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01-11-2013 at 4:16 PM
melgulledg...
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melgulledge is not online. Last active: 04-19-2013, 4:04 PMNewbie

Downs Syndrome??

I had an appointment this week. I also had a f/u A/S scan. They noticed a "white spot" in her bowel. My Dr said that it could be an indication for Downs Syndrome. She said that is wasnt seen on the first A/S and my Quad Screen was negative. They done a special blood test to check for the baby's DNA in my blood. I was wondering if anyone else had had something similar.... and what the outcome was. I am really upset about this. I just don't know what to think.

 
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01-11-2013 at 4:46 PM
J+MS
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My SIL first child had an Echogenic bowel and the baby is perfectly fine. one marker is common, it's when you have multiple markers that they worry about.
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01-11-2013 at 4:56 PM
melgulledg...
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My markers (or quad screen was normal). Did they do the DNA testing on you??
 
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01-11-2013 at 5:04 PM
J+MS
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melgulledge:

My markers (or quad screen was normal). Did they do the DNA testing on you??

it wasn't me, my Brothers wife. Quad screen is not really the same as markers, markers are something they can see on an ultrasound that resemble Down syndrome. There are several they look for, having one (in your case, an Echogenic bowel) is to uncommon and does not mean your child has DS. She didn't have a DNA test, she had a specialist do another Level II u/s and the bowel had cleared up by that time. 
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01-11-2013 at 5:06 PM
MyLittleSw...
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MyLittleSweetPea is online. Last active: 06-19-2013, 1:45 PMBronze
Our first child had multiple markers and is perfectly healthy.  What the tech's told us when we were sent to the Mayo Clinic is that technology has gotten a lot better lately and that a lot of times they are just seeing a lot of things that the technology didn't used to be able to see.  Good luck!
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01-11-2013 at 5:11 PM
melgulledg...
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melgulledge is not online. Last active: 04-19-2013, 4:04 PMNewbie
Well... that is something I have been told as well. I guess as a mother to be its hard not to worry too much. I hope everything comes out ok.
 
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01-11-2013 at 6:23 PM
mariamaria
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My DS had a marker and is a healthy 3yrold. This baby also has a marker fluid on the kidney which is a marker for Down Syndrome. I've done a lot of research and am not concerned. The odds are on your side that all is fine and these markers are just variations on "normal." It's worrisome, but I'm willing to bet your LO is fine.
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01-11-2013 at 7:46 PM
Dragonfly1...
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DS had that white spot on his heart at the a/s and every subsequent u/s. It is called a "soft marker" of Downs. But if all your other testing is fine the white spot in isolation really isn't anything. My OB said she wished she wasn't required to mention it since she knew it would worry us for no reason. DS is totally fine. I know from experience how difficult it is, but try not to worry about it.

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01-11-2013 at 7:47 PM
Dragonfly1...
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MyLittleSweetPea:
Our first child had multiple markers and is perfectly healthy.  What the tech's told us when we were sent to the Mayo Clinic is that technology has gotten a lot better lately and that a lot of times they are just seeing a lot of things that the technology didn't used to be able to see.  Good luck!
We were told this too.

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01-11-2013 at 9:17 PM
daniellele...
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I have to go Tues for a level 2 ultrasound to check the same thing. :( I hope it's nothing.
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01-11-2013 at 9:37 PM
LadyDelila...
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We are also waiting for our reults on our amnio from this same finding. T&P with you while you wait for yours.
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01-12-2013 at 1:57 PM
megandscot...
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I had a positive quad screen, did the DNA test (Harmony) and it came back negative. Those few waits of waiting are so hard! T&P for you!
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01-13-2013 at 4:45 PM
davis0905
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For my first pg, I opted to be tested for Down's and it came back positive.  DD also had fluid in her kidneys which we were told was a marker for Down's.  But since she didn't show any other obvious signs (like the bridge on the nose, fingers, etc) the Dr wasn't very concerned.  It totally freaked me out but then I found out how many of my friends had false positives come back on their tests.  Needless to say, for this baby, I opted not to be tested for Down's.  I don't want the unneccessary worry. 
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01-14-2013 at 4:21 PM
melgulledg...
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melgulledge is not online. Last active: 04-19-2013, 4:04 PMNewbie

All of this is making me feel a lot better. I actually work for a dr, but she is not OB. She told me not to worry about it. They are probably just doing as a malpractice precaution. She also asked me about my amniotic fluid levels. She said that is usually one of the higher markers. It was normal. I hope and pray that everything is ok. I appreciate all the thoughts and prayers you ladies are sending my way. I really am trying not to worry, but as you probably all know is pretty hard to do. Again, I really appreciate it.

 
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