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Soft Markers found during anatomy scan?

post #1 of 10
Thread Starter 
Hi everyone. I had my anatomy scan today and I'm 19 weeks along. During the scan they found two soft markers. One is a choroid plexus cyst, which is a small pocket of fluid in the brain. This is fairly common, but can be a soft marker for Trisomy18. From what I could find, CPC is found in 30% of babies with Trisomy18. The OB called and from what she said, she's not worried about Trisomy18 because usually there are other major abnormalities, such as shortening of limbs, bowel abnormalities, etc., none of which were present. The pocket of fluid does not cause brain damage and usually resolves on it's own.

The other soft marker was an echogenic intracardiac focus, which is a bright spot on the heart. It also resolves itself and does not damage the heart development or function in any way. That is found in 20% of babies with Downs Syndrome, but also in 5% of healthy babies.

Although there are two soft markers and they are for two different genetic abnormalities, the OB thinks I'm at higher risk for having a baby with Downs Syndrome. (Again, not really the Trisomy18). That kind of doesn't make much sense to me as the CPC isn't even a marker for Downs. I'm already irritated with them, as I refused the quad screen because I did not want to worry about something a) I could not get definitive answers about until the baby was born as I would not do an amnio, regardless and b) knowing would not change the outcome or my birth plan. I was actually asked if I wanted to be told about any soft markers that might come up and said "No," but they told me anyway. :/. They're "really sorry about that..."

I'm also seeing a home birth midwife. The only reason I'm seeing the OBs is because I wanted to get the anatomy scan to rule out any issues that could cause complications during an out of hospital birth, but my midwife could not order one. My midwife is amazing. From what she told me, CPC is only very loosely tied to Trisomy18 by a few studies and that, as everything else looks perfect, I shouldn't worry about that. The EIF is seen in lots of babies and that out of all the babies that have it, only .002% actually end up with Downs. She also said she would be comfortable attending my birth regardless. (The head of obstetrics at my OB clinic even said that nothing about these markers or what they could indicate would make the birth high risk for baby or me, so an out of hospital birth is still the plan, either way.)

Anyway, if you made it through all that, thanks for reading it! I'm just wondering if any other moms have experience in this area. I'm trying really hard not to freak out and have to make a decision about whether I'd like a level 2 ultrasound. That would not provide definitive answers either, but would look for more soft markers to gauge my baby's risk more accurately.
Edited by PhilsBabyMama - 12/17/12 at 9:45pm
post #2 of 10

We had two markers on our 20 week scan with our last baby: the choroid plexus cyst (maybe even bilateral) and thickened nuchal fold.

We too were told our risk was increased for DS (1/100) based on finding the two things together. The cysts resolved (needed to go back another time, for chest views that babe didn't cooperate with on the first scan. They saw then that they were gone...but wouldn't have scanned again JUST to check.) The nuchal fold thing bothered me because those measurements aren't even accurate beyond about 16 weeks. So we worried ourselves sick, decided against amnio because of the risk of miscarriage and we would not terminate the pregnancy based on the findings, and got a fetal echocardiogram to check for cardiac abnormalities that would not be compatable with our planned homebirth. The fetal echo was fine, so we went ahead with our homebirth, still knowing there was a chance of DS. I ended up giving birth to a perfectly healthy 10 lb 5 oz boy (thus the increased nuchal fold...he was BIG).

 

I am sorry you are going through this as I know the stress it creates. We have our scan in a couple weeks and I am considering telling them to keep any 'soft markers' to themselves. I only want to know the biggies (diaphragmatic  hernia, gastroschesis, placenta location, etc).

post #3 of 10
Thread Starter 
Thank you so much for sharing! I'm starting to feel a little less hysterical since it seems like a soft marker or two is not all that out of the ordinary for healthy babies. I really wish they just hadn't told me.
post #4 of 10

First, I have only experience with heart defects, nothing else, and there were no soft markers, at least none I was told about.  I am sorry you are experiencing this and I hope you can find some peace.  I know what it is to worry about your baby and there is nothing you can do about it.  But think about it this way.  Since you know it would not change your outcome but only might change your birth plan, maybe disregarding the results at the moment is the best idea?  I know it's hard to put it out of your mind, but it seems like the risk is pretty low.  I would go with your MW if you trust her.  Best of luck and keep us up to date!

post #5 of 10
Thread Starter 
Thank you. I will. I'm trying to keep it all in perspective and not stress out about it. I really want to enjoy this pregnancy and not spend the whole time worried. At this point, I'm leaning towards no more testing and just going with the odds that everything is fine. Easier said than done, but I'm hoping that once I've had a bit more time to digest this, it will get easier. I've found tons of very positive stories online and that has been a huge help, too.
post #6 of 10
hug.gif I'm sorry they told you about it against your wishes, I'm glad to hear they don't make anything high risk. I too am not one that wants a bunch of tests that end up mostly creating worry, I don't need to be stressed while pregnant! Especially when you know you aren't going to terminate regardless. Anyway, glad you are finding positive stories!
post #7 of 10

I'm so sorry to hear this.  We go today for our scan (which I was very hesitant about anyway, but decided to do one) - and this is exactly my worry.  This is why I really sort of hate ultrasound technology.  It tells you enough to make you worried . . . but then you need much more invasive testing to really find out anything conclusive . . . which still might not be accurate in the end!  Sounds like you have made the best decision, although I know how my brain works and how difficult it would be to "turn off" the worry about all this.  Positive thoughts to you.

post #8 of 10

Hello there! Even though I am not expecting anymore, I had my baby in April this year, I felt compelled to respond to your question. When I was about 22 weeks pregnant with my baby boy I had an anatomy scan and they saw echogenic focus on his heart. They did not tell me right away, but had me to comeback three more times before they finally told me. Yes, the doctor told me it was a soft marker for genetic abnormality. I was so frightened! I was crying and could not feel ok about it. My midwife told me that in her practice she had never had a Down Syndrome baby from women with just one or two "soft markers". It was reassuring for me to hear. However, I did decide to go to the second level ultrasound, just to make sure there were not any more markers and "hard" ones as well. I was so nervous, I almost got sick. My baby measured just fine, no femur bone shortness and no neck shortness, just this one bright spot on his left ventricle. His heart was functioning beautifully. It was good for me to see and hear. As a part of my ultrasound I had to consult with genetic counselor and I hated it. If you can avoid it, do it! They give you these frightening statistics that sometimes does not even apply to you and your health and your lifestyle. My husband actually got mad at her for freaking me out. The amnio was out the question for me. I was 27 weeks at hat point and did not want to risk miscarriage. Sorry it is long, my baby boy was born just fine!!!! Healthy 8lb.11oz. beautiful baby. I was so relieved!

 I was nervous for the rest of the pregnancy, yes, but I researched many studies and there were not any conclusive evidence about these "soft markers". What really helped me was all these comments of mothers who were in the similar situation. It was reassuring for me to hear that their babies were born healthy. When I saw your post, I wanted to reply and be supportive of you. I know you must be worried, but try to look forward to your baby and know that everything will be all right. 

The bright spot on his heart never disappeared as many do,  towards the last weeks of pregnancy. He had an ultrasound after his birth to check it out, and it was still there, but very faint. The doctors said there is nothing to it. He is fine and I do not worry about it anymore. I wish you calm the rest of the pregnancy and a beautiful homebirth, just like you want. 

post #9 of 10
Thread Starter 
Thank you all so much. Your stories and calming words really mean a lot to me and are very reassuring. I'm so glad this group is here. joy.gif
post #10 of 10

Philsbabymama - I didn't even see your post until you wrote on mine! Looks like we are in somewhat a similar position. I didn't even want to do any u/s because I also did not want to worry about something that I couldn't do anything about until baby was born. I am really hoping that they tell me tomorrow that it is nothing and I hope for the best for you and your baby too!  I am finding a lot of stories online that say the doctors told them these dooms day things and when they went to a specialist it was nothing.

 

Edited to add: I just wanted to add that I was also told at 7 weeks that I had a blood incompatibility with this baby and the baby may need blood transfusions before it was born, and may have complications like intrauterine growth restriction. It turned out that I just had a little bit of Rhogam shot left in my blood stream from having a m/c a few months before.

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