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Trisomy 13/18 Increased Risk

coolwhipz1coolwhipz1 member
edited March 2017 in September 2017 Moms
I had my blood drawn for my 1st trimester screening last Wednesday and got a call back from my OB office today. They told me that I am at a high risk in both of these categories, with my chances being 1/35. They want me to go see a specialist to do some further testing. Of course I have been calling that office all afternoon to schedule and only getting a voicemail. Of course I have been freaking out since getting the call earlier.  :(

Anyone else get any results back like this? 
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Re: Trisomy 13/18 Increased Risk

  • LynnBrown4LynnBrown4 member
    Never had results like this, and I don't work in the medical field. But just anecdotally, it seems I've heard many, many stories about people getting scary results like this and the baby ending up being just fine. Also, I think it's incredibly unprofessional for your OB's office to leave worrisome results like that on your answering machine (instead of giving you the results in person where the doctor can directly address your questions/concerns). Thinking of you and hope things turn out well. 
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  • coolwhipz1coolwhipz1 member
    LynnBrown4 said:
    Never had results like this, and I don't work in the medical field. But just anecdotally, it seems I've heard many, many stories about people getting scary results like this and the baby ending up being just fine. Also, I think it's incredibly unprofessional for your OB's office to leave worrisome results like that on your answering machine (instead of giving you the results in person where the doctor can directly address your questions/concerns). Thinking of you and hope things turn out well. 

    I spoke to someone over the phone, they didn't leave that message for me. The office they referred me to is the one who I am calling and only getting a voicemail. It's frustrating.

    We are waiting for the fetal DNA test results to come back, they told me that this should give a definitive answer. But they said I should go see this specialist as I might be able to know something sooner than wait for the fetal DNA results. 

    Either way I'll be very worried until we get some more news. 
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  • coolwhipz1coolwhipz1 member
    Texafornian said:
    Yes. I had positive genetic results for Trisomy 21. I also had a positive CVS. I'm so sorry you're going through this as well. My suggestion is to do the tests available to you...how far along are you? If under 13w you can do the CVS...16w up to like 23 you can do Amnio. These two tests are the only two that will definitively give you an answer and not just odds. 
    I will say...1 in 35 means that you have a 34 in 35 chance of having a perfectly healthy baby!! So don't give up!
    second thing I will say...cvs has a 1-2% risk of miscarriage and Amnio is more like .5-1% risk. If this risk is less to you than the risk if T13/18, do the test to know for sure.
    Thinking of you and please feel free to PM if you want any info...I may be able to give some input as I'm going through it. ❤
    I will be 13 weeks tomorrow
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  • InaniglooInanigloo member
    I had this with previous pregnancy. I can't remember what the odds were of T13/18 but it higher because of my PAPP-A results and age. We had harmony testing done that came back negative so it was false positive. (also confirmed false positive after miscarriage but that was not related to this) 

    So while those odds seem daunting, there is still a good chance that it may be of no concern. Hopefully you can get in touch with the specialist and get more information. I hate that you are left hanging and worrying.  
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  • Hopefulmommy1980Hopefulmommy1980 member
    Fingers crossed it was a false positive 
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  • TexafornianTexafornian member
    @coolwhipz1 when you call the office, does it give you an option to speak with a nurse? I called literally ten times last week in one day and couldn't get a person on the phone. I finally chose "speak to a nurse" option and just picked a nurse's station for one of the doctors. I left a message and I also called back to that extension again. I find the nurses will call you back WAY faster than the front desk. 
    So if I have this correct, you had the first tri screening blood draw AND a genetics blood draw? So the first tri screen gave you the increased odds and you're now waiting for the fetal DNA results? My NT scan showed an increase, my fetal DNA showed a positive detection...but to be certain I still needed the CVS or Amnio to truly confirm. I think being 13w, I think a level 2 ultrasound (what they usually do at 20w for anatomy scan...and prob what this specialist would do) will show you pretty clearly T13/18. 
    Again...I'm so so sorry for your added stress. It totally sucks... prayers you get the answers you need.


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    **TW**
    Losses:
     #1: 8wks MMC 4/16
    #2: 13+4 T21 + Hydrops 3/17
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  • OmSweetOmOmSweetOm member
    I had an increased risk ratio with my son 9 years ago. Normal NT scan but my ratio came back high risk. I went forward with the CVS and found out 2 weeks later that my son was perfectly healthy. Did you do a cell free DNA as well as the "traditional" 12 week blood test? I apologize I forget the name.

    It's a blessing and a curse these tests, because while I personally feel it's important to have the information, it's not definitive and sometimes causes so much unnecessary worry. 

     image        


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  • coolwhipz1coolwhipz1 member
    @Texafornian correct. they sent my blood for both tests, I got the increased risk from the screening and we are waiting on the fetal dna test.

    No there is no option to speak to anyone, when I call. Its a prerecorded message with hours and address and then says someone will be right with you, then it transfers me but instead of it ringing it goes straight to a voicemail. The office isn't too far from me so I'll go by before heading into work tomorrow as they are already closed today. 

    Also I didn't mention, but my NT scan there was no issue with. 
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  • TexafornianTexafornian member
    @coolwhipz1 well that's a plus that your NT was clean. I believe all three trisomies can effect edema in the baby...so if it looked good that's a plus.
    Just know that the fetal DNA test is ALSO going to give you a "chance" of having a condition but it's not definitive. I think your only definitive test will be the Amnio...I've read mixed things about the CVS being done up til 13w and also up to 13+6. I'm unsure which is correct. BUT, T13 and T18 should show up on a level 2 ultrasound...not positive but it might give you some answers. 
    Good luck tomorrow morning! 


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    **TW**
    Losses:
     #1: 8wks MMC 4/16
    #2: 13+4 T21 + Hydrops 3/17
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  • OmSweetOmOmSweetOm member
    My MFM told me CVS is up to 13+6. Which honestly really irritates me that they wouldn't do the NIPT earlier than 12 weeks because there's a pretty high chance the results would not be back until after that period, forcing to wait the extra for the amino. Just seems like something that should be discussed much much earlier then when you are in the wait. 

     image        


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  • SuperKristy85SuperKristy85 member
    coolwhipz1  I am sorry to hear this. I hope it was just a false positive and your little one is perfectly healthy. 
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  • SuperKristy85SuperKristy85 member
    That's great news!!!!!!
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  • InaniglooInanigloo member
    edited March 2017
    @coolwhipz1 Yay! Glad those results came back quickly and were able to put your mind at ease. 
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  • ShreyaRShreyaR member
    @coolwhipz1, Happy for you
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  • TexafornianTexafornian member
    Best news ever ❤


    Baby Birthday Ticker Ticker

    **TW**
    Losses:
     #1: 8wks MMC 4/16
    #2: 13+4 T21 + Hydrops 3/17
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  • mercury94mercury94 member
    Yay! Great news. So happy for you. 

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    Me 34 DH 34 
    PCOS

    DS1 born September 2017
    Baby number 2 due 4/11/20
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