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Prenatal screening and diagnosis

This website is a decision-making tool and is intended for pregnant women in the province of Quebec and their partners. It will guide you in your decisions about screening and diagnosis of trisomies. This tool is currently used for research purposes only. It is not meant to be used for multiple pregnancies (e.g. twins, triplets).

What are my options for prenatal screening and diagnosis of trisomies 21, 18 and 13?

If you are just starting your pregnancy, you will soon have to choose whether or not you want to have a prenatal screening test for trisomies 21, 18 and 13 (the most frequent trisomies). Ideally, the decision should be made before your 13th week. This test can tell you your personal probability of carrying a baby with trisomy. It is important to understand that the results of a screening test do not provide any certainty. Only a diagnostic test can confirm if your baby carries a trisomy (for example: amniocentesis).

If you decide to do a screening test, and the result says that you have a high probability of carrying a baby with a trisomy, you will then have to choose whether or not to do a diagnostic test. This test confirms whether the baby you are carrying has a trisomy or not.

This website is a decision-making tool. It contains information on trisomies 21, 18 and 13 and on screening and diagnostic tests. It will also help you think about your values and preferences. The purpose of this tool is to help you make informed decisions that are based on your values and preferences, and the most up-to-date scientific evidence.

IMPORTANT! Screening for other genetic diseases, rarer than trisomies 21, 18 and 13, can be offered in a private clinic. However, for most pregnant women, screening for other genetic conditions is not recommended by the Society of Obstetricians and Gynecologists of Canada (SOGC) or the Canadian College of Medical Geneticists (CCGM). Please consult an independent genetic counsellor if you have any special concerns.

Making a decision

The decision about whether or not to screen for and/or diagnose trisomies is a personal one. There's no such thing as the wrong choice about prenatal screening or diagnosis. The choice is yours.

Your decision will not affect the quality of care and services to which you are entitled.

To help you make the decision that is right for you, we suggest that you:

  • Base your choice on your values and preferences.
  • Take current scientific data into account.
  • Discuss with your partner and the attending health care professionals.

Decision's trajectory
After your first consultation with a healthcare professional about your pregnancy (between 6 and 11 weeks of pregnancy, depending on the prenatal service), here are the 4 main decisions you may have to make :

  1. Whether or not to do a screening test
  2. Whether or not to do a diagnostic test
  3. Continue or terminate pregnancy
  4. Keep or give up the baby for adoption

A word of caution
This decision aid does not replace a discussion with the healthcare professionals accompanying you.