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.
The Ministry of Health and Long-Term Care is currently reviewing this recommendation.
The Ministry of Health and Long-Term Care 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.