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Reply to "Genetic Carrier Screening Results - Positive"
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[quote=Anonymous][quote=Anonymous]OP here - since I’m paying out of pocket, could I request the test for that specific gene without us both carrying it? [/quote] 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.[/quote]
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