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Elevated risk of Down Syndrome from Nuchal Translucency Scan

Anyone experience this?  My ultrasound showed a normal nuchal fold, but the bloodwork came back with a very high risk of baby having Down Syndrome.  I am trying to breathe.  We will go for genetic counseling and an amnio to know for sure, because I feel the need to know.

Re: Elevated risk of Down Syndrome from Nuchal Translucency Scan

  • I can't really help much, but I can empathize.  I had my NT screen today too and they came back with an increased risk.  What were your odds, if you don't mind me asking?  My DH and I haven't decided on what we're doing yet, still a lot to process.  Good luck to you!
    Lilypie Fourth Birthday tickers
    Lilypie Premature Baby tickers

    Became a Mrs. on 4/29/06 and a Mommy on 12/5/08

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  • I had elevated risk so we did a genetic u/s and they ruled it out due to no presence of downs markers.  If my risk was a bit higher I would have done an amnio.  GL and many vibes everything is okay!
    Mommy to Olivia 06.07.06 & Tyler 04.08.09 & Ashley 01.05.11
  • Risk was 1 in 21.  Ack.  Dr. recommended amnio and honestly since I am going to worry about it, I'd rather know sooner rather than at the birth.  Also if there is an associated heart defect, sometimes these can be treated in utero.

    It's so much to process and totally not what one wants to hear, but in the end, if the baby has Down Syndrome, it will be okay.  We will be okay.  

  • And Andrea, sorry to hear you have experienced this too.  I know how stressful it is to get unexpected news like this and have to process and deal and make decisions.
  • We also had an increased risk. My PapA came back low and put us at a slightly elevated risk. Our NT scan was normal. The Peri felt that she looked good on US and reccommended doing blood work at 16 weeks which came back fine and we have a healthy 14 month old little girl! What came back abnormal that is putting you at a increased risk?
  • The bloodwork came back abnormal.  The nuchal fold measured 1.5 (when anything over 3 is considered high.)
  • imageNygirl76:
    And Andrea, sorry to hear you have experienced this too.  I know how stressful it is to get unexpected news like this and have to process and deal and make decisions.

    Thanks.  Sorry to you as well.  I'm actually pregnant with twins, so we're worried about putting both babies at risk to test the one.  Only one came back with an elevated risk. 

    Our risk for Downs was 1 in 17.  I keep telling myself that it's still only 6% chance.  Yours is even lower.

    Lilypie Fourth Birthday tickers
    Lilypie Premature Baby tickers

    Became a Mrs. on 4/29/06 and a Mommy on 12/5/08

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  • I had this with Sammie. It was so scary but I knew I was going to have an amnio and Sammie does not have down syndrome.  It is pretty common.  I think my risk number was like 1 in 15 or something that scared the sh!t out of me.  Try to relax. Hugs!
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  • Thanks for your responses everyone.  I am trying to remind myself that it is a screening test, not a diagnostic test. 
  • see i am a little different, my NT scan and bloodwork came back normal, however, at our 20 wk us i had a few soft markers do downs, so we had the amino the next day.

    tons of vibes for you and your baby!

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  • imageNygirl76:

    Risk was 1 in 21.  Ack.  Dr. recommended amnio and honestly since I am going to worry about it, I'd rather know sooner rather than at the birth.  Also if there is an associated heart defect, sometimes these can be treated in utero.

    It's so much to process and totally not what one wants to hear, but in the end, if the baby has Down Syndrome, it will be okay.  We will be okay.  

    It sounds like you have a great attitude and outlook. I just wanted to wish both of you going through that lots of luck.  

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  • My risk came back 1 in 48 with my last pregnancy. Because of what we went through with my 2nd pregnancy I knew if the results of the nt scan weren't good I'd want a cvs. There would be no way for me to handle the stress of waiting for an amnio. So my u/s was scheduled so that I was able to do the cvs a couple hours later. It was such a relief to have the results a week later.
    Brenna Married 4.30.05

    Mom to Teagan 4.11.07 and Cora 9.30.11

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    D&E @ 22w 9.30.09 CMV infection BFP 10.15.10 C/P 4w4d

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