Hello, I arrived to this site after a very frantic search online on 45X 46XY diagnosis we received today. I followed a thread back in 2013 on this site that discussed this very topic.
We are currently 13 weeks pregnant with twin - conceived through IVF. Initially, we were told that we were having triplets (two identical and one fraternal). At 6 weeks, one of the identical stopped growing so we are now expecting fraternal twins. A week ago, we did an NT scan and found that one of the babies had a 1:96 risk of Downs. We went on to do a CVS last week. Just today, we got the results from back from the FISH and found out that this one baby had 45X 46XY mosaicism. We were told we need to do an amnio at 16 weeks to confirm. The geneticist said that in most cases (like 80%) the mosaicism in confined to the placenta. I am wondering if the mosaicism is the leftover placenta from the spontaneously reduced twin.
I have been scouring the web for information. But mostly what I find is that is rare. The outcome of the babies with this type of genetic disorders are very different. I am at a loss of what to think or what to do. My husband says not to think about it until we get the amnio results back but I know I will slowly drive myself insane during the wait. I have read that the amnio usually comes back normal (80% of the time) but I know in the 2013 thread on this site, this was not the case. I am really at a loss.
Thank you all for reading. this is my first post here but I just don't know what to think.