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  1. #1
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    Default Nuchal translucency scan - results high risk

    Hi all. Yesterday we went for our nuchal translucency scan, and while baby looked perfect, my blood results turned up high risk for trisomy 13 and trisomy 18. We are having an amniocentesis in 2 and a bit weeks to find out for sure. I'm absolutely devastated at this point. Has anyone had high risk results and then had an amnio come back clear? I need some hope!

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    No experience sorry, but have you thought about the NIPT (Harmony/Verifi) blood test - costs about $400, but re sults come back in 10 days from the states and it is based on babys DNA. 99% accurate. Just something else to consider. Good luck, I hope everything comes back clear.

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    I asked the OB about the blood test but she recommended us to get the amniocentesis for more accurate results.
    The wait is going to be agonising. I want to have hope but at the same time I don't want to set myself up for a massive fall if the results come back positive.

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    The fact that anatomically the baby looks fine works in your favour, I wish you all the best and that the next 2 weeks flies by for you.

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    ssehl  (31-03-2015)

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    Would you mind sharing your NT result?

    I had a result of 1:110, which was considered high risk. I had a CVS and the results came back clear of any trisomies. It was my blood work that through the results out, including low Papp-A.

    Whilst I was pretty much beside myself with worry at the time, now that I look back I realise there was a less than 1% chance that my baby had a trisomy.

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    To be honest I cannot remember, I had a mini breakdpwn in the office. I wish I'd written it down. Down syndrome risk is low, it's trisomy 13 and trisomy 18 they are worried about. Nuchal measurement was 2.3 I think, and baby looked great and was very active, the sonographer didn't seem concerned or say anything anyway. It was my bloods that threw it all out. I have low papp-a also, .28 I think it was.

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    Nuchal translucency was 1.9mm, that was on the report but I don't have any of the other info

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    My NT for DD was high at the 12wk scan, lead us to fetal monitoring and amnio etc. was diagnosed with a cystic hygroma which miraculously self resolved. She is now a perfectly healthy 1yo. Was a lot of angst for a wonderful outcome. Wishing you the same outcome.

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    It's important to remember that the NT is just a screening test. Don't freak out just yet! Lots and lots of women have worrying and high risk results from their NT+ and go on to have perfect healthy babies! There are lots of different reasons why your blood work came back the way it did, for example your low papp-a results could just be an indication that bubs is just going to be on the small side. It's a great sign that bubs looks fine physically, your NT measurement is even smaller than my bubs was and I wasn't considered high risk. Fingers crossed for you!

    Good luck with your amnio.

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    I found my risk info.
    Trisomy 21 - 1:325
    Trisomy 18 - 1:138
    Trisomy 13 - 1:453

    Free beta hCG 0.5857 MoM
    PAPP-A 0.2033


 

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