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  1. #11
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    Quote Originally Posted by ElizaDoLittle View Post
    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
    Where are you getting that statistic???

    FYI from the GeneSyte Brochure. They say to get follow up testing to confirm.

    ImageUploadedByThe Bub Hub1468026639.497814.jpg

  2. #12
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    Thankyou everyone for your replies. They are very helpful.
    Especially in regard to having the cvs/amnio and to whether the placental cells or the baby carry
    It. To clarify, she is booked in for an appt on Monday to do further testing, and it was her, not her OB, thinking there was no point. It was just unfortunate to receive such news on a Friday and be left waiting all weekend, so she was in a bit of a state as you can imagine.

    To add, in case anyone else is searching for information, her OB has said at her age (34), the Genesyte test saying positive for an extra chromosome 21 is actually more like a 50/50 chance the baby will have Down's Syndrome ... That the test picks up microscopic fragments in the blood and will show positive if these are found. He has said the cvs is 99.9% accurate however.

    I will forward all the information you guys have posted to her.

    Thanks again!

  3. The Following 3 Users Say Thank You to basilmint For This Useful Post:

    BornToBe  (09-07-2016),ilex  (09-07-2016),SSecret Squirrel  (09-07-2016)

  4. #13
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    I'm so sorry to hear this. Truth is that even a cvs will only test the placental cells. To be certain she needs to wait for an amnio. There is a 1% chance that the cells are confined to the placenta.

  5. #14
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    Hi. First of all congratulations to your friend on her pregnancy. I know this is a scary time and she may be feeling unsure of what she wants to do. That is perfectly normal and ok. Now in terms of testing it depends on what she is choosing to do with her pregnancy. Should she be considering termination amnio or CVS will give her the most accurate results. Now if she plans to continue with her pregnancy then there is absolutely no rush. An amnio can be done at any stage and is actually safer for bubs later in pregnancy. Now I am going to pass my details to you through a private message just in case your friend wants to chat. My daughter is 10 months old and a happy healthy girl with down syndrome. I am happy to chat with her about the realities of having a baby with ds. I can also link her to an Australian prenatal support group if she is choosing to continue. There are other mums currently pregnant who can support her and of course mothers of older children. Doctors are amazing but they also see people on their worst days, not their best. Just to be clear I am in jo way judgemental of any choice she makes but I can help make sure she is getting support from the wider t21 community.
    Megan

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    monnie24  (17-07-2016),ScubaGal  (14-09-2016)

  7. #15
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    Sorry just realised I cant message. My email is megansmith_21@hotmail.com. If she would like more info please email me.

  8. #16
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    Megan thank you so much for your post. I have only just seen it. For some reason the notification only came through today.

    I will pass those details onto my friend.

    Thankyou again for taking the time to respond with so much information. It is so appreciated.

  9. #17
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    Another offer of someone to chat to your friend if she's interested. I have a 7yo girl with Ds and more that happy to speak with your friend to to provide an honest account of what it's like to have a child with Down syndrome. (Spoiler alert: NOT the end of the world)

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    ScubaGal  (14-09-2016)


 

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