Soft marker for down syndrome

mbw410

Just had my 20 week ultrasound and they found one soft marker for down syndrome. It is a bright spot that was found on the heart. I did not have the NT scan  done and I am 37 yr old. Needless to say we are worried. I know I can have an amino done but concerned about the risks. I will talk to my OB about this at my next appointment, but does anyone have a similar experience? Trying not to flip out too much. 

Anne22202

Try not to worry!  My perfectly perfect daughter had this same marker.  I did have an amino because we had a different marker for Trisomy 18 too.  If you find yourself really worrying about it, I say just do the amino...the relief my good results brought me was such an amazing thing.  And at my hospital, the risks were minimal.   Good luck!  It is a very controversial marker, many docs do not believe it really increases risk.   

pixe123

I had that soft marker as well. But everything is fine, and really not that uncommon.  I did have an amnio done, and felt very confident in the hospital where had it done.  Good luck to you and your little one, and try not to stress (silly I know). 

Buttercup011

I had to have a fetal echo done (not because of the spot but the meausrements).  The specialist told me the spot can be a marker for downs but "it is not a very good one."  Turns out, everything was fine!

leffe1

Please try not to worry too much. I had an amnio based off my bloodwork having a high risk at my NT scan. I would wait to see what your OB says and go from there. My OB has been doing amnios for 25 years. It was a tough decision but I knew I couldn't stay sane the rest of my pg not knowing. The amnio itself wasn't pleasant but it was over so quick. It was a HUGE relief to find out 2 weeks later that everything was fine. Good luck with whatever you decide.

jessandandy09

sorry you are in this position, I know it is stressfull.  My perinatologist found 2 soft markers for down syndrom on our daughters level 2 ultrasound (pyelectasis and mid-phalanx hypoplasia of the fifth digit).  We opted not to have the amnio (I personally don't like invasive testing).  Our daughter was fine.  NO Down syndrome.  The markers are only a likelihood of an increase in percentage that your child MIGHT have a chromosonal issue. In fact I have read that most doctors don't hold much stock in the soft markers and would not point them out to their patients if there wasn't such a risk of malpractice lawsuits.  Try to take a deep breath, keep bonding with you baby (this is one of the worse things, many women stop bonding with their child for fear of a birth defect) and remember that what ever happens you will love your child and they will be your little miracle.  good luck with your decision.

stever

I hear those soft markers show up all the time and almost always end up being nothing. Try not to worry.

Adi

I think one of the reasons they call those soft markers is because they can mean something, or nothing at all. If that was the only marker, then you are probably fine. Especially if the baby had a nasal bone. (my understanding is that for Downs, there is no nasal bone)

mbw410

Thanks for the responses. They are reassuring which is what I could use right now. Thanks!

ashlin242000

Emma also had that marker for DS but she is a happy healthy 4 month old now.  Try not to worry.

footnotegirl

Echogenic intercardiac focii. 

They found one on the ultrasound for my daughter as well. It is a VERY soft marker, representing possibly a doubling of your chances of having chromosomal abnormalities. Be aware that the likelihood of these is already low, as in my case where 'doubling' my chances (at age 40) meant we went up to having a 1.4% chance. Even without an NT scan there are other factors they can look at non invasively, nose bone length, development of leg bones, etc. etc. Talk to your OB and I am sure that they will reassure you and give you numbers on what your chances are that should be very good.

By the time it was seen on the ultrasound, we were already in week 28, but my husband and I decided to get an amnio done  anyway, just so that we could be prepared in case there were issues. As it turned out, everything was normal, no chromosomal issues and in fact, by the time I had my last ultrasound the 'star' was gone from her heart.