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  1. #1
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    Default CVS test 45X,46XY waiting to do amnio - feeling sick

    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.

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    We had the same result as you on cvs back in 2010. Our fish test was abnormal but by the time they did the full testing on the cvs sample it turned out that the abnormalities were restricted to one layer of the placenta. Hope you get some more results soon.

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    Thank you Amyd! By full results, you mean the full karyotype? I hope we have the same experience as you.

    Quote Originally Posted by amyd View Post
    We had the same result as you on cvs back in 2010. Our fish test was abnormal but by the time they did the full testing on the cvs sample it turned out that the abnormalities were restricted to one layer of the placenta. Hope you get some more results soon.

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    When they do the fish test they spin the sample and only take one layer of cells. They then run the same tests on the other layers but it takes up to a fortnight, so even though our fish layer was 45xo our other layers were 46xy.

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    Ah, I see. So maybe we will get good news. Thank you so much. That makes me feel more hopeful...

    Quote Originally Posted by amyd View Post
    When they do the fish test they spin the sample and only take one layer of cells. They then run the same tests on the other layers but it takes up to a fortnight, so even though our fish layer was 45xo our other layers were 46xy.

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    We went to the dr 2 weeks after our cvs to tell him we wanted to terminate only to be told that our xo baby girl had turned into a normal boy. This was then followed by amnio and heart scans until 22 weeks to get the all clear.

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    Thank you Amyd,
    I think we will get our full karyotype - the cultured cell results - this Friday or Monday. Since reading your post, I read a document that explains (as you said) that the FISH is from cells that are I guess further from the fetus whereas the cultured cell results are probably more reflective of the fetal cells.

    Initially I was reading that most 90-95% of boys with 45x46xy are normal but then have also read that there can be more severe cognitive and developmental problems. Honestly, I think we would tx the baby if the results were confirmed but it is not as easy to decide as the trisimony - which we had made a solid decision on.

    Anyway, I am trying to hold some hope for the results you experience!

    Quote Originally Posted by amyd View Post
    We went to the dr 2 weeks after our cvs to tell him we wanted to terminate only to be told that our xo baby girl had turned into a normal boy. This was then followed by amnio and heart scans until 22 weeks to get the all clear.

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    Quote Originally Posted by tag76 View Post
    Thank you Amyd,
    I think we will get our full karyotype - the cultured cell results - this Friday or Monday. Since reading your post, I read a document that explains (as you said) that the FISH is from cells that are I guess further from the fetus whereas the cultured cell results are probably more reflective of the fetal cells.

    Initially I was reading that most 90-95% of boys with 45x46xy are normal but then have also read that there can be more severe cognitive and developmental problems. Honestly, I think we would tx the baby if the results were confirmed but it is not as easy to decide as the trisimony - which we had made a solid decision on.

    Anyway, I am trying to hold some hope for the results you experience!
    Hi tag, how are you going? Have you heard anymore?

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    Amyd - we got our full karyotype results back today...and it was NEGATIVE!! 46xy! I discussing with genetic counselor to see if we should follow up with amnio. I was all ready to do a reduction and now I feel relief...but still not 100%. But the stress level has gone down from 2000% to like 10%.

    Quote Originally Posted by amyd View Post
    We went to the dr 2 weeks after our cvs to tell him we wanted to terminate only to be told that our xo baby girl had turned into a normal boy. This was then followed by amnio and heart scans until 22 weeks to get the all clear.

  10. #10
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    Great news!!!!!


 

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