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December 2022 Moms
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Genetic Screening Questions

cakelady1990cakelady1990 member
in December 2022 Moms
So my NT scan came back normal. The doctor just called me to tel me know that my blood work came back at increased risk of Down syndrome. They let me know that they aren’t saying that baby has it but there’s an increased risk. Has this happened to anyone before where the scan was wrong? Sad and confused 😔
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Re: Genetic Screening Questions

  • ElisatheBraveElisatheBrave member
    The NT was just looking for some physical markers for DS. The blood work is more reliable. Many DS diagnosis aren’t until birth because scans can miss things. I know the news is scary. But an increased risk isnt definite. My oldest (6yo) came back with an 80% risk of having DS and we refused further more invasive tests because we did IVF to conceive him and were worried about complications. He was born with DS and he is awesome. But I remember how scared I was at the beginning. Sending hugs! It will be ok. But if you have any questions, I’m here.
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  • bustabucketbustabucket member
    edited June 2022
    @cakelady1990 While I haven’t had this experience, we’re waiting on our NIPT results with the NT scan on Thursday, so there’s no telling. Just wanted to say that sadness and confusion is fully understandable—try to focus on the fact that the NT results were good, and remember that NIPT is just a measure of potential risk, not a definitive diagnostic. You should have the option of a CVS or amino if you want a definitive answer. I’ve heard countless stories of NIPT results that were false—the higher the sensitivity of a test, the lower the specificity, i.e., increased number of false positives. The NYT even published multiple articles about it: 

    https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.amp.html

    https://www.nytimes.com/2022/04/20/upshot/prenatal-genetic-tests-warning.amp.html

    I know this scary, and your feelings are valid, but try to breathe and stay hopeful. Nothing is fully known yet. I’ll be thinking about you and sending you and the babe all kinds of ❤️
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  • kdrn913kdrn913 member
    @cakelady1990 that sounds stressful. Did they offer you any further testing? 

    They just called me today to let me know that they couldn’t run my NiPT because there wasn’t enough of the baby’s DNA in the blood sample. Of course went straight to google and struggling. Getting repeat blood draw on thursday but definitely stressed
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  • letpaymarletpaymar member
    @kdrn913 how many weeks/days were you when you got the draw?? 
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  • cakelady1990cakelady1990 member
    @bustabucket thank you for the articles! It wasn’t NIPT it was the other genetic scan they give if you’re under 35 and not high risk 
    the genetic counselor is going to reach out Thursday 
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  • cakelady1990cakelady1990 member
    @kdrn913 i speak with the genetic counselor on Thursday. This testing wasn’t NIPT it was the other scan they give to people under 35 and not high risk. 
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  • kdrn913kdrn913 member
    @letpaymar 10w 2d I think 
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  • letpaymarletpaymar member
    edited June 2022
    @kdrn913 yea I was 10w 0 days. Mine came back but the FF was on the lowest of the acceptable range to be able to give results. Lol now I wish I would have waited another week. (Now I also wonder if that increases my chances of false negatives or accuracy 🙃)
    Don’t stress too much, could be a combination of it maybe being just a tad too early, everyone is different. There is always a chance of laboratory error! I fill up blood tubes occasionally at work and sometimes the level of vacuum in the tube is off and it can under or overfill. Best wishes to you! 
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  • pradmisapradmisa Just Joined
    During what week did you take these tests?
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  • firsttimemommydec22firsttimemommydec22 member
    I’m so sorry… I’m going through the same thing as you. I got the NIPT after 11 weeks and just got the results Friday that I’m 97% high risk for trisomy 21.They were able to get me in for a same day CVS and now I wait. It’s been a roller coaster and I’m sad and scared and it’s really hard. I hope you’re alright, do what you think will make you feel better. For me, knowledge is power.
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  • kmiddykmiddy member
    @firsttimemommydec22 my best friend carried a trisomy 21 pregnancy, if you need support or guidance reach out and I could put you in touch if you wanted support from someone who has been there. I am so sorry 😞  it's an incredibly hard diagnosis to face
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  • saraheifertsaraheifert member
    I did NIPT and came back high risk for Turner’s. Definitely scary. I feel better after talking to a genetic counselor yesterday-the test results qualify me to receive high risk care. This means I get the anatomy scan, with a neonatal cardiologist, at 16 weeks to confirm any issues, which is sooner than (and safer) than amnio. It’s hard because I want to be excited, but I’m also super nervous due to the high risk of miscarriage with Turners. Just focusing on taking care of myself right now as that’s all I can do! Hang in there-you’re not alone.
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  • sweetzypie1286sweetzypie1286 member
    @saraheifert if it makes you feel any better turners syndrome usually results in very intelligent petite girls❤️ My friend has it! They typically have higher IQs
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