I recently changed IVF clinics. The doctor ordered genetic testing and sent it to Recombine (recombine.com). The test involves collecting saliva in a test tube. 3 weeks later I got my results and I’m positive for Familial Mediterranean Fever (i am Asian) and Nonclassical Adrenal Hyperplasia.
My nurse said during the PGD, my embryos will be tested for these. After some reading, I found out that both cause infertility. The Nonclassical Adrenal Hyperplasia is not life threatening but it increases male hormones in the body (strange because my testosterone level is normal) and could cause female offsprings to have genital ambiguity (in other words, p*nis). But the Familial Mediterranean Fever is life threatening may cause kidney damage and may cause infertility due to the inflammation on the reproductive organs. I have put this in the back of my mind after the first two RE i saw just dismiss it. The symptoms for this genetic disease (FMF) is pleurisy (inflammation of the lung), inflammation of other organs. I was diagnosed by a cardiologist for pleurisy and a urologist for interstitial cystitis (bladder inflammation). The FMF could cause miscarriages due to inflammation and I believe this is one of the reasons why I kept having chemical pregnancies. I am going to ask the doctor to put me on a medication that suppress the inflammation.
I feel dissappointed with my previous RE for not doing this test because I asked them to do it but they said that I would have to know what I want tested because they can’t test for everything and there are so many genetic diseases out there. But this new RE could do it.
I ask that if you have had unexplained infertility or chemical pregnancy, do the genetic testing (first on you, and if you have a disorder, then have your husband do it too) before you move on to PGD to test for embryo quality.