Anonymous wrote:Wishing you well, OP. What is your next step? Can you get a second opinion on ultrasound to see if a different doctor sees something else?
Anonymous wrote:OP again - The baby has XX chromosomes according to the FISH, that essentially rules out things like Klinefelter syndrome (XXY) or Turner syndrome (just one X) as the explanation for what's going on. It'll be a few weeks before the more complete test results come back, those are the ones checking for congenital adrenal hyperplasia or other potential causes of this issue. I was feeling better at first that the FISH came back normal since at least we could say definitively it's a girl, but then went down a Google rabbit hole and discovered something called XX male syndrome and now I might be more upset than I was before. Sigh. Hoping the next few weeks go by quickly, I'm not loving existing in a world of multiple bad possibilities (albeit fewer than before, I can acknowledge that). I'm mostly wishing this turns out like the PP who was told her baby had a club foot based on an ultrasound, but then the baby was born totally normal - though that doesn't seem terribly likely.
Anonymous wrote:OP just checking in with an update, we decided to go ahead with the amnio. We'll also speak with a genetic counselor before that appointment so that we have a fuller picture of information. I'm feeling slightly less like a basketcase now, possibly because at least we've made a decision, but I'm also grateful to everyone who commented here. I think I was feeling as if it was some sort of personal failing for me not be able to just live with the uncertainty until the baby's born, and it helped a lot to hear from so many who supported the choice to do an amnio or had even made the same choice themselves in their own situations.
The appointment is a few days away, and then after that it'll just be a bit of a wait for more information and a follow-up ultrasound. I'm a bit nervous about the procedure, unsure whether to request anesthetic or not (one nurse said the anesthetic shot might be worse than the amnio itself?!), so welcome any experiences/advice you all can share.