First so sorry about finding out about the disorder
was this through routine blood tests? I didnt have my last set of markers done. Is DH a carrier also? Would you both would have to be carriers in order for the baby to be affected like with cystic fibrosis? Do you mind sharing what genetic abnormality it is? If you dont want to I understand! It seems your chances are so low; Will keep you in my thoughts and prayers that all is perfect with the amnio.
Thank you! All thoughts and prayers are appreciated
I'd prefer not to identify it. This was NOT discovered through routine blood tests. My mother told me like 10 years ago that there's something about my uncle and cousin that I should look into when having kids and mentioned it again recently, but I blew it off, not understanding what she meant. My uncle and cousin are perfectly fine, but are carriers. My mother was never tested, but we now know she must be a carrier too. So, she didn't stress about it when she had kids, nor did my grandparents, one of which must have been a carrier too.
For the general population, only 1 in 50,000 people are carriers. But if your parent is a carrier, you have a 49.5% chance of being a carrier and a 1% change of having one of a few disorders. For this baby, we were able to virtually eliminate all those disorders except one, which is why his risk is only 0.5% and not 1%.
How we figured this out: I finally brought a copy of my uncle's genetic diagnosis to my OB a couple weeks ago. That's what initiated the test. DH has not been tested. It only takes one parent.
Perhaps science gives us too much info. Is it worth stressing over a 0.5% chance? This is the result of a chromosomal abnormality, so you could get a karyotype analysis. Or a full gene sequencing. But, again, is that a good idea if it will only make you stress like us over a 0.5% chance?
On the other hand, we would likely have done PGD had we known this was a possibility. And we plan to do so for baby #2.
Oh, and this might also explain our "unexplained" infertility and miscarriage and chemical, as roughly two thirds of my eggs are not capable of producing a full-term baby.