June 2017 Moms

what to make of this, two down syndrome markers.

Hi ladies! At my 20 week anatomy scan, the dr found two soft markers for ds. A bright spot on her heart and bright spot (dense) bowels. My blood tests came back low risk, but these two markers makes the chance for ds so much higher. After our scan my dr looked at my first baby girl (now 18months old) scans, and saw she had the same dense bowels, and shes perfectly healthy. So that confuses me, that she only sees is now, 2 years later. But for this baby its an "issue" sorry for rambling, I'm just so confuse about how seriously to take this

Re: what to make of this, two down syndrome markers.

  • I am currently going through the same thing. My doctor also found 2 soft markers, one being the bright spot on the heart as well (an EIF), and mildly enlarged kidneys. We did not do any previous testing, but my doctor did not seem concerned as all other growth and development was normal. 

    My understanding is that 1 soft marker alone is somewhat meaningless, but 2 or more *COULD* be a genetic condition (Trisomy 21, 13, 18 or CF). But it is also just as likely not to mean something. My guess is that's why they brought it up to you this time...because it was 2 soft markers and not just one. 

    My doctor referred me for a more detailed scan which will be on Friday, and then I'll be meeting with a genetic counselor on Monday to go over the results, and possibly have an amnio. From my own research (I know pregnant women are not supposed to Google, but I actually found more comfort in seeing how common these soft markers are), the odds really are in our favor. Soft markers seem to be a very debatable topic by OBGYNs and whether or not they should even be using these soft markers anymore. Ultrasound technology is so advanced now, it can pick up any tiny little discrepancy. I imagine they just have to tell us because they do not want to get sued. 

    Please try and stay positive, and feel free to reach out to me if you need to talk! Just know you are not alone, and there are other mamas going through the same thing! 
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  • I'm so sorry you're both going through this uncertainty. I can't remember who, but someone on this board told a story about how their child had multiple markers and everything turned out fine in the end. A good friend of mine had a doctor tell her that her newborn definitely had DS, only to see a specialist who said no way. 

    I guess all im trying to say is, it's possible that everything will be fine!
  • I'm sorry you're both going through this. This is purely anecdotal, but I also had a friend whose child had a bright spot on the heart and kidneys and he is perfectly perfect. I do know they said it was very common in males. 

    Good luck to you both at your scans.
  • The unknown is so scary. Praying you both get a clear answer soon and that both babies are very healthy ❤
  • We have an entire thread dedicated to anatomy scans and some of those ladies have issues as well.  Might I suggest you take a look at it instead of making your own thread.  
  • Thank you all for the replies. We are not going to do an amnio because of the risks involved. It's just horrible to have this uncertainty for the rest of the pregnancy.  @ahardas sending positive thoughts to you and your baby! 
  • Keep us updated!! Praying for both of you 
  • MomofboysMomofboys member
    edited January 2017
    Wearmi1 said:
    look whose come out of lurking ^^^^^ not @michaela0704
    **Removed for TOU violation**
  • michaela0704michaela0704 member
    edited January 2017
    Momofboys said:
    Wearmi1 said:

    **Removed for TOU violation**
    QFP
  • I don't post very often, but I wanted to tell you that during my first pregnancy my daughter had one of the soft markets for Down Syndrome. She had the spots on her head. It definitely added extra stress to the pregnancy, but everything turned out fine. She is a healthy 2 1/2 year old. I hope everything turns out great for you and your little ones.
  • I am sorry you're going through this. 
  • We are not sure about the amnio yet. We have a detailed scan today and then will meet with a genetic counselor on Monday to go over the reports and see what our options are. Ideally the markers will be gone or will be so minimal they won't be of any concern, but I don't think that's going to happen since it's only been a week and a half. So we will see. I will keep you updated. 
  • Good luck today, @ahardas and I hope you get some good results and information from your genetic counselor
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