NIPT Testing in Canada: How Non-Invasive Prenatal Screening Works
Non-invasive prenatal testing (NIPT), also called non-invasive prenatal screening, is an integral part of prenatal care across Canada for assessing the risk of common fetal chromosomal conditions. As a Calgary-based precision diagnostics laboratory, OncoHelix provides Serenity NIPT as part of a broader reproductive health and molecular diagnostics portfolio, supporting clinicians, hospitals, and fertility centres nationwide.
What Is NIPT Testing in Canada?
NIPT is a blood-based prenatal screening test that analyzes cell-free fetal DNA circulating in maternal blood to estimate the likelihood that a pregnancy is affected by specific chromosomal anomalies. In Canada, this form of prenatal genetic screening is widely used for aneuploidy screening, particularly for Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13. NIPT is a screening test, not a diagnostic test. This means it estimates risk rather than confirming or ruling out a condition.
How Does Non-Invasive Prenatal Screening Work?
During pregnancy, fragments of fetal DNA from the placenta circulate in maternal blood. NIPT uses advanced molecular techniques to analyze cell-free DNA from a maternal blood sample, typically drawn in early pregnancy, to assess whether extra or missing chromosomal material is present.
From a clinical workflow perspective, non-invasive prenatal testing generally includes:
Blood collection: A maternal blood sample is obtained, often in the first or early second trimester, depending on gestational age and local protocols.
Laboratory analysis: Cell-free DNA is isolated, quantified or sequenced, and analyzed using bioinformatic algorithms to assess the relative representation of specific chromosomes.
Result interpretation: Results are reported as low risk or high risk, or similar terminology, with relevant technical caveats.
Post-test counselling: Findings are reviewed with the patient, including discussion of next steps such as imaging or invasive diagnostic testing when indicated. This is usually done by the patient's healthcare team or the maternal fetal medicine team at radiology clinics
Guideline No. 456 from the Society of Obstetricians and Gynecologists of Canada notes that non-invasive prenatal screening is currently the most accurate method for detecting major aneuploidies in routine prenatal screening, while emphasizing that it remains a screening test and that public coverage varies across Canada.²
What Does NIPT Screen for During Pregnancy?
In most Canadian screening programs and private laboratories, NIPT focuses on the most common and clinically significant fetal chromosomal anomalies associated with intellectual disability and structural abnormalities.²
Typical NIPT panels include:
Down syndrome screening (trisomy 21)
Trisomy 18
Trisomy 13
Some programs may also offer screening for sex chromosome aneuploidies or expanded panels covering additional conditions.
OncoHelix and Serenity NIPT in Canada
OncoHelix integrates Serenity NIPT into a broader precision diagnostics ecosystem that includes cancer genomic profiling, immune profiling, fertility health testing, and pharmacogenetics across Canada and internationally.
Serenity NIPT analyzes cell-free fetal DNA from maternal blood to provide risk estimates for common chromosomal conditions. Our focus is on delivering clear, clinically actionable reports that support informed decision making, while recognizing that NIPT remains a screening test and may require confirmatory diagnostic testing.
Clinicians interested in learning more can visit our service page:
Serenity Non-Invasive Prenatal Test
NIPT Within the Broader OncoHelix Diagnostics Portfolio
Non-invasive prenatal testing is one component of OncoHelix’s molecular diagnostics services across Canada. In addition to prenatal screening, we provide:
Cancer genomic profiling: Identification of tumour biomarkers and actionable variants to support targeted therapy and clinical trial matching for cancer patients.
Immune profiling: Evaluation of immune markers and patterns of dysregulation relevant in oncology and other clinical contexts
Fertility health testing: Assessment of molecular factors associated with reproductive outcomes
Pharmacogenetics (PGx): Analysis of genetic variations that may influence individual medication response
This integrated approach supports clinicians across oncology, reproductive medicine, and precision pharmacotherapy with consistent laboratory standards.
Need more information? Contact Us Today!
OncoHelix is a Canadian-owned and Canadian-operated precision diagnostics laboratory, with testing performed locally in Calgary, Alberta. We support healthcare professionals, fertility clinics, and hospitals across Canada with high-quality NIPT testing and comprehensive molecular diagnostics.
To discuss Serenity NIPT, integrate prenatal genetic screening into your practice, or learn more about our diagnostics portfolio, please Contact Us.
FAQ: NIPT Testing in Canada
Is NIPT a diagnostic or screening test?
NIPT is a non-invasive prenatal screening test. It estimates risk for specific chromosomal anomalies but does not confirm a diagnosis. High-risk results are typically followed by diagnostic procedures such as chorionic villus sampling or amniocentesis.²
What conditions does NIPT usually screen for during pregnancy?
Most NIPT testing in Canada focuses on major aneuploidies, including trisomy 21 (Down syndrome), trisomy 18, and trisomy 13, which are among the most clinically significant chromosomal conditions identified through prenatal screening.²
How accurate is non-invasive prenatal testing compared with other screening options?
According to Guideline No. 456, non-invasive prenatal screening is currently the most accurate method for detecting major aneuploidies in routine prenatal screening programs. However, it does not replace invasive diagnostic testing when confirmation is required.²
References
Gallois H, et al. Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing. Eur J Hum Genet. 2025. doi:10.1038/s41431-024-01714-8
Audibert F, et al. Guideline No. 456: Prenatal Screening for Fetal Chromosomal Anomalies. J Obstet Gynaecol Can. 2024. doi:10.1016/j.jogc.2024.102694
Nguyen HM, et al. Development of a discrete choice experiment questionnaire to elicit preferences by pregnant women and policymakers for the expansion of non invasive prenatal screening. PLoS One. 2023. doi:10.1371/journal.pone.0287653