Down's syndromeOther

    Also called IPS, Prenatal serum screening, Aneuploidy screening, Down's syndrome screening

    Analysis of several serum biochemical markers, and fetal nuchal translucency by ultrasound, with computation of an individual risk of fetal aneuploidy.

  • Serum QUAD Assay for aneuploidy screeningOther

    Also called First trimester QUAD prenatal screening assay

    Series of biochemical markers with results integrated into a computational estimate of risk of fetal aneuploidy

  • Semiconductor MPSS NIPT assay using ccfDNA in maternal bloodOther

    Also called 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 a targeted NIPT assay.

  • Optical-based MPSS NIPT assay using ccfDNA in maternal bloodOther

    Also called NIPD, MPSS, Un-Targeted NIPD, Non-invasive prenatal testing

    Analysis by next-generation sequencing of ccfDNA (circulating cell-free DNA) from maternal blood, using an un-targeted NIPT assay.

  • Harmony™ Test (Ariosa Diagnostics)Other

    Also called DANSR Assay

    Test that is commercially available (Ariosa Diagnostics). (will be used for benchmarking purposes in a subset of each arm)

Study groups in NCT01925742
Study groupRoleWhat they receive
Low Risk of aneuploidyExperimentalIntegrated 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)
Receives: 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)
High risk of aneuploidyExperimentalIntegrated 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)
Receives: 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)

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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.

    Measured: 6 weeks after the delivery date

Secondary outcomes (1)

  1. Number of women with assay failure

    Measured: At end of pregnancy.

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted20 Aug 2013 (estimated)
  2. Study startNov 2013
  3. Primary completionJun 2017
  4. Study completionJun 2017

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Screening
Allocation
Non-randomised
Intervention model
Parallel groups
Masking
None (open label)
Enrolment
3,819 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01925742
Sponsor's protocol ID
2014-1236; SIRUL-102531
Other IDs
B13-06-1236
Acronym
PEGASUS
Status last verified
Apr 2016
First submitted
16 Aug 2013
Last updated
22 Feb 2018
Results posted
No
Data monitoring committee
No

Publications

  • Fibke C, Giroux S, Caron A, Starks E, Parker JDK, Swanson L, Jouan L, Langlois S, Rouleau G, Rousseau F, Karsan A. Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening. Clin Chem Lab Med. 2021 Nov 11;60(2):183-190. doi: 10.1515/cclm-2021-0652. Print 2022 Jan 27.

    PubMed 34761647

  • Rousseau F, Langlois S, Johnson JA, Gekas J, Bujold E, Audibert F, Walker M, Giroux S, Caron A, Clement V, Blais J, MacLeod T, Moore R, Gauthier J, Jouan L, Laporte A, Diallo O, Parker J, Swanson L, Zhao Y, Labelle Y, Giguere Y, Forest JC, Little J, Karsan A, Rouleau G. Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study. Eur J Hum Genet. 2019 Nov;27(11):1701-1715. doi: 10.1038/s41431-019-0443-0. Epub 2019 Jun 23.

    PubMed 31231136

Questions about this trial

What is this clinical trial studying?

A study testing Integrated prenatal screening for Down's syndrome, Serum QUAD Assay for aneuploidy screening and Semiconductor MPSS NIPT assay using ccfDNA in maternal blood in people with Trisomy 21 and Trisomy 18, run by CHU de Quebec-Universite Laval at 5 sites in Canada.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 22 Feb 2018. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 5 sites in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Number of cases with Fetal trisomy 21, 18 or 13 (time frame: 6 weeks after the delivery date). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01925742, which also lists 2 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Feb 2018.

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