As I mentioned before, I wanted to take the time to go over reproductive options for FXS carriers. I've already gone over one, and that is to "take your chances" so to speak as my husband and I have done. Another option (though fairly costly) is what is called Preimplantation Genetic Diagnosis or PGD for short.
PGD is performed in conjunction with IVF, but with the added step of analyzing the eggs or embryos for genetic abnormalities before implantation occurs. This can mean that no embryos with Fragile X would even be implanted and thus makes the risk of passing Fragile X to your children pretty low, most PGD clinics give around 90-95% success rate in referring to how effective it is in removing the genetic issue you have requested.
It is important to note that Fragile X is certainly not the only genetic condition that is combated with PGD. Tay Sachs, cystic fibrosis, muscular dystrophy, and spinal muscular atrophy are some of the other single-gene disorders covered. Also growing, are the amount of people requesting gender selection via PGD
Unfortunately, the cost of PGD is still very high. Most clinics have different pricing, but it seems the national averages I found range around $17-$22k per cycle with somewhere around a 32-42% success rate. More insurance companies (at least in the US) are beginning to cover if you have a family history of genetic disorders but it is usually a bit of a fight and certainly does not cover the entire amount.
I hope this information is useful to someone looking into options as far as having children goes. It certainly is not an easy decision and with PGD thrown into the mix money is most certainly a factor as well. I'd love to hear from someone who has pursed or gone through PGD and post your story here for some more insight but have yet to run across a family or person who has actually gone through the process - please feel free to contact me if you would like to share your story!
Now that I've gone over the second option for carriers - I will be covering the other two options in my next post tomorrow and following up with a guest post on Friday about another family's decision in regards to reproduction.