Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions

Final Recommendation

Health Quality Ontario, under the guidance of the Ontario Health Technology Advisory Committee, recommends that Ontario continue publicly funding noninvasive prenatal testing for pregnancies at high risk for trisomies 21, 18, and 13, and sex chromosome aneuploidies
Health Quality Ontario, under the guidance of the Ontario Health Technology Advisory Committee, recommends against publicly funding noninvasive prenatal testing for pregnancies at average risk for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions

Any pregnant person has a small chance of having a baby with a chromosomal anomaly (a change in the usual structure or number of chromosomes that carry genetic information). Prenatal screening tests check whether a fetus (an unborn baby) may have a chromosomal anomaly. Positive results from prenatal screening should be confirmed by diagnostic testing.

A new screening method called noninvasive prenatal testing is a maternal blood test that helps to screen for specific genetic conditions. Currently, noninvasive prenatal testing is publicly funded only for people whose pregnancy is at higher risk for a chromosomal anomaly, including pregnant people aged 40 years or over and those who have had a previous pregnancy with a chromosomal anomaly.

This health technology assessment evaluates how accurate and useful noninvasive prenatal testing is for detecting several chromosomal anomalies in pregnant people whose pregnancy is at average risk of a chromosomal anomaly, and whether the test provides good value for money. It also explores the preferences and values of pregnant people, their families, and the parents of children affected by the conditions for which noninvasive prenatal testing screens.

Read the full Health Technology Assessment report and Systematic Review and Qualitative Meta-synthesis report for more information.

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment (PDF)
February 2019

Perspectives of Pregnant People and Clinicians on Noninvasive Prenatal Testing: A Systematic Review and Qualitative Meta-synthesis (PDF)
February 2019

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The Ministry of Health has accepted this recommendation.

The Ministry of Health has provided the following response: The Ministry has a standardized process in place to review Health Quality Ontario recommendations. This takes into consideration Ministry priorities, implementation options, the need for consultation with impacted stakeholders, and funding considerations.

Health Technology Assessment at Health Quality Ontario

As part of our core function to promote health care supported by the best available evidence, we use established scientific methods to analyze the evidence for a wide range of health interventions, including diagnostic tests, medical devices, interventional and surgical procedures, health care programs and models of care. These analyses are informed by input from a range of individuals, including patients and clinical experts. The Ontario Health Technology Advisory Committee — a committee of the Health Quality Ontario board of directors — reviews the evidence and makes recommendations about whether health care interventions should be publicly funded or not. Draft recommendations are posted on the Health Quality Ontario website for feedback. Final recommendations are approved by our board of directors and then shared with the Ministry of Health and Long-Term Care. For more detailed information, visit our Evidence to Improve Care pages.

Evidence to Improve Care