Post # 1
Have you guys (or are you guys considering) doing genetic testing prior to TTC? I recently spoke with a friend who said she did all that before even going off the pill, just in case. I don’t have anything that I know of that runs in my family, but I am an Ashkenazi Jew, so I know I have a higher likelihood of carrying some recessive genes that could be problematic. My husband is not Ashkenazi.
I know you can do testing on the baby at a certain point, but before talking with my friend I hadn’t thought about doing testing beforehand.
Post # 2
I did it and so did my husband before we conceived our first. My insurance would not cover it, and after the specialist’s office did the requisite appeals, we did self-pay about $150 each. We each had a couple of things that would only manifest in offspring if both of us had it, but we did not overlap at all so there were no concerns.
Post # 3
No, I think it’s unnecessary unless there is a strong family history of a disease that has a high likelihood of being passed on and that you wouldn’t want to risk.
Post # 4
We did. No family history either but the thing is a longtime ago the fetal death rate was higher (which is why average life expectancy was so low). A good example is Cystic Fibrosis… now life expectancy is 30 years but when my grandmother was born often the baby didn’t make it home. I’m a fan of knowing.
Post # 5
I had genetic testing done prior to going off the pill for cystic fibrosis, spinal muscular atrophy and fragile X syndrome. I have family history of cystic fibrosis and my doctor mentioned it was something we could do just so we could be prepared if it turned out we were carriers of these genes, so we decided to go ahead with it. We only had me tested in the beginning, as cystic fibrosis and spinal muscular atrophy require both parents to be carriers (so if I wasn’t a carrier it wouldn’t matter whether DH was) and fragile X syndrome only requires the mother to be a carrier (so DH will not pass this gene on anyway). All my tests came back clear so DH didn’t get tested.
We didn’t have any other genetic testing done. I know there are other tests, but my doctor never really discussed them with us (probably because cystic fibrosis is really the only genetic disease in either of our families that we know of). We also live in Australia, so I know the tests are different to what’s available in the US.
Post # 6
I’m in the midst of figuring out whether or not to get genetic testing for Cystic Fibrosis, which is super common in white people and Ashkenazi Jews, even with no previous family history… If your insurance covers it, I would go for it. I’m currently looking into insurance coverage for the screening right now to see if I can get it done when I go in for First Trimester Screening.
Post # 7
Thanks all. I spoke with a testing facility and because I’m Ashkenazi, insurance will cover most of it so out of pocket isn’t bad (under $100 max). I was seeing things like $5,000 online 😬. I’m going to do it – they screen for cystic fibrosis, Tay Sachs, and 100+ other genetic conditions. It’s honestly so cool that we have the science to do this.
Post # 8
my husband and are are jewish, but both my parents were negative for taysachs so i wasn’t worried about that.
when we started testing for infertility, they asked us to do the Counsyl test which was $99. i am now pregnant with #2. even though we used frozen embryos when I was not advanced maternal age, i am now advanced maternal age. my ob didn’t get the IVF process and told me i needed genetic counseling. at 12w, we met with the genetic counselor and did the tests, since we were there. but the genetic counselor agreed with me that we didn’t really need it. that just having the NT scan at that time would have sufficed, as i did with my first.
unless you have a history in your family, or would do something with a certain diagnosis, i would rather not test.
Post # 9
We talked about it, but decided againist it. We don’t have family history of any genetic diseases and we wouldn’t avoid TTC or terminate a pregnancy if something did come up, so we decided it just didn’t make sense for us.
Post # 10
We did not have genetic testing done prior to DD, but after she was born she and I became of high interest to our geneticist due to joint contractures and some other markers that I didn’t even know I had. We both tested positive for an autosomal dominant gene mutation, and as such every baby I have will have a 50% likelihood of having the same mutation. It’s cool to know that it’s a genetic issue, but with that said, looking at my daughter and I you’d never know, and I made it to 34 without even knowing that my crooked arms was even a thing, so it’s not super important to us.
Post # 11
- Wedding: March 2015 - City Winery New York, NY
I had testing done, but all came back clear, so my husband did not.
There’s a great podcast I listen to: The Longest Shortest Time. They just did an episode on genetic testing. I highly suggest giving it a listen: https://longestshortesttime.com/episode-132-genetic-future-telling. They specifically discuss Tay Sachs and other common genetic diseases in Ashkenazi Jews.
Post # 12
we did only because we had fertility treatment and the doctor suggested it so that if we were carriers we could test the embryos. My husband is also an Ashkenazi Jew (I am not) so Tay Sachs was also the concern. Since I wasn’t a carrier for anything they didn’t bother testing my husband or the embryos. We now have one absolutely perfect baby girl!
Post # 13
DH and I are TTC and haven’t done any genetic testing. To my understanding, you can’t really do anything except decide not to have children if you have certain genes. And even if you have those genes, you may not pass them along to your children. DH and I would be absolutely willing to have children with medical issues, so for us, having the genes or not having the genes doesn’t make a difference.
Are you and your DH thinking that if the tests came back positive, you would decide not to have children? I am just wondering your thought process (no judgement either way).
Post # 14
I think the question is, what would you do with the information? If you and your husband are both carriers for generic diseases/disorders, then your baby has a 1 in 4 chance of inheriting it. If your husband is not a carrier, the chances are much, much lower.
**You don’t have to answer the below questions, just moral conversation topics for you & your hubby to discuss:
1. Would you choose to not have biological children if you are both carriers? Then, you probably want to test before TTC.
2. Would you choose to abort a wanted pregnancy with a 1-in-4 chance? Or just have 25+ weeks to prepare for what life might be like with a child with that disease/disorder?
I don’t think it’s necessary to test pre-TTC unless being a carrier would mean you choose to not have biological children.
Post # 15
My Fiance and I did testing. We discussed ahead of time that it wouldn’t change our plans to have children, but it’s something that we’d rather know and be prepared for if there was a chance we could pass on something to our children. And, say, if we both were carriers for something especially devastating or debilitating (such as Tay-Sachs) we’d likely consider looking more into adoption options or potentially pre-implantation genetic testing. Our test results ended up being pretty OK but it just would’ve been something for us to discuss with a doctor or genetic counselor, we wouldn’t have made any rash decisions about anything as a result.