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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

http://www.perinatalservicesbc.ca/health-professionals/professional-resources/screening/prenatal-genetic/non-invasive-prenatal-testing-nipt 

Saskatchewan

Information for public

https://www.saskhealthauthority.ca/your-health/conditions-diseases-services/healthline-online/abh1912

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

https://iwkhealth.ca/pregnancy/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

https://nlma.nl.ca/article/nlhs-memo-new-funding-available-non-invasive-prenatal-screening-nipt-for-high-risk-patients/ 

Ontario

Prenatal Screening Ontario

https://www.prenatalscreeningontario.ca/en/pso/index.aspx

NIPT

Yes, criteria found here

https://www.prenatalscreeningontario.ca/en/pso/for-providers-how-to-order/non-invasive-prenatal-testing-nipt-guide.aspx 

Quebec

Québec prenatal screening program

https://www.quebec.ca/en/health/advice-and-prevention/screening-and-carrier-testing-offer/quebec-prenatal-screening-program 

Yes, if screen positive by provincial screen

 

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)

 

 

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