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  1. #1
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    Default Down's syndrome result on Genesyte test

    Hi everyone. My friend is 11 weeks and just got the results back from her prenatal testing with Genea. It's unfortunately reported the baby has Down's syndrome. She is devastated of course, but is clutching at straws that the test is wrong. Has this happened to anyone before? I'm aware it's meant to be very accurate...

    The ob is recommending a CVS but she doesn't really see the point.

    Any stories or advice would be so appreciated.

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    These tests are 99.9% accurate I'm afraid. I'm sorry for your friends worry. There is a wonderful blog called "enjoying the small things" from an amazing mother with a Down's syndrome daughter. When she's ready, it might be helpful x

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    I think the chances of a false positive are really low, but NIPT tests do just give a likelihood of something happening and not a certain result like a CVS.

    It's probably so hard for your friend to think of having a CVS now but at least she'd know for sure before making a decision on what to do next.

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    While the NIPT test is very accurate, it can give a 'false' positive in that it only tests the mothers blood for the chromosonal abnormality. This means that there is a possibility that only the placenta carries the abnormality and not the baby, or it may indicate that there is what is called mosaic down syndrome (only some cells are affected).

    This is why Drs use the NIPT as a first step, then reccomend having a cvs or amniocentesis, as these tests will be able to tell if the baby actually does have DS.

    Hugs to your friend, it's a lot to take in. I'd advise her to talk to her dr about the pros and cons of further testing.

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    I don't think NIPT gives a definitive "yes or no" response, it gives a likelihood/percentage, much like the traditional NT screening (but much more accurate). So unless her test came back 1 in 1 chance of Down's, there should still be some margin for error (which might be of comfort). I am surprised she is being told by her care provider there is not point in the CVS. Maybe it's rate of accuracy is no better?

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    Quote Originally Posted by BornToBe View Post
    I don't think NIPT gives a definitive "yes or no" response, it gives a likelihood/percentage, much like the traditional NT screening (but much more accurate). So unless her test came back 1 in 1 chance of Down's, there should still be some margin for error (which might be of comfort). I am surprised she is being told by her care provider there is not point in the CVS. Maybe it's rate of accuracy is no better?
    I read the OP to mean that her friend doesn't see the point, not the OB. I think for her own peace of mind she should have the CVS especially if medical termination is something she would consider, however she is probably trying to process the result and may not be at the decision making stage yet.

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    Hi OP - if she hasn't already, maybe your friend should talk to a Genetic Counsellor? They should be able to help her to understand the results and other possible tests.

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    Quote Originally Posted by lulupetal View Post
    I read the OP to mean that her friend doesn't see the point, not the OB. I think for her own peace of mind she should have the CVS especially if medical termination is something she would consider, however she is probably trying to process the result and may not be at the decision making stage yet.
    Ah yes I can see you are right.

    I did a quick google of the GeneStye test as well and it does seem to be a definitive yes or no response. Different from other NIPT styles.

    I think there is definitely a point to CVS however it carries a risk of miscarriage that has to be taken into account.

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    Quote Originally Posted by Frankenmum View Post
    While the NIPT test is very accurate, it can give a 'false' positive in that it only tests the mothers blood for the chromosonal abnormality. This means that there is a possibility that only the placenta carries the abnormality and not the baby, or it may indicate that there is what is called mosaic down syndrome (only some cells are affected).

    This is why Drs use the NIPT as a first step, then reccomend having a cvs or amniocentesis, as these tests will be able to tell if the baby actually does have DS.

    Hugs to your friend, it's a lot to take in. I'd advise her to talk to her dr about the pros and cons of further testing.
    Yes, yes and yes especially to the bolded bit. I would be pushing for an amnio over CVS because a CVS will only show the chromosomal make up of the placenta not the baby and they can be different for some of the trisomies.

    https://en.wikipedia.org/wiki/Confin...ntal_mosaicism

    It is also worth knowing if the condition is mosaic or not. Mosaic = much milder, and the outcomes are affected by the ratio of normal to abnormal cells.

    ETA I have no experience with NIPT testing, but do have a DD with a low level mosaic chromosomal abnormality that is not compatible with life in it's full form. 100% of DD's placental cells tested came back positive for the condition. DD is living proof that the genetic makeup of the placenta and baby can be different. I will stress that it is rare though.
    Last edited by SSecret Squirrel; 09-07-2016 at 10:46.

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  13. #10
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    NIPTs are NOT diagnostic.

    There was a huge issue in the US when these came out - women terminated healthy pregnancies.

    PLEASE urge your friend to get a CVS or amino. They are the diagnostic tools.

    Her OB should have explained this before the test. And this is why a lot of OBs don't love them.

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