Did anyone have genetic testing done prior to conceiving? My second daughter is a carrier for MCADD, and when I met with the geneticist she said we would be candidates for testing to see if only one or both of us have the gene (to see odds of having a child with the disorder vs being a carrier).
I have my annual tomorrow so I'll also bring it up then. But did you just call the OB to pursue it?
grapefruit / 4079 posts
I knew my half brother was a carrier for cystic fibrosis so I asked to be tested. I tested positive so DH had to be tested. Thankfully, he did not carry the gene.
cantaloupe / 6687 posts
I think your OB will know what lab to send the blood work through or they will be able to give you a referral to a genetic counselor or someone at the high risk group (maternal fetal medicine) who can arrange that for you.
My DH and I had genetic testing done on both of us when we went through IVF
persimmon / 1168 posts
I did after my 2nd miscarriage. It was suggested by my OBGYN. . I found out I had MTHFR.
Good luck!
nectarine / 2173 posts
I had the Counsyl limited test done (screens for 13 most common carrier diseases and is only $99) preconception.
apricot / 448 posts
@sorrycharlie: my son has mcadd and although we haven't done the testing yet, the geneticist is the one who would order our testing.
Ds2 was born in March and doesnt have it at all.
grapefruit / 4712 posts
My DH and I had Counsyl done while pregnant with this baby. I came back a carrier for a kidney issue and my husband came back a carrier for a rare blood disorder. We aren't carriers for anything the same so our children won't have either disorder but could carry the gene to their kids.
persimmon / 1286 posts
I had to have bloodwork done for a separate issue when I was considering TTC, so I asked them to do the genetic panel at the same time (I am Jewish, as is DH and there are some genetic issues we have a higher risk of). I came back a carrier for one, so then DH did the test. He was not a carrier.
grapefruit / 4466 posts
I had counsyl done. My GP referred me to a prenatal genetics clinic but I know lots of other people who got the test from their GP or GYN. It just depends on what your office does and doesn't do. Some offices will have the kit and they just give it to you, and you spit in the tube and send it in yourself (but I think they send the results to your doctor). I had mine done by a blood draw because that's what the clinic I went to does. Insurance covered 100%, as it was seen as part of preconception care, and my clinic said if they refused to pay that they would fight for it and almost always get it covered. Mine came back negative for everything, so DH didn't need to be tested.
nectarine / 2028 posts
Like @sapphire: we both did Counsyl. Glad we both did it, because my husband ended up being a carrier for CF which we never knew. When our son turned up as a carrier for CF I was way less panicked than I would have been since we knew it was an option. I highly recommend Counsyl to everyone before TTC!
pomelo / 5791 posts
I had genetic counseling/testing. I was adopted, so it was good to know something about my genetics.
cantaloupe / 6171 posts
I had genetic bloodwork done early in pregnancy. I found out I'm a carrier for polycystic kidney disease but dh isn't thank goodness--he had testing after I did. I've also had the BRCA testing done because of family history
clementine / 756 posts
I had a pan-ethnic screen from Counsyl prior to ttc. I was only a carrier for MTHFR ( which is super common and doesn't mean much) so we didn't have to test my husband. The biggies I was interested in testing for were cystic fibrosis, Fragile X and spinal musculat atrophy.
hostess / watermelon / 14932 posts
I just got home. Apparently my OB would do a test called Horizon. I called my insurance and they cover it, so we will likely get it done just for peace of mind!
persimmon / 1364 posts
This was one of the first things my OB did when I got pregnant. I was tested for 150 of the most common genetic disorders, including ones that were specific to my ethnicity. The plan was to test my husband if I came back as a carrier of any of the disorders. Luckily I tested negative for all 150 so my husband didn't have to get tested. I'm so glad I had this test done. It provided me such peace of mind.
cherry / 235 posts
No, not prior to conceiving DS1.
My brother had genetic testing done when they became pregnant and found out he was a CF carrier.
At that point I asked my OB to be tested, I was found to be a CF carrier, so DH was then tested.
Knowing the stress that my brother went through before my niece was born (both he and my SIL are CF carriers) I am more of an advocate for genetic testing than I was previously.
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