Check out our new patient resource on NIPT (June 2024).
Download the updated PDF here [2022] or download the PDF en francais here [2015]. Prenatal screening using cell-free DNA (cfDNA), also known as Non-Invasive Prenatal Testing (NIPT), is a test to prenatally detect Down syndrome and other common chromosome differences. This test assesses fragments of cfDNA derived from the placenta that are circulating in maternal blood to determine if there is an increased chance that the fetus has an aneuploidy. NIPT should be considered in pregnancies at increased risk of aneuploidy (e.g. positive conventional prenatal screen [such as enhanced First Trimester Screening (eFTS), Integrated Prenatal Screening (IPS)/ Maternal Serum Screening (MSS)], or an associated ultrasound finding). NIPT has higher sensitivity and specificity for trisomy 21 (Down syndrome) and trisomy 18 than conventional screening tests, however it is not diagnostic. Positive results should be confirmed by diagnostic testing (chorionic villus sampling or amniocentesis) prior to any irrevocable action. Negative results are reassuring, significantly reducing the likelihood of common chromosome differences. Additional follow-up testing and consultation may still be indicated as NIPT does not screen for congenital anomalies or many other genetic conditions. Some provinces fund NIPT as a second-tier screen for persons who meet certain high-risk criteria. Those who do not meet criteria can pay for NIPT themselves. Price varies by company and test selection.
Scroll to the bottom for links to your provincial prenatal screening programs and criteria for publically funded NIPT.
What is Non-Invasive Prenatal Testing by cell-free DNA?
How does NIPT work?
What are the Canadian recommendations on prenatal screening?
Red flags: When to consider offering NIPT and/or genetic consultation
Private pay NIPT
What does the test result mean?
What are the benefits and limitations of NIPT?
What about NIPT screening for sex chromosome differences?
What about additional screening by NIPT (e.g. microdeletions and microduplications)?
What about NIPT for twins or higher order multiples (e.g. triplets)?
What about NIPT and in vitro fertilization?
References
Below are links to provincial prenatal screening program and information about whether or not NIPT can be obtained with provincial funding: [Reviewed May 2024]
Province |
Provincial screening |
NIPT funded |
Alberta |
MyHealth Alberta Prenatal Screening https://myhealth.alberta.ca/genetics/prenatal-screening-and-testing |
No |
British Columbia |
Perinatal Services BC Prenatal Screening http://www.perinatalservicesbc.ca/our-services/screening-programs/prenatal-genetic-screening |
Yes, in some circumstances |
Saskatchewan |
Information for public |
No |
Manitoba |
Prenatal Genetic Screening & Diagnosis Service - Winnipeg Regional Health Authority (wrha.mb.ca) https://wrha.mb.ca/genetics-and-metabolism/prenatal-genetic-screening/ |
Yes, following positive maternal serum screen |
Maritimes (New Brunswick [NB], Nova Scotia [NS], Prince Edward Island [PEI]) |
IWK Prenatal Screening |
Yes, in some circumstances NB, discuss with maternal fetal medicine specialist NS and PEI criteria found here: IWK Health Centre - Clinical Genomics - NIPT Information for Care Providers (nshealth.ca) https://iwkhealth.ca/clinical-genomics/testing-menu/nipt-information-care-providers |
Newfoundland and Labrador |
contact local genetics centre |
Yes, criteria found here |
Ontario |
Prenatal Screening Ontario |
Yes, criteria found here |
Quebec |
Québec prenatal screening program |
Genetic services and test access and criteria for the Territories are generally administered through provincial programs
- Alberta and Northwest Territories and Nunavut (Kitimeot)
- British Colombia and Yukon
- Manitoba and Nunavut (Kiviliq)
- Ontario and Nunavut (Baffin)