An interventional study of Traditional integrated prenatal screening and Second-tier Non-invasive prenatal screening (NIPS) in Prenatal Disorder and Aneuploidy, sponsored by CHU de Quebec-Universite Laval. Active, not recruiting at 6 sites in Canada. Open to female participants aged 19 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-02-12.
Sponsored by CHU de Quebec-Universite Laval · Not applicable, Interventional, and Screening
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.
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).
89 studies on the registry are indexed under Aneuploidy; 12 are open to participants now.
This study's enrollment of 7,849 is above the median of 180 across 38 interventional studies indexed under Aneuploidy.
Browse Aneuploidy studies →CHU de Quebec-Universite Laval is the lead sponsor of 137 studies on the registry; 27 are open to participants now.
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Exclusion Criteria:
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 screening · Diagnostic Test: Second-tier Non-invasive prenatal screening (NIPS) · Diagnostic Test: Invasive prenatal testing for fetal aneuploidy
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
biochemical prenatal screening with or without nuchal translucency by US
Also known as: IPS
genomics based NIPS after a positive traditional prenatal screen
Also known as: second tier non-invasive prenatal testing (NIPT)
genomics based NIPS at first trimester
Also known as: first tier NIPT, Universal NIPS, Universal NIPT
amniocentesis or chorionic villi sampling (CVS)
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
Time frame: Up to 24 weeks of gestational age
Gestational age at negative screening result
gestational age at final result in the sub-set of participants that have received a negative screening result
Time frame: Up to 24 weeks of gestational age
Gestational age at positive screening result
gestational age at final result in the sub-set of participants that have received a positive screening result
Time frame: Up to 24 weeks of gestational age
proportion of women with no results
proportion of women with no NIPS result at first and second attempt
Time frame: 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
Difference between gestational age (in days) at first positive prenatal screening result and final negative screening result
Time frame: Up to 24 weeks of gestational age
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.
Time frame: At weeks of gestation 10-13, week 16 and week 22
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.
Time frame: At weeks of gestation 10-13, 16 and 22
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.
Time frame: At 22 weeks of gestation
gestational age at termination of pregnancy
Gestational age at termination of pregnancy for participants having volountary termination
Time frame: Up to 24 weeks of gestational age
percentage of women undergoing invasive diagnostic testing
see outcome title
Time frame: Up to 24 weeks of gestational age
Plan to share: No
Ran from Jan 2020 to primary completion in Dec 2023, 47 months.
Of 22 interventional studies with no phase under Aneuploidy, half reached primary completion within 31 months of starting (the median), counting those still running; a quarter within 11 and three quarters within 49. This study's 47 months is above that.
How these figures are worked out, and which studies are left out of them.
This study is active, not recruiting, as verified in Feb 2025. You cannot join it, but the record below documents what was studied.
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