TW: Maternit21 positive for Down's Syndrome — The Bump
April 2017 Moms

TW: Maternit21 positive for Down's Syndrome

Sorry not to have been so active this last week, but last week we received the news that our Maternit21 testing came positive for Down's syndrome. Honestly, it was a punch in the gut. The test said it was 99.1% accurate for predicting Down's syndrome, but from what I can find online there are cases of false positives. I'm hoping we're one of those. 

We are having a more detailed ultrasound and then meeting with a specialist on Thursday to see our options, but the only thing I can think of is that we're going to have to wait to do an amnio at 16 weeks. I'm 13w4d, so it's going to be the longest 3 weeks ever.

Do any of you know of any false positives on Maternit21? 

DS born 9/13/2012
BFP#5: 8/21/2016

Re: TW: Maternit21 positive for Down's Syndrome

  • Oh no!! I am so very sorry that you're dealing with this.  Have you had an NT scan?  You need to have it by or on 13w6d. I would demand it.  The measurement may give you some more information (for example, a small measurement would indicate a possible false positive on the NIPT). You'll still want to get the amino,  but waiting so long for heart goes out to you. 
  • That is tough. I have no experience or anything to recommend. But, I am thinking of you as you absorb this news. Hopefully it is a false positive, but either way I hope you get some clear answers so at least you know. 

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  • Like @mrsstuessy I don't have any experience but I will be thinking of you too. Keep us updated here. We're pulling for you and baby, whatever you find out. 
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  • I hope you are a false positive situation.  My dr told me the only thing that is definite is an amnio.  Keep us posted

    DD Born 5.9.12

    MC March [email protected]

    Expecting #2 4/30/17

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  • Thank you, ladies. I only had the u/s portion of the NT scan. When we arrived the PA did a hard sell for the Maternit21 test. I saw that it was going to cost $160+ out of pocket (I called my insurance from her office) and I said that I would only take it if the scan was off.

    At the ultrasound the tech took about 12 measurements, all were under 3(mm? can't be nm), which is normal. At the very end she got two measurements: one of 3.14 and one of like 3.5. I saw the PA right afterward and she said that because they had two measurements above 3 that the NT scan was going to show up as abnormal. My husband and I both thought it was suspect but thought to get the Maternit21 test anyway. 

    So now, we've been down the conspiracy theory hole in the internet and aren't even sure of anything anymore.

    DH has a cousin with Down Syndrome who requires round the clock care. He is in his mid-30's and cannot bathe or wipe himself. We are so scared.

    DS born 9/13/2012
    BFP#5: 8/21/2016
  • kayham12kayham12 member
    edited October 2016
    I'm so sorry. I unfortunately don't have a false negative story. My DD was diagnosed with Turners Syndrome with the same test. My heart goes out to you because I remember getting the call you got and feels like someone took your heart and ripped it right out of your body. 
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  • I'm so sorry for the results. I wish I had some advice for you, but I don't have any experience to share. Try not to get ahead of yourself until you get clear results in. 

    My thoughts will be with you. 
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  • No advice but know you have prayers going up for your family during this season of so much uncertainty. 
  • If you only did the US part, yes, the translucency seems high, but 3mm is high risk, not "super high, almost certain" risk...  I must be honest, I have never heard of any test giving this kind of a strong positive chance, bar amnio.  NT test normally gives high or low, with high being a 1% or so chance.  Unless you did the blood test part too?  

    Remember, these are indicators (both blood test, as long as it is yours, and the NT scan) - the only thing that can tell you for sure is amnio.  They even say on the website themselves that it is not a diagnostic.  So whilst it is bad news, try to keep positive until you see the end result.  

    Have you decided what to do if it ends up being confirmed positive, or would you rather not think about it at this point?  

    Thinking of you.  Whatever choice you end up making, WILL be the right one, just remember that! 
    Me:  35 year old FTM, a busy city banker living in London, and a constant worrier. 
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  • @smallanimal she did the blood test, too. That's the materniT test. 
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  • No advice either, just know that we're thinking of you and hope you can get as much information as you can. Please keep us posted.  <3
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  • So sorry you are going through this! Well, I actually do know of one person who had received a false positive diagnosis. Close friends of H and I, who's daughter is 5 now was said to have down syndrome with 99% accuracy. She does NOT have down syndrome. She is high functioning autistic and was diagnosed about 2 years ago. Now I have no clue if that has anything to do with it of course. I'm just giving you all the details of this particular case. I hope all goes well. I'll be thinking of you!! Sending you lots of hugs!

  • No advice, but sending good vibes!!
  • I am so sorry you are dealing with the uncertainty and stress of this.  We're here for you. 
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  • My cousin just had a perfectly healthy baby last month and many signs were pointing to a different outcome. I can't tell you for sure if they did the same test you did though. I do know they had a happy outcome.
  • I am so sorry you are going through this!  Thinking of you and your family.
    EDD 4/15/17
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  • I'm sorry you're dealing with the stress and uncertainty with all of this. Thinking of you and your DH.  

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  • I'm so sorry you're having to face this. For what it's worth, I have an uncle with down's who has been quite functional all his life, and very sweet and creative. He's always lived with family but has never had issues with normal hygiene or self care.
  • My NT scan put me at high risk and the Quad Screen put me at 1/ 300 for DS. My OB is considering this a moderate risk, aND they don't recommend an amnio unless it's 1/275 .. 
    For my age group my risk should be 1/970. 
    Both of my other pregnancies I had scans and blood work, all which put me 1/1500 or better. I'm definitely nervous. we are going to see how the anatomy scan goes in 2 weeks and if there are soft markers we will discuss further diagnostics. right now im just trying to focus on having a healthy baby and a healthy ppregnany. 
    I'm sorry you are going through this as well. 

  • @firewife86 so sorry you have to go through all this uncertainty.  But think of it this way, 1 in 300 means that in a room of 300 people with your exact same results 299 mums will walk away without a single problem.  good luck and let us know what the next scan says.  
    Me:  35 year old FTM, a busy city banker living in London, and a constant worrier. 
    My DH:  French guy, car fanatic, best husband ever.  
    Our baby boy:  Due on 17 April, currently 37 weeks.  I can't believe it - I made it to full term!!!! 
    Last measurement:  3150 gs at 37+1!  This is going to be a big baby :)
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