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Prenatal DisorderPEGASUS-2NCT03831256

PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood

A study testing Traditional integrated prenatal screening, Second-tier Non-invasive prenatal screening (NIPS) and First-tier Non-invasive prenatal screening (NIPS) in people with Prenatal Disorder and Aneuploidy, run by CHU de Quebec-Universite Laval at 6 sites in Canada.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record
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Trial summary

This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional screening tests for trisomy 21, and potentially to screen for other fetal chromosome anomalies. 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
Prenatal Disorder, Aneuploidy
What is being tested?
Traditional integrated prenatal screening, Second-tier Non-invasive prenatal screening (NIPS) and First-tier Non-invasive prenatal screening (NIPS)
Could I receive a placebo?
No, everyone receives an active treatment
How many people
7,849 participants
Where
6 sitesCanada
Study dates
13 Jan 2020to 30 Jun 2025
Phase
Interventional
Are there results?
Not yet: the study is under way

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

  • Pregnant women 19 years or older wanting prenatal screening
  • 10-13+6 wks determined by dating ultrasound or last menstrual period.
  • Not intending to pursue self pay NIPT

Who cannot join

  • Known fetal anomaly at the time of recruitment
  • Multiple gestation
  • Known twin demise
  • Planned CVS or amnio for known genetic condition.

Trial locations and contacts

6 sites in 1 country.

6 sites in 1 country

Canada6 sites

  • Kelowna Regional Fertility Center

    Kelowna, British Columbia, V1Y 1P2

  • CHU Ste-Justine

    Montreal, Quebec, H3T 1C5

  • Prince Rupert Regional Hospital

    Prince Rupert, British Columbia, V8J 2A6

  • CHU de Québec - Université Laval

    Québec, Quebec, G1L3L5

  • CIUSSS Côte-Nord

    Sept-Îles, Quebec, G4R 0N9

  • Children's & Women's Health Centre

    Vancouver, British Columbia, V6H 3N1

Other trials in Canada

About this study

Official title: PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood : Towards First Tier Screening and Beyond

This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional screening tests for trisomy 21, and potentially to screen for other fetal chromosome anomalies. We will compare the current screening approach of second-tier NIPS with the use of first-tier NIPS in a large cohort of pregnant women.

Read the detailed description

There is some data on the performance of NIPS as a first tier screening test but our systematic review has shown that no trial comparing the effectiveness (utility) of 2nd-tier NIPS with that of first-tier NIPS has been published . Further it is important for health care decision makers to have evidence produced in Canada since the geographical context of healthcare can affect uptake as well as patient decision and thus their healthcare trajectories. There is a need for a trial that is between an explanatory trial and a pragmatic trial to provide the types of answer that we aim to document in the present state of knowledge on NIPS-based screening strategies in Canada. Our Objective is to perform a pan-Canadian large-scale comparative utility (clinical outcomes) study of first-tier NIPS (expanded or not) as compared to the new standard of care (NIPS as a 2nd tier test performed much later during pregnancy and only in high risk pregnancies).

Being tested
Traditional integrated prenatal screening, Second-tier Non-invasive prenatal screening (NIPS), First-tier Non-invasive prenatal screening (NIPS), Invasive prenatal testing for fetal aneuploidy
Keywords
Real life comparative effectiveness, Non-invasive prenatal screening, Fetal aneuploidy, Randomized controlled trial
Medical subject headings
Aneuploidy

What participants receive

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

  • Traditional integrated prenatal screeningDiagnostic test

    Also called IPS

    biochemical prenatal screening with or without nuchal translucency by US

  • Second-tier Non-invasive prenatal screening (NIPS)Diagnostic test

    Also called second tier non-invasive prenatal testing (NIPT)

    genomics based NIPS after a positive traditional prenatal screen

  • First-tier Non-invasive prenatal screening (NIPS)Diagnostic test

    Also called first tier NIPT, Universal NIPS, Universal NIPT

    genomics based NIPS at first trimester

  • Invasive prenatal testing for fetal aneuploidyDiagnostic test

    amniocentesis or chorionic villi sampling (CVS)

Study groups in NCT03831256
Study groupRoleWhat they receive
Standard of care (2nd tier NIPS)Active comparatorFor the standard-of-care arm (2nd tier NIPS) women will undergo Traditional integrated prenatal screening i.e. traditional biochemical (+/- NT) and those with a positive screen for T21 or T18 will be offered Second-tier Non-invasive prenatal screening (NIPS) (for T21, T18, T13) or Invasive prenatal testing for fetal aneuploidy. Ultrasound examination in first and second trimester will be done based on clinical care practice ordered by health care provider. Pregnant women with a positive NIPS test will be offered Invasive prenatal testing for fetal aneuploidy (fetal chromosome analysis).
Receives: Diagnostic Test: Traditional integrated prenatal screening; Diagnostic Test: Second-tier Non-invasive prenatal screening (NIPS); Diagnostic Test: Invasive prenatal testing for fetal aneuploidy
First-tier NIPSExperimentalFor the intervention arm (1st tier NIPS) women will receive First-tier Non-invasive prenatal screening (NIPS) i.e. provide a blood sample between 10-13+5 weeks gestation with NIPS results within 7 - 10 days of sample collection. Ultrasound examination in first and second trimester will be done based on clinical care practice ordered by health care provider. In case of a failed NIPS test (expected to be between 2% and 4% of samples), a new blood sample will be drawn for NIPS retest as well as for a traditional SIPS(serum integrated prenatal screening) or QUAD(quadruple marker prenatal screening) screen (depending on gestational age). Pregnant women with a positive NIPS test will be offered Invasive prenatal testing for fetal aneuploidy (fetal chromosome analysis).
Receives: Diagnostic Test: First-tier Non-invasive prenatal screening (NIPS); Diagnostic Test: Invasive prenatal testing for fetal aneuploidy

What is being measured

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

  1. Gestational age at diagnosis

    gestational age at final result in the sub-set of participants that have received a positive NIPS result and that have been offered diagnostic testing

    Measured: Up to 24 weeks of gestational age

Secondary outcomes (9)

  1. Gestational age at negative screening result

    gestational age at final result in the sub-set of participants that have received a negative screening result

    Measured: Up to 24 weeks of gestational age

  2. Gestational age at positive screening result

    gestational age at final result in the sub-set of participants that have received a positive screening result

    Measured: Up to 24 weeks of gestational age

  3. proportion of women with no results

    proportion of women with no NIPS result at first and second attempt

    Measured: Up to 24 weeks of gestational age

  4. numbers of days for women with false positive result of screen to wait for result of definite test

    Difference between gestational age (in days) at first positive prenatal screening result and final negative screening result

    Measured: Up to 24 weeks of gestational age

  5. Change in PROMIS-29 Score

    The PROMIS-29 assesses seven health domains: physical function, anxiety, depression, fatigue, sleep disturbance, pain interference, and ability to participate in social roles and activities. Each of the seven domains has four questions which are scored on a five-point Likert scale. The PROMIS-29 scales will be scored using a T-score metric method available at the Assessment Center website (http://assessmentcenter.net). A score of 50 points represents the population average for each scale, and 10 points represent one standard deviation. Higher scores mean more of the specific scale's construct, which may indicate a desirable or an undesirable outcome. The assessment will be done at recruitment (10-13 weeks of gestation) and at week 16 and week 22 of gestation.

    Measured: At weeks of gestation 10-13, week 16 and week 22

  6. Change in PROMIS Emotional Distress - Anxiety - Short Form 8a Score

    The PROMIS-Anxiety short form assesses anxiety with 8 questions. The form includes 8 items and uses a scale of 1-5 (1=Never, 2=Almost never, 3= Sometimes, 4=Often, 5=Almost always). The raw score is the sum of the points for each response. A higher than average raw score indicates higher than average anxiety. A higher score represents higher levels of anxiety. The assessment will be done at recruitment (10-13 weeks of gestation) and at week 16 and week 22 of gestation.

    Measured: At weeks of gestation 10-13, 16 and 22

  7. Patient-Reported Experience Measure (PREM) - Score

    A 17-questions validated PREM questionnaire on pregnancy experience that measures three dimensions - type of prenatal care received and test results (seven questions), pregnancy visits (four questions (scales 1-5) and prenatal screening experience (six questions).

    A profile score by looking at frequencies of responses for each item will be used.

    Measured: At 22 weeks of gestation

  8. gestational age at termination of pregnancy

    Gestational age at termination of pregnancy for participants having volountary termination

    Measured: Up to 24 weeks of gestational age

  9. percentage of women undergoing invasive diagnostic testing

    see outcome title

    Measured: Up to 24 weeks of gestational age

Timeline

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

  1. First posted5 Feb 2019
  2. Study start13 Jan 2020
  3. Primary completion31 Dec 2023
  4. Study completion30 Jun 2025 (estimated)

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
Randomised
Intervention model
Parallel groups
Model description
Open-label prospective comparative-effectiveness (utility) randomised trial between first-tier NIPS and the standard of care (2nd-tier NIPS).
Masking
None (open label)
Enrolment
7,849 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03831256
Sponsor's protocol ID
SIRUL 118984
Acronym
PEGASUS-2
Status last verified
Feb 2025
First submitted
21 Jan 2019
Last updated
12 Feb 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Legare F, Giguere Y, Turgeon AF, Witteman W, Rousseau F. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2.

    PubMed 29125628

  • Dubeau A, El Balqui M, Talbot D, Rousseau F, Langlois S, Chen W, Audibert F, Bujold E, Forest JC, Dofara SG, Legare F. Validation of PREM-PS, a patient-reported experience instrument, in a randomized controlled trial of pregnant women undergoing prenatal screening. J Patient Rep Outcomes. 2026 Mar 7;10(1):59. doi: 10.1186/s41687-026-01020-5.

    PubMed 41793622

Questions about this trial

What is this clinical trial studying?

A study testing Traditional integrated prenatal screening, Second-tier Non-invasive prenatal screening (NIPS) and First-tier Non-invasive prenatal screening (NIPS) in people with Prenatal Disorder and Aneuploidy, run by CHU de Quebec-Universite Laval at 6 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 3 inclusion and 4 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: under way, not looking for participants, as of the sponsor's last update on 12 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 6 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?

This study is still under way. Results are not available in the source record yet.

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?

Gestational age at diagnosis (time frame: Up to 24 weeks of gestational age). 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 NCT03831256, 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 12 Feb 2025.

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