Question for Those Who Have Downs Syndrome Children... — The Bump
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Question for Those Who Have Downs Syndrome Children...

Hi Ladies!

I'm looking for a little advice, and hoping very much that I'm worrying about nothing. At our A/S two weeks ago, my OB told us that they saw two soft markers (her heart, and kidneys) and referred us for another ultrasound with a specialist this past Tuesday. While at that appointment, we were informed the found another soft marker with our little girl's stomach.

I asked how common it is to see all three soft markers in a baby, and the doctor flat out told me she had no clue. When I asked if this increased the chances of our little girl having Downs (now having 3 soft markers) the doctor skirted the question and didn't really answer. I'm taking this to mean yes.

What I'm wondering, is for you ladies that have a baby with Downs Syndrome, did any or all of these markers show up? Any experiences that you have to share with this subject are greatly appreciated! Thank you!! 

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Re: Question for Those Who Have Downs Syndrome Children...

  • We saw lots of markers at our anatomy scan- shortened long bones, shortened nasal bone, heart defect, thickened nuchal fold and bright spot on the heart (echogenic intracardiac focus). We had an amnio to confirm the same day.

    Our baby girl is the light of our lives! She did have open heart surgery but now she is a healthy four month old who is pretty dang cute if I do say so myself. And life is so normal!

    Check out the Down syndrome pregnancy board on babycenter too. You'll obviously get more people saying yes because it's a board specifically for parents of kids with Down syndrome or increased odds during pregnancy.

    Lauren has Down syndrome and a complete AV canal heart defect
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  • The thing to understand is that there are *many* markers associated with DS. They don't indicate a child has the condition, they are merely seen more frequently in DS patients than they are in others.

    My son had two 'soft' markers for DS as well - a spot on his heart (his heart turned out to be fine) and his kidney issue, which was surgically repaired earlier this year. He does not have DS. What we were brought to understand was that yes, the more signs you see the greater the odds of a chromosomal abnormality. But because many of these markers show up in otherwise normal babies, they often indicate nothing at all. My personal guess is that if no one has suggested testing to you, they aren't concerned about your odds. When my doctors told us about the DS link, we came away with the impression that it was something they had to tell us for liability reasons, even though they didn't think he had the condition. (That didn't stop us from worrying though, as I'm sure you know!)

    Raising a threenager since 11/11
    Baby boy #2 due 5/6/15
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  • My LO does not have DS but had the following soft markers: dilated kidney, cysts on the brain and IUGR.  My MFM said we had roughly a 20% chance of having a baby with a chromosom problem but we decided to do no testing. The cysts eventually went away and now at 8 months, his kidney issue has been worked out. 

    Prsying for a healthy LO! 

     

  • imagegoldenleaves:

    We saw lots of markers at our anatomy scan- shortened long bones, shortened nasal bone, heart defect, thickened nuchal fold and bright spot on the heart (echogenic intracardiac focus). We had an amnio to confirm the same day.

    Our baby girl is the light of our lives! She did have open heart surgery but now she is a healthy four month old who is pretty dang cute if I do say so myself. And life is so normal!

    Check out the Down syndrome pregnancy board on babycenter too. You'll obviously get more people saying yes because it's a board specifically for parents of kids with Down syndrome or increased odds during pregnancy.

    Thank you so much for your input! It is really comforting to hear from others who have been there, and to even hear that if we get the news that we don't want to that everything can still turn out alright! ...And judging by your pic in your siggy your little girl IS darn cute! :) 

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  • imageArcadianDreams:

    The thing to understand is that there are *many* markers associated with DS. They don't indicate a child has the condition, they are merely seen more frequently in DS patients than they are in others.

    My son had two 'soft' markers for DS as well - a spot on his heart (his heart turned out to be fine) and his kidney issue, which was surgically repaired earlier this year. He does not have DS. What we were brought to understand was that yes, the more signs you see the greater the odds of a chromosomal abnormality. But because many of these markers show up in otherwise normal babies, they often indicate nothing at all. My personal guess is that if no one has suggested testing to you, they aren't concerned about your odds. When my doctors told us about the DS link, we came away with the impression that it was something they had to tell us for liability reasons, even though they didn't think he had the condition. (That didn't stop us from worrying though, as I'm sure you know!)

    Thank you! The specialist we saw the other day did recommend a blood test,m and then an amnio at 34 weeks, but the blood test is (as far as I understood) a newer, more accurate version of a quad screen. So it doesn't really tell us for sure, just odds. And the thought of that would just stress me out more. So, we decided to pass on that. I am glad to hear that your son shared two of the same markers as our little girl and everything turned out great! :) We have another ultrasound with the specialist in four weeks... I'm really hoping we get good news then! :) Thanks again for your response!

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  • Thank you so much for your insight! I really appreciate it! I am also very happy to hear that your little one's cysts went away! :) Our doctor hasn't given us any specific numbers on what chance we have of having a DS baby, so that's why I was asking all of you if you had any insight. I'm guessing since we had three soft markers, our odds are relativity low, as yours were with two. It may just be just uneducated optimism, but I'm hoping that means good things. Thank you!
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  • Our DD had 5 soft markers at her 20 weeks scan. Her markers were: short long bones, eyes too wide, nuchal fold size, shriveled kidneys, and suspected tri-chambered heart. We asked our high risk doc if he had ever heard of 5 markers turning out okay. He said that he was sure that it had happened but that he was not familiar with any such occurance.

    We opted for the amnio with Fish results, but we opted not to get the micro array. The results came back all clear. DD did not have any of the syndromes that the amnio tests for (which is 98% of known genetic syndromes). We knew that there wqs still a slight chance that DD could have a genetic syndrome, but we figured we would deal with it when she got here.

    While she did have some issues at birth, none of them were related to her soft markers. Rather. they were a consequence of her very large size at birth. Hang in there. 

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  • imagemollybloom:

    Our DD had 5 soft markers at her 20 weeks scan. Her markers were: short long bones, eyes too wide, nuchal fold size, shriveled kidneys, and suspected tri-chambered heart. We asked our high risk doc if he had ever heard of 5 markers turning out okay. He said that he was sure that it had happened but that he was not familiar with any such occurance.

    We opted for the amnio with Fish results, but we opted not to get the micro array. The results came back all clear. DD did not have any of the syndromes that the amnio tests for (which is 98% of known genetic syndromes). We knew that there wqs still a slight chance that DD could have a genetic syndrome, but we figured we would deal with it when she got here.

    While she did have some issues at birth, none of them were related to her soft markers. Rather. they were a consequence of her very large size at birth. Hang in there. 

    Thanks so much for the words of encouragement! Your post made me feel a lot better! :) 

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  • When I had a scan at 12 weeks the NF was over 6 and there was no nasal bone present shown. When we had a scan at 17 weeks before the amnio, she looked "perfect" according to the dr. The only thing off was her femurs measured 1 day behind, which is nothing. DD does have Ds and was born with 3 heart defects and lung issues. None of these things were ever seen on any scans, even when we had the ones specifically for her heart.

    The only way to know for sure is to have the amnio or to get 100% accurate results, wait until she is born. Life with my DD has been wonderful, just like with my 2 typical boys. Good luck and I hope your DD is born healthy with or without Ds.

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  • imagesoontobeahigh:

    When I had a scan at 12 weeks the NF was over 6 and there was no nasal bone present shown. When we had a scan at 17 weeks before the amnio, she looked "perfect" according to the dr. The only thing off was her femurs measured 1 day behind, which is nothing. DD does have Ds and was born with 3 heart defects and lung issues. None of these things were ever seen on any scans, even when we had the ones specifically for her heart.

    The only way to know for sure is to have the amnio or to get 100% accurate results, wait until she is born. Life with my DD has been wonderful, just like with my 2 typical boys. Good luck and I hope your DD is born healthy with or without Ds.

    Thanks for your reply! I really appreciate it! Thanks for the optimism as well! The biggest fear of mine is that I won't be a good parent to a special needs child, I have no experience with that. It's good to hear that life has been wonderful with all of your children the same. That gives me a little confidence if our little one is born with DS. 

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