(Closed) Did anyone do genetic testing before TTC?

posted 5 years ago in TTC
Post # 2
1669 posts
Bumble bee
  • Wedding: August 2014

I DID!!! We have a history of fragile x in our family so I got tested by myself – and I am not a carrier (luck of the draw) – I am a carrier for something else super rare though, so we are currently having my Fiance tested for that right now. 

It was so informative and I really thought the process was very easy and low stress. I requested the testing through my doctor and we used Counsyl – who I highly reccomend. A genetic counselor calls you to go over your results after they come back and she was so great and answered all of my questions.

Post # 3
1131 posts
Bumble bee
  • Wedding: January 2010

We did it! I’m Jewish, so we did the Jewish Panel (sounds like you might need the same one). I actually thought that I had done it years before TTC, but it turns out that my regular Dr ordered a bunch of random tests and charged me a boatload, but it wasn’t actually the genetic screening I needed.

When I got pregnant, my OB asked if I had done the testing, and I had my regular Dr send over the results. That’s when we realized that I needed to get it redone.

I did mine first because if I was negative for everything, Darling Husband wouldn’t need to do one. Turns out I’m a carrier for Gaucher disease. So Darling Husband was tested for that alone, and he was negative, so we’re all good.

It was a stressful wait, but I’m glad we did it. If our baby was at risk for carrying something, I would want to know as early as possible to become educated and prepared for when we had him.

Post # 4
9218 posts
Buzzing Beekeeper
  • Wedding: October 2013


LizLemon:  i wasn’t originally. i got all the information from my obgyn.  then i discussed it with Darling Husband and we decided we didn’t need the added stress (and I knew I am not a carrier of Tay-Sachs)

but then we didn’t get pregnant right away and after 8 cycles, i went to the RE who suggested testing to make sure if we need help, we have a perfect baby.  so i had the ashkenazi and general panel done and everything came back negative.

it cost $99.


Post # 6
377 posts
Helper bee
  • Wedding: July 2013

We did but only because we had 3 consecutive miscarriages including one at 20 weeks. All was normal thank god but i was really worried we wouldnt be compatible or that one of us had something wrong with them 

Post # 7
105 posts
Blushing bee
  • Wedding: May 2012

Yes! I did the carrier screening through my OBGYN. I was checking for muscular dystrophy because it runs in my family. The screening checked to see if I could be a carrier for over 150 genetic conditions. When the results came back they gave me a packet of the results to show me the chance of me being a carrier of each of those diseases/conditions. I found out the chances are VERY slim that I will pass along the gene for muscular dystrophy, but it did find that I have a gene mutation (MTHFR) that makes me deficient in follic acid. My body does not convert folic acid into the chemical that my body need to use it. They prescribed me a prenatal that gives me folic acid in the product form that my body can absorb and use. It was $99, but totally worth it to me! Now I can absorb folic acid! Which is HUGE when TTC and carrying a baby. 

Post # 8
2363 posts
Buzzing bee
  • Wedding: October 2012

My OB suggested genetic testing for Fragile X.  It didn’t cost me a penny and brought me peace of mind.

Post # 9
1051 posts
Bumble bee
  • Wedding: March 2011

I had genetic testing done after a year of TTC with no luck, first the general Ashkenazi panel, and then later the specific test for Fragile X. Ours was covered 100% by insurance so it was a no brainer for us. I would definitely get it done, just for peace of mind.

Unfortunately for us, it turns out that I am a carrier for Fragile X, passed down the male line (insanely rare) with no family history of Fragile X, Autism or any other developmental disorder. So now I know that I have a 50% chance of passing on the full mutation, and that explains my infertility. Darling Husband had more specific genetic testing done for his Y chromosome and it turns out he has am infertility related mutation too. Can’t catch a break :/

Post # 11
1037 posts
Bumble bee

This is going to probably sound like a really dumb question but… where does one go to get genetic testing? I am highly interested in getting it done before my husband and I start TTC.

Post # 12
1669 posts
Bumble bee
  • Wedding: August 2014

I just requested the Counsyl test through my regular doctor/obgyn. Actually, you can request the test without even going in to your doctor if your doctor knows you and what’s going down. For my Fiance, we just requested the test through the counsyl website, his doctor approved it, and they shipped it to the house. He didn’t even have to go IN to the doctor.

Post # 13
356 posts
Helper bee
  • Wedding: March 2014

I recently found out that cystic fibrosis runs on my maternal side of the family. So, before we TTC, I will get a genetic test done to see if I am a carrier. Since both parents have to carry the gene to pass on CF, if my test comes back negative, I don’t think we have to bother testing Darling Husband. But if I am a carrier, then we have to get him tested as well. Although he doesn’t think CF runs in his family.

I was thinking of getting a full genetic screen done ($199 here) just out of curiousity. Like mlb032488:  discovered, you never know what your genes are hiding!

Post # 14
553 posts
Busy bee
  • Wedding: September 2017

I was tested for BRCA1 & 2 gene mutuations. Both my mother and maternal grandfather tested positive for BRCA 2 during their breast cancer treatments (they’re both suriviors). I didn’t have to pay for the test ($600) as a participant in the genetic study. Now that I know I’m not a carrier we plan on using my eggs during our future IVF attempts.

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