Clinical trial NCT03831256: PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood
Official title: PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood : Towards First Tier Screening and Beyond
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: Prenatal Disorder
Aneuploidy
Keywords: Real life comparative effectiveness
Non-invasive prenatal screening
Fetal aneuploidy
Randomized controlled trial
Lead sponsor: CHU de Quebec-Universite Laval
Sponsor class: OTHER
Collaborators: name: Genome Quebec
name: Genome British Columbia
name: Genome Alberta
name: Ontario Research Fund
name: Laval University
name: St. Justine's Hospital
name: Ottawa Hospital Research Institute
name: McGill University
name: University of British Columbia
name: University of Alberta
name: Genome Canada
name: Canadian Institutes of Health Research (CIHR)
First posted: 2019-02-05
Enrollment: 7849
Sex: FEMALE
Minimum age (years): 19
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention model description: Open-label prospective comparative-effectiveness (utility) randomised trial between first-tier NIPS and the standard of care (2nd-tier NIPS).
Primary purpose: SCREENING

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.

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).

Eligibility criteria: 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.

Primary outcomes:
measure: Gestational age at diagnosis
timeFrame: Up to 24 weeks of gestational age
Secondary outcomes:
measure: Gestational age at negative screening result
timeFrame: Up to 24 weeks of gestational age
measure: Gestational age at positive screening result
timeFrame: Up to 24 weeks of gestational age
measure: proportion of women with no results
timeFrame: Up to 24 weeks of gestational age
measure: numbers of days for women with false positive result of screen to wait for result of definite test
timeFrame: Up to 24 weeks of gestational age
measure: Change in PROMIS-29 Score
timeFrame: At weeks of gestation 10-13, week 16 and week 22
measure: Change in PROMIS Emotional Distress - Anxiety - Short Form 8a Score
timeFrame: At weeks of gestation 10-13, 16 and 22
measure: Patient-Reported Experience Measure (PREM) - Score
timeFrame: At 22 weeks of gestation
measure: gestational age at termination of pregnancy
timeFrame: Up to 24 weeks of gestational age
measure: percentage of women undergoing invasive diagnostic testing
timeFrame: Up to 24 weeks of gestational age
Other outcomes:
Locations:
city: Kelowna
country: Canada
facility: Kelowna Regional Fertility Center
state: British Columbia
city: Prince Rupert
country: Canada
facility: Prince Rupert Regional Hospital
state: British Columbia
city: Vancouver
country: Canada
facility: Children's & Women's Health Centre
state: British Columbia
city: Montreal
country: Canada
facility: CHU Ste-Justine
state: Quebec
city: Québec City
country: Canada
facility: CHU de Québec - Université Laval
state: Quebec
city: Sept-Îles
country: Canada
facility: CIUSSS Côte-Nord
state: Quebec
Study officials:
affiliation: University of British Columbia
name: Sylvie Langlois, MD FRCPC
role: PRINCIPAL_INVESTIGATOR
affiliation: CHU de Québec - Université Laval
name: Francois Rousseau, MD MSc FRCPC
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.