PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood (PEGASUS-2)
Prenatal Disorder, Aneuploidy
About this trial
This is an interventional screening trial for Prenatal Disorder focused on measuring Real life comparative effectiveness, Non-invasive prenatal screening, Fetal aneuploidy, Randomized controlled trial
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.
Sites / Locations
- Kelowna Regional Fertility Center
- Prince Rupert Regional Hospital
- Children's & Women's Health Centre
- CHU Ste-Justine
- CHU de Québec - Université Laval
- CIUSSS Côte-Nord
Arms of the Study
Arm 1
Arm 2
Active Comparator
Experimental
Standard of care (2nd tier NIPS)
First-tier NIPS
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).
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).