Soft markers for down syndrome

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Soft markers for down syndrome

Postby victoria_1024 » Tue Oct 05, 2010 7:22 pm

I had my anatomy scan last week. It was a level 2 u/s at the perinatal clinic due to my husband's genetic heart condition. The doctor seemed very optimistic, said several times how baby is very normal looking and healthy and the heart looks great. I asked the doctor if everything else looked ok and he told me that they found a couple soft markers for down syndrome. Apparently a bright spot on the brain and the kidneys were on the higher side of normal. He said lots of babies without down syndrome also have these things, but it's more common in babies with down syndrome. He said it brings my risk of the baby having down syndrome to 1/600, which is still less than a 1% chance the baby has it so he wasn't very concerned.

Even though he said he wasn't concerned, I just keep thinking about it. With my son, there wasn't a single thing they found wrong so I left feeling very relieved. I keep telling myself this was a level 2 u/s so if there was anything at all concerning, they would have wanted to do more testing or whatever but obviously he doesn't seem to think it's a big deal so it's probably ok right? He didn't suggest an amnio or even following up on a future u/s (although we are doing another one for the heart at 33 weeks). I guess I would worry less if it was one soft marker for down syndrome but the fact that they found two has me a little concerned. Am I getting myself worked up over nothing?
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Postby momtosix » Wed Oct 06, 2010 6:28 am

That would have me worried too.There is always something i find to worry about.Try to relax{easier said than done] more likely it is nothing.If it is sill troubling you in a few weeks i would force them to run more tests for peace of mind.Good Luck.
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Postby bec_83 » Thu Oct 07, 2010 5:23 pm

sorry to hear that your going through this.I think everyone would be abit worried.I got my nuchal tests results back and i got a 1-800 chance and i was abit worried but the doc said thats very low risk but the trisomy 18 and 15 or whatever it is was in the 14,000 so i thought why do i have such a big difference with the downs. I wish i knew what my results were with my first 2 babies
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Postby klbrown79 » Fri Nov 12, 2010 10:42 am

1/800 is great! try not to worry, I was 1/200 for downs and had an amnio two days ago. I am just waiting for the results. I know it can be stressful. Try to be positive.
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Postby ambien » Wed Dec 08, 2010 10:21 am

Hi Victoria, how was your amnio? I had a 1 in 50 chance of DS twins too but I didn't want to go for the amnio as the NT scans were fine and it was only the papp-a value in the blood test that was screwy. However I just did a detailed scan and one of the twins was found to have a right aortic arch and single umbillical artery. So now the doc thinks I should really do an amnio to rule out chromosomal problems. I am undecided as the amnio doesn't find out if the heart problem might be something worse.

I have to make a decision asap and am very depressed and uncertain as to what I should do. If it's positive and I decide to abort that twin, I might just end up losing both :(
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Postby victoria_1024 » Sat Dec 11, 2010 8:08 pm

ambien wrote:Hi Victoria, how was your amnio? I had a 1 in 50 chance of DS twins too but I didn't want to go for the amnio as the NT scans were fine and it was only the papp-a value in the blood test that was screwy. However I just did a detailed scan and one of the twins was found to have a right aortic arch and single umbillical artery. So now the doc thinks I should really do an amnio to rule out chromosomal problems. I am undecided as the amnio doesn't find out if the heart problem might be something worse.

I have to make a decision asap and am very depressed and uncertain as to what I should do. If it's positive and I decide to abort that twin, I might just end up losing both :(


Sorry to hear you are dealing with this right now! :( What have you decided about the amnio? I think for me if there was a heart issue that could be chromosomal, I would be tempted to do the amnio just to see what we were dealing with for sure. That way when baby came, the doctors would know what would need to be done. But it's such an individual decision!

I didn't have an amnio. The peri and my doctor both didn't think there was any reason to do one because the risk is so low. I have another u/s coming up in about a month (because of my DH's heart condition, they want to check the heart one more time) so hopefully baby still looks healthy! I've been super nervous about it.
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Postby Shannon88 » Tue Jun 21, 2011 10:57 am

Hi girls. My quad screen came back at 16 weeks 1 in 9 for DS. We declined the amnio and several strong efforts to get us to terminate. Savannah also had the kidney dialation and a few other markers. While we didn't have a happy ending with our situation, she did not have Down Syndrome at all and in fact, any of the other supposed "markers" were completely resolved by 37 weeks. I don't have any faith in any type of screening tests and I have to tell you that taking that test, learning the supposed results, and having to sit through genetic counseling and everything else absolutely ruined my pregnancy. If the end was going to happen regardless, I would have much rather denied all those stupid tests that have such a high probability of being wrong and spent each and every day loving the baby that was growing inside of me and being thankful for each moment we shared instead of worrying about what people would think about her and how people would judge her. I will NEVER make that mistake again.
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