Post # 1
Has anyone gone for genetic testing before TTC? Also is it too late to go if you’re already pregnant? My sister found out that she has a gene mutation that doesn’t allow folic acid to be properly absorbed into her body regularly, so I want to know if I have that too.
Wondering what other bees choices were/ will be in terms of this.
Post # 3
@1112bride: I’m not sure about genetic testing before TTC if insurance would coer it. I had genetic testing after getting pregnant For the Jewish panel. The testing was $6k, I paid $1k out of pocket.
Post # 4
If you have a reason to believe there could be an issue, then I would get tested, even if it meant paying out of pocket. If it’s something that could really impact your pregnancy/baby, you definitely want to know so that you can make adjustments when the time comes.
Post # 5
- Wedding: September 2008 - A tiny town just outside of Glacier National Park
You can usually get genetic carrier testing (like Counsyl) priot to TTC and have it covered by insurance with a max $99 out of pocket per test. If specific conditions run in your family, insurance will often cover it, but it’s worth calling them to be sure.
Post # 6
I second cherrypie. I had the testing done by Counsyl and my insurance didn’t cover it but it is a max of $99 out of pocket.
Post # 7
@1112bride: I’m not, but I would if I were in your situation. We do not have any genetic issues on either side, but if there were something I knew about I absolutely would.
Post # 8
Is the disorder your sister has dominant or recessive. If it is recessive than you have a 50% chance of having it and then a 50% chance of passing to a child if you do. However, for the child to have the disease your SO would have to have the mutation as well which probably has an incredibly low carrier frequency making it highly unlikely, and he would still only have a 50% chance of passing it on. This makes the likelihood so incredibly low that its almost nothing.
If it is a dominant mutuation I would totally get tested.
Post # 9
@LittleE3: Actually if it is a true autosomal recessive then you would only have a 25% chance of having the disease also if your biological sister has it. A 50% chance of carrying a single copy of the gene (would not be affected) and a 25% chance of not carrying the gene at all.
If it is autosomal dominant, you would have a 50% change of having it, and a 50% chance of not being affected at all.
That being said many genes don’t follow strict AD/AR patterns and genetics can be more complicated.
@1112bride: I’d check with you dr and see about testing and find out how much it would cost. If it’s reasonable, I’d test for sure. Since folate is important for neural development, if one is not absorbing it, I imagine it has the potential to impact a pregnancy so it finding out before conception would be ideal, but even if pregnant, I’d rather find out sooner than later. Also genetic mutations can affect more that one thing. If it it’s something like an MTHFR mutation, it can also cause increase risk of blood clots which would be good to know as well since then you can try to prevent them.
Post # 10
@MrsWBS: i had genetic testing for the jewish blood panel bc i was considering donating my eggs to my sister who is a carrier for cystic fibrosis (as well as her husband) but it was free b/c my insurance fully covered it. Turns out I too have the gene so my husband also got tested (although we aren’t planning on ttc for a while). Thankfully he is not a carrier, we are in the clear but after seeing everything my sister has gone through I think genetic testing is crucial…I couldn’t imagine going into TTC blindly.
Post # 11
@1112bride: Are you talking about the MTHFR mutation? We did IVF (male factor infertility), so they tested us for all sorts of things, and I found out that I have the MTHFR gene. You can find vitamins that contain active folate rather than folic acid (folate is the real thing, folic acid is synthetic) that women with MTHFR can absorb. But, women with MTHFR are also at a higher risk of miscarriage due to blood clots. So I would absolutely want to get get tested for that. I’m 6w5d now, and I’ve been on baby asprin since my diagnosis, and started blood thinner injections on the day of my transfer.
I was found to have both MTHFR and 2 copies of another clotting mutation, meaning I got one from both my parents. But we have no family history of clotting related illness/death (2 relatives died of strokes, but both in their 80s). My (half) sister, on the other hand, despite possibly getting that gene from our shared parent, has had 2 totally normal, healthy pregnancies. She was able to get pregnant the old fashioned way, so she’s never had any of the tests done.