Anonymous wrote:OP here - since I’m paying out of pocket, could I request the test for that specific gene without us both carrying it?

You should be able to when I was pregnant with my first, my sister did her pre-TTC carrier testing and came back as a carrier for Canaan’s. I did a complete carrier screen, also a carrier for Canavan’s. My husband did a test just for Canavan’s instead of a full screen.

PP here -- given my experience, I would definitely delay the IVF process until your partner has undergone the carrier screen. Given the timeline of PGT-M you can't really easily decide to do the testing mid-process. My clinic had me postpone starting until the probe was created.

I did a carrier screening before IVF and found that I was a carrier for cystic fibrosis. We hadmy husband tested as well and found out he was unfortunately a carrier as well. So we did PGT-M as part of the ivf process. It adds significant time prior to starting IVF. DNA samples were needed from myself, my husband and both sets of parents(that was an awkward request because we hadn't yet brought up that we were doing IVF). It took 4+ weeks to build the "probe" that's needed to perform the testing (and we were told 4+ weeks is shorter than it can take but CF is very common). It then added additional time after retrieval to have the embreyos tested (think it was an additional 4 weeks). And the whole thing cost at least $4,000 (again this is on the cheaper side of what it can cost because CF is so common). In short I certainly wouldn't jump into doing PGT-M instead of having your partner get the carrier screen. In fact I don't even think they'd be able to do PGT-M without your partner doing the carrier screen because they need to know specifics about you and your partner's specific genetic mutation.

Anonymous wrote:OP here - since I’m paying out of pocket, could I request the test for that specific gene without us both carrying it?

I'm no expert, but a carrier screening out of pocket has to be significantly less expensive than testing embryos. And even if you have no coverage for infertility or anything, lots of insurance will cover a carrier screening, so it's worth double checking.

Anonymous wrote:OP here - since I’m paying out of pocket, could I request the test for that specific gene without us both carrying it?

I’m not an expert because we didn’t have to do this but I know someone who did do PGT-M. The genetics lab built a prob specifically for the couple based on their genetic carrier status. I think they may have even gotten some blood samples from family members as well.

You should talk to a genetic counselor after you both get your results. Most of the testing companies offer this for free. The counselor can offer you specific guidance based on the mutations you carry, but most likely the odds of passing on most of these disease is astronomically low if your husband is not also a carrier. I know that some people would prefer not to pass on carrier status for certain diseases, like, for example, tay Sachs, because if you are a somewhat religious member of the Jewish community that makes it more likely your future child might have to do IVF to avoid Tay Sachs. If that is you concern, you could do PGT-M to try to avoid transferring an embryo that is a carrier. If you make lots of embryos, this might be a possibility, but if it’s hard for you to make embryos, you might eventually have to consider transferring an embryo that would be a carrier. But again, this is all so individual and depends on the disease and your husbands results. I’d try to relax until you get your husband tested and then talk to a genetic counselor.

Same as others have posted. I did carrier screening before we tried to conceive, knowing IVF was likely in our future. My husband was also referred for screening even though I did not have any markers come up in my results when we did begin the IVF process.

So, just food for thought that he may be sent by your reproductive endocrinologist or your husband’s urologist when you begin IVF. Honestly, it was just good peace of mind to know there was nothing dominant before proceeding (and for what it’s worth, we were extremely surprised to see insurance cover both screenings, as we have Tricare, which does not cover infertility beyond diagnosis), so it certainly is worth an ask to his physician, urologist, or your RE (or your insurer).

It only matters if you are both a carrier for the same recessive disease. Simply being a carrier for a disease when your husband is not is not a problem. Test your husband and if he's positive for the same diseases, then you can do PGT-M. Otherwise, it should not be an issue.