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My CVS results showed Trisomy 9 mosaicism

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  1. #1
    mamanathan
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    My CVS results showed Trisomy 9 mosaicism

    Hello everyone. I am new and this is my first time posting. I hope this is the right place to post.

    I am 30 years old and currently pregnant. I had a CVS done last month because my only child has a chromosomal deletion 22q11.2. Hubby and I got tested to see if we are carriers for the deletion and it came back negative. Sadly ours was just a fluke. We have been so scared to try for another baby but after 3 years we decided it was time.

    Well the first set of results (FISH) came back normal. Fish test for 22q11.2 also came back normal. However I got a call a week later that out of 20 cells tested, 18 were normal and 2 cells has an additional chromosome 9 (Trisomy 9 mosaicism).

    To say we were devastated is an understatement. I have been to hell and back for the last 3 weeks. A part of me has unconsciously turned off my pregnancy. I no longer feel pregnant and am severely depressed.

    To have a chromosomal abnormality the second time again seems like I am the unluckiest person in the world. My last ultrasound at 12 weeks was normal. NT was normal. I did not do the screening tests because I did my CVS before 12 weeks and already knew my results.

    My genetic counselor advised I get an amnio after 16 weeks. I'll be getting one in 9 days to determine if the baby is affected or if the mosaic cells are confined to the placenta (CONFINED PLACENTAL MOSAICISM). She also went on to say that if the amnio is negative, it's not a guarantee the baby does not have Trisomy 9 mosaicim.

    I feel so confused and scared. There are days I have so much hope and faith that my baby girl will be just fine but as the days go by, that hope diminishes.

    I am worried the test will come back positive and I'll have be faced with a difficult decision and I'm also worried it will be negative but after birth, she may test positive for T9 Mosaicism.

    Please has anyone had a Mosaic CVS result that ended up with a normal amnio? Did you have any abnormal ultrasound findings? How is your child doing now? Did you have to carry out more tests on your little one after birth?

    I will be very grateful if I can hear your experiences even if it was a bad one.

    Thank you so much.


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  3. #2
    SC-Faith32
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    I am sorry you are in such limbo. I know its a terrible place to be. I had a marker for Downs during my anatomy scan. Went on to get the MAT21 and thankfully it came back negative. I will hold out hope for you. Will everything else looking normal, maybe it is confined to the placenta. I really pray for a good result for you and your family.
    Me-36 (endo 2002), DH-42 (perfect)
    DS (adopted 2004)
    Many IUI- bfn

    IVF#1-4 (2 bfn's 2 chemical's)
    IVF#5 13 ret, 12 mat, 11 fert, 8 biopsy'd = 6 normal frozen for FET
    May 13 FET-BFP- m/c @ 6 weeks
    Sept 13- FET in Oct. cancelled due to surprise BFP!!
    EDD 5/25/2014 (c-section sch. 5/8/14) It's a BOY
    Thanks mamanathan thanked for this post


  4. #3
    BC-tammylj
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    I'm very sorry to hear this, but I've seen some amnios and CVS results that were wrong. I would hope that with only 2 of 20 placental cells would mean that this is confined to the placenta.

    I really can't imagine going through this, but I think all you can do is wait it out as hard as that is. I just did a bit of research and it looks like there are a lot of issues for a baby with Trisomy 9. Enough that something would most likely be seen on u/s. I would think that if your anatomy scan looks good that baby may just be fine.

    Here's a thread that might help:
    Bad Amnio Results - Get a second opinion!!
    Tammy: 43
    DH: 46

    06/10-IVF#1 3x3dt, 1 frostie BFP
    01/12-10/12: 2 FETs-Cx, IVF#2-(1) 1PN arrested Cx
    01/13-FET#3 1x6dt Boy M/C

    Donor Embryo
    1st match: 12/14-FET#4 2x6dt BFN
    2nd match: 06/15-FET#5 Cx, 07/15-Salpingectomy (hydros), 08/15-FET#6 1x6dt Girl BFN, 09/15-FET#7 2x6dt Girls BFN, 10/15-FET#8 1x6dt Boy M/C
    3rd match: 05/16-FET#9 2x6dt Chem
    Double Donor: ~03/17-FET#10 2x5dt BF?
    Thanks mamanathan thanked for this post


  5. #4
    mamanathan
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    Quote Originally Posted by SC-Faith32 View Post
    I am sorry you are in such limbo. I know its a terrible place to be. I had a marker for Downs during my anatomy scan. Went on to get the MAT21 and thankfully it came back negative. I will hold out hope for you. Will everything else looking normal, maybe it is confined to the placenta. I really pray for a good result for you and your family.
    Thank you so much. I really appreciate it.


  6. #5
    mamanathan
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    Quote Originally Posted by tammylj View Post
    I'm very sorry to hear this, but I've seen some amnios and CVS results that were wrong. I would hope that with only 2 of 20 placental cells would mean that this is confined to the placenta.

    I really can't imagine going through this, but I think all you can do is wait it out as hard as that is. I just did a bit of research and it looks like there are a lot of issues for a baby with Trisomy 9. Enough that something would most likely be seen on u/s. I would think that if your anatomy scan looks good that baby may just be fine.

    Here's a thread that might help:
    Bad Amnio Results - Get a second opinion!!
    Thank you for taking the time to do some research and for replying. I really hope it is confined to the placenta too. Yes, Trisomy 9 comes with a lot of issues. As much as I want the cells to be confined to the placenta, I'm also hoping that if my baby is affected that there are signs on the ultrasound and the amnio picks it as well. I'll be having a detailed ultrasound on the day of the amnio. Honestly I'm scared of the outcome but I am just hoping for the best.
    Thanks for the link. I've read that thread many times and it gives me hope.


  7. #6
    SC-Faith32
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    Amino is this Friday? Will be thinking of you. Please update when you can.
    Me-36 (endo 2002), DH-42 (perfect)
    DS (adopted 2004)
    Many IUI- bfn

    IVF#1-4 (2 bfn's 2 chemical's)
    IVF#5 13 ret, 12 mat, 11 fert, 8 biopsy'd = 6 normal frozen for FET
    May 13 FET-BFP- m/c @ 6 weeks
    Sept 13- FET in Oct. cancelled due to surprise BFP!!
    EDD 5/25/2014 (c-section sch. 5/8/14) It's a BOY


  8. #7
    mamanathan
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    Quote Originally Posted by SC-Faith32 View Post
    Amino is this Friday? Will be thinking of you. Please update when you can.
    It's on Thursday. I can feel my heart beating faster anytime I think of that day. I just hope my baby girl is OK. Thank you so much for keeping us in your thoughts. I'll definitely update this thread as soon as I get my results.


  9. #8
    SC-Faith32
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    Thinking of you. Hope your results come back with good news.
    Me-36 (endo 2002), DH-42 (perfect)
    DS (adopted 2004)
    Many IUI- bfn

    IVF#1-4 (2 bfn's 2 chemical's)
    IVF#5 13 ret, 12 mat, 11 fert, 8 biopsy'd = 6 normal frozen for FET
    May 13 FET-BFP- m/c @ 6 weeks
    Sept 13- FET in Oct. cancelled due to surprise BFP!!
    EDD 5/25/2014 (c-section sch. 5/8/14) It's a BOY


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