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Infertility Support and Discussion
Reply to "PGS worth it?"
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[quote=Anonymous][quote=Anonymous][quote=Anonymous]you should talk to a genetic counselor - the brain malformation may not have a genetic component and the duplication may also not be picked up by PGS. They may recommend you do karyotyping instead. Since the embryo was frozen when you were way younger it has a better chance of being PGS normal - that does not mean totally normal however and that's why a genetic counselor consult is so important. [/quote] OP here. We’ve done genetic counseling. The brain malformation occurs during utero, no known genetic marker. The duplication will not be picked up with any testing they can do. We would just be looking for other abnormalities to minimize the chance of having more than one child with special needs.[/quote] Are you sure the genetic deletion couldn't be picked up with PGD? That is different from PGS/PGT-A in that it looks for a specific mutation when there is a family history of a genetic mutation, typically. But in your case, I don't know if it's worth it for one embryo. I would let the genetic counselor advise on odds and decide from there. [/quote]
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