PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood : Towards First Tier Screening and Beyond
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Prenatal Disorder
- Sponsor
- CHU de Quebec-Universite Laval
- Enrollment
- 7849
- Locations
- 6
- Primary Endpoint
- Gestational age at diagnosis
- Status
- Active, not recruiting
- Last Updated
- last year
Overview
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).
Investigators
François Rousseau
Professor-doctor
CHU de Quebec-Universite Laval
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.
Outcomes
Primary Outcomes
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
- 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)
- Gestational age at negative screening result(Up to 24 weeks of gestational age)
- Patient-Reported Experience Measure (PREM) - Score(At 22 weeks of gestation)
- percentage of women undergoing invasive diagnostic testing(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)
- gestational age at termination of pregnancy(Up to 24 weeks of gestational age)
- Change in PROMIS Emotional Distress - Anxiety - Short Form 8a Score(At weeks of gestation 10-13, 16 and 22)