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NCT Number: NCT03831256

PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood

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.

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Prenatal Disorder Aneuploidy Chromosome Aberrations Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

19 year and older

Sex eligibility

Female

Study type

Interventional

Phase

Not applicable

Primary location

Kelowna Regional Fertility Center, Kelowna, British Columbia, Canada

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About this study

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).

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

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

Treatment and study plan

Traditional integrated prenatal screening

Diagnostic Test

biochemical prenatal screening with or without nuchal translucency by US

Other names: IPS

Second-tier Non-invasive prenatal screening (NIPS)

Diagnostic Test

genomics based NIPS after a positive traditional prenatal screen

Other names: second tier non-invasive prenatal testing (NIPT)

First-tier Non-invasive prenatal screening (NIPS)

Diagnostic Test

genomics based NIPS at first trimester

Other names: first tier NIPT, Universal NIPS, Universal NIPT

Invasive prenatal testing for fetal aneuploidy

Diagnostic Test

amniocentesis or chorionic villi sampling (CVS)

Primary outcomes

  1. Gestational age at diagnosis

    Time frame: Up to 24 weeks of gestational age

    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

Secondary outcomes

  1. Gestational age at negative screening result

    Time frame: Up to 24 weeks of gestational age

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

  2. Gestational age at positive screening result

    Time frame: Up to 24 weeks of gestational age

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

  3. proportion of women with no results

    Time frame: Up to 24 weeks of gestational age

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

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

    Time frame: Up to 24 weeks of gestational age

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

  5. Change in PROMIS-29 Score

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

    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.

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

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

    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.

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

    Time frame: At 22 weeks of gestation

    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.

  8. gestational age at termination of pregnancy

    Time frame: Up to 24 weeks of gestational age

    Gestational age at termination of pregnancy for participants having volountary termination

  9. percentage of women undergoing invasive diagnostic testing

    Time frame: Up to 24 weeks of gestational age

    see outcome title

Sponsors and collaborators

Lead sponsor

CHU de Quebec-Universite Laval

Other

Collaborators

  • Canadian Institutes of Health Research (CIHR)
  • Genome Alberta
  • Genome British Columbia
  • Genome Canada
  • Genome Quebec
  • Laval University
  • McGill University
  • Ontario Research Fund
  • Ottawa Hospital Research Institute
  • St. Justine's Hospital
  • University of Alberta
  • University of British Columbia

Registry information

Official study title

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

Acronym: PEGASUS-2

Important dates

Study start
2020
Primary completion
2023
Study completion
2025
First posted
Feb 5, 2019
Registry last updated
Feb 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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