DH and I are still deciding if we want to TTC. OB has suggested we meet with a genetic counselor because DH is of Eastern European descent and we both have some medical issues in our families.
Did you go through genetic testing pre-TTC? What was your experience?
I would definitely recommend it if you both have histories and there's even a remote chance of something showing up. We didn't before we got pg but we did afterwards and it was really helpful! It'll be so much better for you to know things before going into the pregnancy.
DH and I actually did genetic testing before we got married, in 2001, as we are both of Eastern European descent. Then when we found out we were expecting, we had 3 additional tests done that were not available in 2001. The procedure itself is pretty routine, it just requires them to draw blood. The program that we went through in 2001 offered a group counseling session before testing, and then individual counseling after if any of the results came back that we were both carriers. Let me know if you want more info on the subject.
When I told my OB/GYN that I wanted to TTC, she went ahead and gave me the battery of standard blood tests that they run either when you tell them you're TTC or later, when you're PG. I learned two things--I'm a cystic fibrosis carrier, and I wasn't immune to German measles (rubella). I was very surprised by both these things--there is no CF in our family and I'd had the standard MMR (measles, mumps, rubella) vaccination. I learned that something like one in 24 people is a CF carrier, and that for some reason the rubella vaccination doesn't always take the first time.
So, I needed to get DH tested for CF carrier status, and I needed another MMR. The OB/GYN didn't do either, and told me to do this with my primary care practitioner. DH was leaving the country for a year to do mandatory military service in his country (Greece, where we live now), and I was naively hoping to get pg in the 2.5 months before he left (it would shorten his service and I was beyond impatient to get pg). The stupid doctor I had for a primary care practitioner didn't want to just give me the MMR because I'd only been there once, 2 years earlier, for a UTI, and she felt she didn't know enough about my health or history to give me a standard freaking vaccination. I had to schedule a full physical first, which was performed by her nurse practitioner, who told me afterwards that I was disgustingly healthy and it was a waste of time and money for me to have had that physical (since I'd been going routinely for OB/GYN exams). Just after the nurse pulled the needle out of my arm after the MMR, she said I had to wait 3 months to TTC, which was soooo disappointing to me--it actually meant waiting a year and 3 months since I wouldn't be on the same continent as DH (turned into a year and 6 months before I could sell our apt and get organized to come over here).
The second thing that was frustrating was getting DH tested for the CF gene. The same stupid PCP didn't want to do it, DH had never been for a physical either, they didn't know anything about him, and they weren't genetic counselors. She wanted to refer me to some genetic counseling specialist at St. Luke's Roosevelt. I had a HUGE fight with this stupid woman--I NEEDED this stupid simple blood test done before he left the country, just a stupid blood draw to be sent to the same basic lab as for everything else, and I didn't want genetic counseling unless he tested positive for carrier status, also. I tried to explain this to her, as well as the circumstances with him leaving the country, etc., and she sat across her desk from me and told me I was young and she saw no reason why I needed to be in such a rush to TTC. With pictures her kids had drawn taped on the wall behind her. I was SO angry. First of all, I was 31, and it was clear at that point that I wouldn't be able to START to TTC until I was nearly 33 since DH and I had to spend that year separated. That isn't THAT young, and who the h3ll was she to give me the "calm down you're young" speech? She should decide when was an appropriate time for me to TTC and when I should begin to stress about it? All just because she wasn't willing to take a freaking blood sample from my DH and send it to a lab, which is EXACTLY the same freaking thing that the genetic counseling office at SLR would have to initially do (after no doubt an insane wait to get an appointment at such a place)?
Finally she agreed to have the bloodtest done in her office. He tested negative (thank God). My stupid mandatory physical results came back saying I was healthy in every possible way, which I already knew, but whatever. They did confirm that I was, at that point, immune to rubella. Do you know what's weird? When I did get pregnant (after not toooo many very stressful months of TTC) and they did the initial pregnancy bloodwork here in Greece, guess what, no immunity to rubella. Bizarre. It's a minor disease for an adult, but can be very damaging or fatal to a fetus, so I have to just hope that I don't get exposed to it during my pregnancy and then try again with yet another MMR after I deliver.
I would go ahead and do the genetic counseling, because it is scary to test positive for something when you aren't expecting it, and if it happens to you it is best to know certainly before you're pregnant and ideally with lots of time to think about it and deal with it so that you know what your situation and options are. Probably this is especially true if you have family histories that worry you a bit. Also, if you decide to do it, get on with it ASAP, because a simple bloodtest can lead to a web of appointments and dr office hassles, as I learned.
We did it, and though it opens some scary doors...I am very glad we did.
My 1/2 brother carries a genetic disorder that his wife also carries, this there is a 1 in 4 chance each of the kids they have will die before age 2 (they lost their 2nd child to this, which is the only way they found out about it).
So we went through the whole battary and then some. Having the information is very good, IMO. You know what to prepare for, what your odds are, etc.
I went in alone with the family trees of me and DH. The counselor went through everything they have ever had or died from, to determine which tests - other than the one we knew we needed - we should take. Just gave blood to do the tests, and waited for the results. Depending on the results, they take you into counseling if need be.
Luckily I am free & clear so no next step was needed.
I had a genetic blood test done five over five years ago (just before I met DH), and met with the genetic counselor a few times. She discussed the issues in fine detail, including how it might affect TTC. She discussed prenatal testing & pre-implantation testing, and the emotional ramifications of each. DH & I have discussed the issues at length and feel pretty comfortable with the decisions we have made thus far, and we plan to meet with a genetic counselor again probably after I'm pg.
I definitely recommend meeting with a counselor if you have any concerns. It's one thing to know the facts (which the counselor will discuss with you, but which you can also probably learn on your own); it's quite another to truly understand the emotional ramifications of any decision you might make. The counselor will help put things into perspective, give you background on what other couples have chosen to do in your situation, and sound advice on what you should do based on your own feelings.
We did do genetic testing, mainly because DH's family is Mennonite and his brother has a common, but sometimes fatal (but comes in so many varying degrees though) genetic disease. There are many many other diseases we were concerened about too though, as the Amish/Mennonite communities have a very small genetic base (concept similar to being eastern european). Luckily we are both free and clear!
It was risky though, since in Canada, once you are aware of a genetic condition, it is much harder to get life insurance. This was an issue when deciding to have BIL tested for the disease.
Yes, we had genetic counseling and testing. (We are not TTC yet but soon).
My brother has autism and like many families with autism, no one knows why. I was tested for Fragile X Syndrome. If you want the details on what Fragile X is I can give that to you.
The counselor was great and all the testing entailed was a blood test for me. I do not carry Fragile X, luckily but because of my brother's autism the counselor was able to give us some % chances of us having an autistic child. That was very helpful.
Someone once told me not to have the testing done unless you already know what you'd do with the results. I don't know if I follow that or not but something to think about.
Hope that helps!
Did you see a genetic counselor before TTC?
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