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June 2015 Moms
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down syndrome markers at anatomy scan

MysteryCatMysteryCat member
in June 2015 Moms
I am waiting to hear back from my mw about a panorama screening, but need to hear about others experiences if possible. I am 22, and at my 20 week ultrasound they found two "soft markers " for DS. The choroid plexus cyst, and a spot on the heart that can found more commonly in babies with chromosomal abnormalities. My midwife didn't seem concerned at all, and the radiologist didn't even recommend a follow up, but I'm nervous still. We would keep the baby regardless...I just really want to be prepared if this baby ends up having DS. Has anyone else had these markers? Or others? The femur length looked good, Nuchal fold measured normally, the baby opened his hands, and all of those things are reassuring. I'm just going to have this on my mind until I know for sure.
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Re: down syndrome markers at anatomy scan

  • laurendutchlaurendutch member
    There is blood work that can be done to test for chromosomal abnormalities. I would ask your Dr/midwife for more information regarding further testing.
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  • MysteryCatMysteryCat member
    The panorama screening is a full chromosomal map, basically. I'm waiting to hear back from her regarding that. She didn't recommend further testing but I just think I need to know for sure what's going on. It's likely nothing...but I'll be wondering for the next 4 months if I don't find out. I just wanted to see if anyone else had experience with the soft markers
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  • katier29katier29 member
    There have been a few threads I have seen about this if you search for them, I haven't had any personal experience with this. Hope all turns out well.
    I did have the chromosomal testing done and was told mine all came back low risk and looked great.
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  • taboullio84taboullio84 member
    The NT looked thick at the 13 week scan... But they didn't say anything else. At 20 week a different Dr said they won't check for markers anymore there BC is it far from 100% and make ppl worry for nothing , or think everything is fine then the baby is born with DS. I decided against anymore testing. I'm just thankful she looked healthy. I too been reading up on DS just on case. I knew nothing about it. :)
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  • ahall0358ahall0358 member
    At my 20 week AS my OB told me that there were two soft markers spotted for DS. Both were on the brain which made me very nervous. My blood work came back negative but we are still going to do another ultrasound to rule out all possibilities. Try not to worry too much because in most cases it is nothing. Good luck!
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  • klkonwiklkonwi member
    I don't have any experience with this but id like to say I'm thinking of you all who do and pray for the best !
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  • heidijo565heidijo565 member
    My doctor also found a choroid plexus cyst at our 19 week ultrasound. He said not to worry about it because everything else looked great. However it's very difficult not to be concerned. Please keep us posted!
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  • MysteryCatMysteryCat member
    Thanks for the input, everyone. Hopefully the bloodwork will be clear and we will at least get some peace of mind.
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  • DaveandKim08DaveandKim08 member
    They found little white spots on our little girls heart (at 20 wk scan) also confirmed she had clubbed feet. Both can be linked to chromosomal problems, like DS. Trust me, I completely understand where you are. It's hard to just relax about it, even though the Doctor said he is not too concerned b/c the panorama test came back low risk and they are not seeing anything else. I decided against the amnio due to the small risk it carries. In the mean-time I will just do my best to chill until I see her. I have heard that these 'soft markers' can be common and more than likely it turns out to be a perfectly healthy baby. The Doctors just have to disclose ALL their findings. Which can be worrisome but it's nice we have each-other. :) Well wishes to all.
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  • Knottie64157109Knottie64157109 member
    Our baby girl has the echo heart defect. Our doc said she has never seen the two meet (DS and heart soft marker). Let go and let God.
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  • marinamarinamarinamarina member
    Had both too, cyst gone, dot not concerning, don't stress . Dot not really a marker they just have to tell you and document . Based off of one study showing connection, but not really accurate or correlated.
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  • trudytudytrudytudy member
    Sorry to bring up and old thread but my baby is due in August and I had my anatomy scan yesterday. They said my baby showed two soft markers the echo genic focus on the heart and cysts on the brain. I'm just looking for some encouragement if any of the previous posters have any. My midwife kinda left me hanging on info until she gets the official report. In the meantime I'm waiting to schedule a level II scan.
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  • teather5teather5 member
    edited April 2015
    @trudytudy I agree with a lot of the PPs. My baby has a "bright spot" or soft marker on his liver (they believe) and we were sent to level 2. Also had the option to get some additional blood testing done (MaterniTi 21 (chromosomal), Counsyl (genetic conditions), and one for infections/toxo. All posed zero risk to baby so we had them done just so we could know one way or the other and prepare. We were super worried and stressed in the unknown so I understand. Try to relax and stay calm for baby (I know it sounds impossible). Our test came back good but the spot is still there (10 weeks later) but they are apparently very common. According to my dr 1/10 healthy babies have them and they end up going away on their own.
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