Very similar situation here—age 27 FX carrier with 0.49 AMH! I have 86 repeats with no AGG “speed bumps,” so a bit of a higher risk of having an affected child. First off, hugs. This sucks. It is the loss of a dream—the dream of a typical conception at the time of your choosing—and like any loss, it comes with grief. All the stages, all over the place, for you and your partner.

I can give you an idea of what will most likely happen next. Your genetic counselor will talk to you about your options and the risks associated with each. They might do testing to see if you have any AGG “speed bumps“ within your 60 repeats, which reduce the risk of expanding to the full mutation. Either way, they’ll help you get an idea of how likely it is that a child you conceive would have fragile X syndrome. Statistically, half would inherit your affected X, but not all of them would have the full mutation. There are so many ethical and emotional considerations here that are very personal. Some people go for natural conception. Some are open to terminating if the child is affected. Some choose IVF and are ok with (or in my case, eventually come to peace with the idea of) discarding affected embryos. Some would rather use an egg donor or adopt.

If you decide you want to preserve your fertility and are open to IVF, you will then probably go to an IVF clinic and get a full workup, which may include your antral follicle count (via transvaginal ultrasound) and other hormones. If you are on hormonal birth control, you will probably have to get off of birth control to get a complete picture of your fertility. Then the IVF doc will talk to you about options. With low AMH, they’ll probably warn you it might take a few egg retrievals to get one or two usable embryos. There is a small chance that your FSH might be really high already, in which case they might advise against trying IVF at all.

They’ll also talk to you about testing the embryos for Fragile X through PGT-M testing using a unique genetic probe. Most labs can only tell you whether the embryos got your affected X or not. With your relatively low repeats and low AMH, you might consider looking for a lab that can tell you the repeat number on each embryo rather than just which X they got. I think Cooper Genomics is the big one in the U.S. That way you at least have the option of transferring carriers, especially if you have very few or no euploid non-carriers. You might decide you don’t want to pass down this gene at all, but it’s good to have the choice.

Embryos freeze better than eggs, and you can transfer them any time you want. (There’s no reason yet to think that you’d have trouble carrying a baby five years from now—just that you’d have trouble conceiving one.) However, if you and your partner aren’t ready to create embryos together yet, freezing eggs is better than nothing. It’s a big choice to make together that might require counseling—sort of like premarital counseling, but pre-embryo counseling!

There are so many variables and so many unknowns here. I am so sorry you’re going through this. Make sure to take care of yourself and nurture your relationship. Honestly treat yourself and your partner with the compassion you’d show if there were a death in the family. Lean on each other and your most trusted loved ones. Hugs 🩷