NCT03831256

Brief 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. 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.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
7,849

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Jan 2020

Longer than P75 for not_applicable

Geographic Reach
1 country

6 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 21, 2019

Completed
15 days until next milestone

First Posted

Study publicly available on registry

February 5, 2019

Completed
11 months until next milestone

Study Start

First participant enrolled

January 13, 2020

Completed
4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2023

Completed
1.5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2025

Completed
Last Updated

February 12, 2025

Status Verified

February 1, 2025

Enrollment Period

4 years

First QC Date

January 21, 2019

Last Update Submit

February 10, 2025

Conditions

Prenatal DisorderAneuploidy

Keywords

Real life comparative effectivenessNon-invasive prenatal screeningFetal aneuploidyRandomized controlled trial

Outcome Measures

Primary Outcomes (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

    Up to 24 weeks of gestational age

Secondary Outcomes (9)

  • Gestational age at negative screening result

    Up to 24 weeks of gestational age

  • Gestational age at positive screening result

    Up to 24 weeks of gestational age

  • proportion of women with no results

    Up to 24 weeks of gestational age

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

    Up to 24 weeks of gestational age

  • Change in PROMIS-29 Score

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

  • +4 more secondary outcomes

Study Arms (2)

Standard of care (2nd tier NIPS)

ACTIVE COMPARATOR

For 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).

Diagnostic Test: Traditional integrated prenatal screeningDiagnostic Test: Second-tier Non-invasive prenatal screening (NIPS)Diagnostic Test: Invasive prenatal testing for fetal aneuploidy

First-tier NIPS

EXPERIMENTAL

For 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).

Diagnostic Test: First-tier Non-invasive prenatal screening (NIPS)Diagnostic Test: Invasive prenatal testing for fetal aneuploidy

Interventions

Traditional integrated prenatal screeningDIAGNOSTIC_TEST

biochemical prenatal screening with or without nuchal translucency by US

Also known as: IPS
Standard of care (2nd tier NIPS)
Second-tier Non-invasive prenatal screening (NIPS)DIAGNOSTIC_TEST

genomics based NIPS after a positive traditional prenatal screen

Also known as: second tier non-invasive prenatal testing (NIPT)
Standard of care (2nd tier NIPS)
First-tier Non-invasive prenatal screening (NIPS)DIAGNOSTIC_TEST

genomics based NIPS at first trimester

Also known as: first tier NIPT, Universal NIPS, Universal NIPT
First-tier NIPS
Invasive prenatal testing for fetal aneuploidyDIAGNOSTIC_TEST

amniocentesis or chorionic villi sampling (CVS)

First-tier NIPSStandard of care (2nd tier NIPS)

Eligibility Criteria

Age19 Years+
Sexfemale
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

Kelowna Regional Fertility Center

Kelowna, British Columbia, V1Y 1P2, Canada

Location

Prince Rupert Regional Hospital

Prince Rupert, British Columbia, V8J 2A6, Canada

Location

Children's & Women's Health Centre

Vancouver, British Columbia, V6H 3N1, Canada

Location

CHU Ste-Justine

Montreal, Quebec, H3T 1C5, Canada

Location

CHU de Québec - Université Laval

Québec, Quebec, G1L3L5, Canada

Location

CIUSSS Côte-Nord

Sept-Îles, Quebec, G4R 0N9, Canada

Location

Related Publications (1)

  • 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.

    PMID: 29125628BACKGROUND

MeSH Terms

Conditions

Aneuploidy

Condition Hierarchy (Ancestors)

Chromosome AberrationsPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Sylvie Langlois, MD FRCPC

    University of British Columbia

    PRINCIPAL INVESTIGATOR

  • Francois Rousseau, MD MSc FRCPC

    CHU de Québec - Université Laval

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
RANDOMIZED
Masking
NONE
Purpose
SCREENING
Intervention Model
PARALLEL
Model Details: Open-label prospective comparative-effectiveness (utility) randomised trial between first-tier NIPS and the standard of care (2nd-tier NIPS).
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor-doctor

Study Record Dates

First Submitted

January 21, 2019

First Posted

February 5, 2019

Study Start

January 13, 2020

Primary Completion

December 31, 2023

Study Completion

June 30, 2025

Last Updated

February 12, 2025

Record last verified: 2025-02

Data Sharing

IPD Sharing
Will not share

Locations

CA(6)