Soft markers

Babybloom16 · December 2015

Today we went for our 20 week ultra sound. They found two soft markers. Bright spot on his heart. And cysts on his brain. I've read that the bright spot could be calcium and the cysts are nothing to be worried about. But we are worried. My biggest fear was going to the anatomy ultra sound and finding something wrong. These are two small markers for Down's syndrome. I'm so stressed, sad and scared. I just want everything to be okay. A lady that did my 3-d ultra sound to determine the sex early said that her doctors office wouldn't have even scared me with those two things. That they are common. I'm 29. The baby is healthy though and the doc said she doesn't think any things wrong. Have any of you had small markers that ended up being nothing or actually ended up being DS? Thanks

kynbar5 · December 2015

I'm sorry this is happening to you and I hope it all works out. I've heard of this happening and further testing or u/s showing it's not DS. With this, it's just something you have to wait and find out. From what I've heard it is pretty common though. I would like to add that even if it was DS you can still have a healthy happy child and to be very honest there could be worse things. Thoughts and prayers to you and I'd try not to stress over it too much.

ecwk · December 2015

My baby has a bright spot on the heart. Actually there are tons of threads on this subject, if you search you'll find them and they will comfort you. I too was told not to worry but that's easier said than done, right?? I had a level two ultrasound and the spot was still there. I did the Harmony Test and we got excellent results. Less than 1/10,000 chance for chromosomal issues. I wish you the best. I honestly don't think it's as concerning as you probably (understandably) think it is right now. Best of luck!

peregrinefalconx · December 2015

My friend's baby had cysts on the brain. Very common. She worried the whole time and he's fine.

mcklough · December 2015

at my anatomy scan they found a bright spot on her heart, but they told me it's common that they go away so I'm having a follow up ultrasound at 32 weeks to make sure. I'm not worrying because they told me not to but it is always something in the back of my mind.

We never did any genetic testing, but they said that there are usually a lot of other signs that they see and they worry more when there are a bunch of the signs. Not sure if having two vs just the 1 makes it a much larger concern but if the Drs are concerned they don't brush it under the rug- they have to be up front with you.

I'll be thinking of you!

BZab3 · December 2015

My daughter had the bright spot on her heart at her 20 week US. We decided to not have further testing done. Turns out it was nothing. She's a year old now

katy0990 · December 2015

I am so sorry you're going through this. I had an ultrasound at 25 weeks where they also discovered a few soft markers. As a result, I had the verifi test done and the results came back that baby has a 99% chance of not having downs.

sorarose · December 2015

Calcium deposits are VERY common in the heart. My doctor's office won't even mention it because it's just that common, and I happened to see DS had one because I looked over the shoulder at the computer as the tech was recording.

Are the cysts choroid plexus cysts? Also fairly common and my DS had those too. I freaked out just like you are. However, it was the one time Dr. Google actually made me feel better, and they eventually resolved themselves.

Based on all the research I did, I also want you to know that the markers are for two separate things. Calcium deposits are soft markers for Trisomies 13 and 21 while the cysts are for Trisomy 18. One marker has nothing to do with the other, so don't look at them in tandem.

Did you have an NT scan or Harmony test? Again, while scary, it sounds like nothing to worry about.

groovylocks · December 2015

Yup! I had two. My Olive also had the "heart spots" (Echogenic intracardiac focus) and later on it was discovered during a growth ultrasound that she was always sticking her tongue out (Like REALLY doing it. It looked lke i was giving birth to Gene Simmons)

Further scans determined the presence of macroglossia (enlarged tongue) which is also a soft marker for Downs.

She was born on December 10th and does not have DS or any other chromosomal abnormalities from what we can tell.

Here is how soft markers like Echogenic focii work.

Let's say you have 20 kids. 10 with DS and 10 without. Of the 10 without DS, echogenic focii were seen, say, 5% of the time. Of the ten with DS, it was seen 25% of the time. So the presence of DS increases the likelihood of seeing this anomaly in a few cases. Being asian (which my daughter is) can ALSO increase the presence of echogenic focii. In fact, that number is somewhere around 30% of all pregnancies where one or more parents are asian. Which might explain why our girl had it. Or it might be a coincidence.

Macroglossia, in our case, is definitely genetic as I have it. Not severely. I have never had speech isues or had major protrusion (neither does she - it just sticks out sometimes and is adorable) but my tongue doesn't fit in behind my bottom teeth like it's apparently supposed to. It sits on top of them and oozes out into my jaw. It gets bitten a lot, is the biggest side effect of my macroglossia and i have no reason to assume Olive's tongue will cause her any more issues than that.

If you chose not to have the 14 week genetic screening (we did. We were keeping her regardless) then the signs you want to really keep an eye on are growth ratios. So if she's growing big enough but her limbs are lagging, this is a hard marker. The lack of a nasal bone is another hard marker. You can request additional growth scans as she gets older (gestationally) to ensure that she is growing properly but to me it sounds like there is likely no need for that since no hard markers visible at 20 weeks were identified.

Source: I am not a doctor but am a technical and medical writer so I have been able to read a number of medical papers on echogenic focii. If you are able to do this (It's dry reading and requires a bit of googling) it is very reassuring. There are medical papers on this and other soft-marker subjects available through google searches.

Lusitano8 · December 2015

I has my A/S at 18 weeks and they also saw an EIF on the heart. I'm going back at 20 weeks for a level two u/s follow up. I know it's so scary thinking that something could be wrong with your baby but it seams like these soft markers are fairly common. This happend to my friend with both of her kids and they are fine. It seams to show up a lot and end up being nothing.

Try to stay positive and ask for further tests. Fingers crossed for you!

thaisac1 · December 2015

My baby had a couple of soft markers. At my 20 week US they diagnosed echogenic bowel. At my level 2 US at 23 weeks, the echogenic bowel was gone, but there was very mild pyelectasis.
We have done the Panorama test which came back negative for aneuploidies. The genetic counselor explained that the soft markers are most often not associated with genetic abnormalities, but it's a good thing to get checked if you'd like to know for sure yes or no.

rklinge0 · December 2015

This may go better in high risk or special needs board. While your age may not seem like a risk factor, it is still possible.
My story is a little different. We had a perfectly normal 20 week scan and when they did the ultrasound during third trimester a soft marker showed up. It had rectified itself before birth but during this time we had short long bones. The last mfm ultrasound the specialist actually told us that he honestly thought nothing was wrong. My l/o was born with d.s. back in June.
My dh and I chose not to be tested due to my age and the fact that one of the soft markers is 96 % idiomatic.
But as I have found out your age does have something to do with chromosome abnormalities its not everything. I was 28 when she was born and there are moms in our support group that are teenagers.
It is totally up to you if you want to get tested to give you peace of mind. I don't know if in my case it was better to have known or not. Good luck in whatever your decision is.

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