February 2016 Moms

Downs syndrome soft markers scares

I was relieved to get my initial downs syndrome blood test back as a very low risk. Since then they found ventricles in the left side of the brain were on the larger side of normal which has now apparently rectified itself but there was also a light spot on the heart which they didn't seem overly concerned about either...one kidney was slightly larger than the other and holding urine on the larger side of normal...again told not to worry...now the femur is measuring on the low side (I think within the realm of normal again though) so 4 soft markers for downs apparently and because they have happened over the duration of my pregnancy I'm having to go to a genetic specialist for a consultation and ultrasound...when the first specialist called me to talk about these things he first tells me not to worry then mentions there are things they are concerned about...then also says there is still time to terminate the pregnancy...I broke down in hysterical tears after that phone call because I just...don't understand what is going on...im being told it's fine then it's not fine and not to worry but there are things that are a worry...my depression i can feel is taking over again I am not coping...I guess I will know for sure on tuesday but until then I am a wreck :( has anyone else had experience with this???

Re: Downs syndrome soft markers scares

  • I'm sorry. My baby doesn't have a Down syndrome diagnosis but has been diagnosed with Spina Bifida. The last few months have been overwhelming and heartbreaking so I just wanted to say that even though I'm not in the same situation as you, I feel your pain and turmoil over the possibility of what is to come. They also gave me the termination speech, which is way more soul crushing than one would think. But I pray that all is okay with your little girl and that these findings don't mean much. Just try to stay above water, and try not to google until you have more answers. She could be perfectly fine! I do know they make mistakes, and these are just markers, not definite answers. Big, big hugs.
    Baby #3 due February. Dx with Spina Bifida Myelo  "good things are coming down the road, just don't stop walking"
  • I also had measurements at 20 weeks that were concerning and soft markers for Down syndrome. We were told that ventricles were on the high end of normal and that the baby had the spot on the heart. It was very scary, so I know what you are going through. I had to get an additional blood test for DS before we went back for a follow up US. It turned out that everything was fine (test negative, measurements okay, still a small spot). I was told the spot on the heart is very common. As for enlarged ventricles, that seems to be very mixed as well. Plenty of people have had those and things turned out fine. Try not to Google things, and don't be afraid to ask questions of your doctor if you are confused! They are likely sending you for additional counseling as a precaution. Good luck!
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  • One of my girls has a spot in her heart which I was told is a soft marker. The bloodwork was negative. That said I am still all anxious and confused by that and don't know what to think. Sounds like the info you got is even more confusing. Sorry that you are going through that and hope you find clarity soon so you know what path you are on.
  • I talked to the midwife at the genetic place and she did make me feel better she said the heart wasn't even considered a marker anymore but used to be and cause the ventricles in the brain are fine now it's definitely looking very good...its just so hard not to worry.
    We have 1 test here in Australia that is covered by medicare (basically free to get done) and would give a 100% accurate conclusion to this, however it has a 1 in 200 risk of mis carriage.
    .the other is the blood test which has to be sent to America and would cost 400 dollars.
    I dont plan on ever trying for another child this will be my only one I could never go through all this and the actual symptoms of pregnancy again as I haven't had a good run of things...I am most likely going to do nothing and let nature take its course...what will be will be and I could not terminate at 28+ weeks anyway I don't even understand how that could be a possibility he is alive I feel him every day! The odds are in my favour that it is not downs and even if it is...that is how it will be...I just hope to have the strength to handle whatever happens.

    It's times like this though...I could use a bloody drink!! Thank you for the replies xoxo
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