Soft Marker for Downs Syndrome

mandy6596 · January 2015

Hi all,
Went for my anatomy scan today and all went well up until I was told there was a white spot on the heart which they consider a soft marker for Down's syndrome. Has anyone else had this happen? I am a 28 yr old healthy female with no history of Down's syndrome in the family. I also had the suquential screening done at week 11 that tested negative for the 3 types of chromosomal conditions. MD said that this is 90% accurate and that I could consider more testing (another ultrasound and blood testing at a maternal fetal specialist) which has a high accuracy of 99%. Any insight would be of much help, thanks all!!

leenziepops · January 2015

Hello if you search this board you will find some positive stories. I've heard now a few stories on this board of the white marker disappearing especially when the genetic testing showed no positive results. Sorry you have this to worry about.

alabama&clarence · January 2015

I had the same thing at my last ultrasound (at 17 weeks). The doc said that this is not that uncommon and that 5% of all healthy babies have them. I have since had an amnio and results are normal. Hope this is encouraging!

akmhbm924 · January 2015

leenziepops said:
Hello if you search this board you will find some positive stories. I've heard now a few stories on this board of the white marker disappearing especially when the genetic testing showed no positive results. Sorry you have this to worry about.

@mandy6596‌
My story is kind of the opposite. My quad screen results came back high with a 1 in 9 chance that my baby had Trisomy 18. I had the level II ultrasound done a week and a half ago, and they saw zero "soft markers". I opted to go ahead and have the amnio done for my own peace of mind, and the FISH results cane back negative. Still waiting for the final results, but I'm not too concerned anymore. If you feel that you need to know 100% either way, the amniocentesis will tell you. Good luck with whatever you decide!

annatta79 · January 2015

My son had a couple of the white spots on his heart. Our NT scan had us at low risk. He is just fine.

Trampslikeus · January 2015

In most cases, it turns out not to be Downs, which is why its called a "soft" marker. Hopefully you will be in the majority.

That being said, I feel like I need to clarify for the 9 zillionth time... Downs has NOTHING to do with your family history. ZIP ZILCH NADA. And the vast majority of kiddos with Downs are born to "low risk" mothers under 35.. It is a completely random mutation.

Don't get me wrong, I'm not trying to tell you that you should be worried - just clearing up some very popular misinformation.

megtyrrell · January 2015

My baby also has a bright spot on her heart. My harmony test results were normal so my doctor isn't worried about it. This spot is called an echogenic focus. A friend said her son had one too but it ended up disappearing before birth. You could opt for screening like the harmony test, as it's non-invasive and there's no risk to your baby. That's one of the tests that's 99% accurate.

devyns2nd · January 2015

My husband said his sons test were positive for down Syndrom. His ultra sound had markers too. The ob wanted them to have an abortion because of it. He was born with no complications and no down Syndrom Like the Dr expected. He's an average 14 year old and my husband worried for nothing. So try not to worry. The tests aren't 100%

DaveandKim08 · January 2015

I feel your pain. We went in for our A/S a couple days ago and they saw that our baby girl had club feet on both feet. We then were transferred over to the 'high-risk' center and had a very thorough ultra sound for 2 hours to see if there were other markers of downs. They also found the 'soft marker' on the heart. We also had the panorama test done at 12 weeks and were cleared for all three trisomies. We thought that we were in the clear but I guess that's not 100%. He did say we could get the amnio test which is a bit more aggressive but he did not recommend it highly in our case b/c our panorama was normal. Club feet can be an indication of downs but majority of the time it is an isolated issue. They want to monitor her now every 3-4 weeks. I am very emotional about this, it is our first baby and I am 34 years old. The Doctor did say that the marker on the heart is not uncommon, in fact his son had one. I know how hard it is to relax. My mantra is that regardless I have no control, I just keep showing up for my appts and let them do their jobs. I am not afraid to ask questions to clear up anything that seems confusing. It just seems that they have to be extra careful and check EVERYTHING out. You are not alone in this.

nye373 · January 2015

My first had a few holes in her heart which is a soft marker. The doc told us that if the blood test that screens for the probability of downs came back normal we shouldn't be too concerned. To me the chances of downs were not worth the small risk that the amnio carries. She turned out fine and the holes grew closed. I was so worried at the time but it was all for nothing. It's hard not to worry especially if you've already googled it. I would try to relax. Your chances of the baby having downs are still so slim.

iviistyyyy · January 2015

I just went through this. Some blood work came back iffy and saw the soft marker on the heart. I was beyond scared. fortunately my panorama came back clear. I'm glad genetics has come so far. I hope you have a similar experience, we have enough to worry about as it is.

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