Questions about genetic testing: before TTC or after

[Anonymous]

Hi Everyone,

I am looking for some advice. Both DH and I have family histories of moderate genetic issues. DH's daughter from first marriage has Asperger's (and early diagnosis of Tourette's which she outgrew). His nephew also has the same. My brother and DH's sister both have ADD/dyslexia. Luckily, no other major health conditions run on either side.

We have discussed whether to do genetic testing and when to do it: before we start trying for a baby or once we are pregnant. Any thoughts on which may be more advised? Testing before we start may avail some fears, and I think it'd be nice to know the odds of having a child with one of the issues that our family members may have. Yet, it seems like it may not be worthwhile because we definitely want to try to conceive and would likely do so unless given some terrible likely outcomes. Is it easier (and more accurate, I suppose) to do testing once pregnant? I'm 36 and DH is 46 so age is not on our side. Insurance will cover basic testing once pregnant so anything before conception would be out of pocket.

[Anonymous]

What would you test for? You do know there are no genetic tests for ASD and ADD, right?

[Anonymous]

Anonymous wrote:What would you test for? You do know there are no genetic tests for ASD and ADD, right?

This is somewhat true. You can do genetic testing on a child who has ASD, but testing yourselves will not tell you whether your future will or will not have these issues.

[Anonymous]

Genetic testing will not reveal anything about conditions like autism. However you can see if you are a carrier for chromosomal disorders.
It is usually enough for one person to get tested initially. These are recessive mutations, so the other partner will only need to be tested if something shows up.
We did the Counsyl test. If insurance doesn't cover it your out of pocket is $100 max, at least when we did it last year.

[Anonymous]

OP here. I know little about testing - we are just starting to gather research - but we have obviously discussed chromosomal testing due to increased chances of Down's and similar due to our ages. What else would be recommended to test for?

[Anonymous]

Once you are pregnant, there are several tests (both invasive and non-invasive ) that will tell you about the genetic health of the fetus.
The invasive tests are amnioscienteis and chorionic villus sampling (CVS). The non-invasive tests rely on testing fetal DNA present in maternal blood, and go under a variety of trade names such as Verifi, Panorama, Maternit21 etc.
There are pros and cons to all these approaches, and the websites for these tests have detailed information about what is covered.
A genetic counselor may be able to help decide what is best for you.

[Anonymous]

I don't think the issues you describe are covered by standard genetic testing. As a pp explained, the non-invasive (Maternit21 etc) and invasive (CVS, amnio) tests look for chromosomal abnormalities. Autism/Asperger's/ADD can't be diagnsoed that way.

[Anonymous]

You can't screen for Down's until you're pregnant, and it must be done with each pregnancy. Nothing you've identified would counsel pre-TTC testing.

For example, CF runs in my family, so I was tested before TTC to see if I was a carrier (I'm not). But that's directly inherited, unlike the other issues you identify, where we're still learning the impact of genetics, epigenetics, and environment, and possibly other factors as well.

[Anonymous]

You cannot test for those things rebirth. I would plan on something going on given family history. No big deal ... you deal with it. We did genetic testing on our child at age 3 and they found nothing. With many of these diagnosis they just don't know. None are a death sentence and since you know it is a possibility, you know to get help early on.