So you want to have a baby…

One of the most frequent responses that I get when people are trying to guess what a genetic counselor might do is something along the lines of “so maybe you’d see a genetic counselor if you want to have a baby… and maybe there’s some testing… or something?”.


The area of prenatal genetic counseling is probably one of the most well known. There are a variety of ways in which a genetic counselor can be helpful in the process of family planning. You can see a genetic counselor before conceiving or during a pregnancy.


Preconception –


This is an ideal time to see a genetic counselor. At this stage a genetic counselor will review your family history and can identify whether there are any risks for inherited conditions in your family or due to your ethnic background and whether there are any genetic tests that could be performed before or during a pregnancy. Some people may prefer not to know, however. So you can consider which phrase rings more true to you: “Ignorance is bliss” or “Forewarned is forearmed”. Are you someone who needs as much information as possible, or would you rather roll with the punches? An important point that is often overlooked in discussions of testing for genetic conditions is the fact that there is a baseline chance of 3 – 5% for the diagnosis of a physical or mental difference within the first year of life; and the majority of these cannot be identified before birth. So even if all the tests that you have come back negative, that does not mean that your baby is guaranteed to be completely “healthy”. (As a sidenote, one of my pet peeves is the use of the term “healthy” without really considering what it means to be healthy. In my opinion the expectation for a child to be completely healthy is delusional because every single person experiences some sort of health concern at some time during their life, but that’s a completely different blog post…) Taking folic acid supplements are recommended for all women of childbearing age, but particularly if you are trying to conceive.


During a pregnancy –


You could be seeing a genetic counselor during a pregnancy for a variety of reasons, including: to understand the impact that taking a particular drug had on the baby, for genetic testing for a particular condition that has been identified in your family, because unexpected structural differences have been identified on an ultrasound (e.g. spina bifida or club foot), however, the most common reason is to discuss the result of a screening test.


The most important thing to know about a screening test is that it only tells you a probability – it does not give you a definite answer.


For example, the blood test during pregnancy for Down syndrome will not tell you if your baby has Down syndrome or not. It can surprise people to find out that even if your blood test comes back positive for Down syndrome, the most likely outcome is that the baby doesn’t have Down syndrome (possible future exception: non-invasive prenatal testing blood test results). The idea behind screening for Down syndrome and other conditions, e.g. Trisomy 18, using this blood test is to give couples more information on which to base a decision about whether or not they would like the diagnostic test, e.g. an amniocentesis (this is a test that will give you a definitive yes/no answer). Another important point is that genetic counselors do not encourage couples to have the diagnostic test or to end a pregnancy with a diagnosis – the goal of genetic counseling is to help couples to understand the probability information (which can be a bit overwhelming!) and to make the decisions that are right for them. Many couples appreciate knowing about a diagnosis of Down syndrome in advance of the birth so that they can prepare – connect with a local Down syndrome organization (such as the Lower Mainland Down Syndrome Society: or make an adoption plan if they feel that they don’t have the resources (financial, emotional, etc.) to care for the child.


Personally, I’m very conflicted about whether or not I would have prenatal screening for Down syndrome in a pregnancy. I know that I am the type of person who likes to have as much information as possible, but at the same time I know that I can become quite anxious and that stress can negatively affect the baby’s development. This is part of the motivation for a student’s research study that I am currently co-supervising – we want to find out more about the emotional impact of prenatal screening for Down syndrome.


What do you think? Would you want to have screening? Have you had it?


Lots of excellent information about prenatal maternal serum screening can be found here:

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