Genetic Testing Simplified
A big part of early pregnancy is genetic testing. There are several tests that can be performed and the whole process can be confusing and overwhelming. In addition, some tests are covered by OHIP while others are not. Is it enough to get the ones paid by the government? Or, is it prudent to pay out of pocket for some of these tests? And, what are these tests for anyway?
The goal of getting genetic tests done early in pregnancy is to determine the risk of your baby having chromosomal abnormalities. The three main chromosomal abnormalities that current tests can detect are Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13).
The table below lists the routine non-invasive genetics tests that are done in pregnancy to help pregnant women and their partners to make informed decisions. It is ultimately the decision of every pregnant women if she wants to have any or all genetic testing done.
Disclaimer: This post is meant for informational purposes only and should not replace information or medical advice provided by your primary health provider.
Here’s a breakdown of the three most common genetic tests that you can do:
*NIPT will be covered under OHIP if the following criteria are met:
• If you have an abnormal result for eFTS or MSS
• If you are 40 years old or will be 40 years old by your estimated due date
• You have history of a previous pregnancy testing positive for chromosomal abnormalities
Please remember that the results of all these genetic tests give a ratio of risk of your baby having one or more chromosomal abnormalities. These tests DO NOT CONFIRM whether your baby has a chromosomal abnormality.
Timeline
Any time after 10 weeks pregnant you can opt for NIPT. But unless you meet the criteria above, it will not be covered by OHIP and you will have to pay out of pocket
If you are 11-13 weeks pregnant you qualify for eFTS which includes bloodwork and an ultrasound. There is no need for MSS if you do eFTS.
If you are 14 -20 weeks pregnant and were not able to do eFTS then you qualify for MSS which is just bloodwork
If the results of your eFTS or MSS yield a high risk of your baby having a chromosomal abnormality then your primary care provider will advise you to do NIPT and it will be covered under OHIP. Depending on your results your primary care provider may also refer to a genetic counselor or maternal fetal medicine specialist for further genetic testing.
Summary
Many pregnant women opt for the OHIP covered genetic testing offered in Ontario. These tests provide families with information about the risk of their unborn baby having a chromosomal abnormality. If your screenings are normal for eFTS then NIPT test may not be necessary especially if there are no other risk factors (which should be discussed in detail with your primary care provider). You can also opt for NIPT and pay out of pocket (which your primary care provider can provide you with more details). The key to success with genetic testing is ensuring that you are able to book the tests within the right time frame.
Resources
https://prenatalscreeningontario.ca/en/pso/about-prenatal-screening/nipt-funding-criteria.aspx
https://www.themothersprogram.ca/during-pregnancy/prenatal-tests/1st-trimester
https://www.pregnancyinfo.ca/your-pregnancy/routine-tests/genetic-screening/