We had our big u/s on Friday, March 13th. The doctor found the presence of what he called Chloroid Plexus Cysts (or CPC's) in her brain. I was told that everything else was perfectly fine and normal but these COULD be indicative of a chromosonal disorder like trisonomy 18. They scheduled a level 2 u/s for a few days later on April 1st.
During this visit, the tech also saw the 2 CPC's and he also spotted an "intercardiac echogenic focus" or a little white spot on the heart that could be nothing or COULD indicate Down Syndrome. They offered us genetic counseling the same day, and were basically told that nothing in our family histories causes alarm, but both of these disorders are not genetically related and they said they could just be isolated events.
I'm really trying to be positive and think that SURELY if there was a problem there would be other markers. I know with both trisonomy and DS there are deformaties they would be able to spot and the growth would not be normal. Has anyone else had either of these "soft markers" with any of their pregnancies? I don't really feel like having an amnio done because termination at this point is completely out of the question and just having these 2 markers isn't enough to make me want to risk 1:300 chance of miscarriage.
Any Advice???
Re: Anyone else had CPC's on u/s?
I agree with PP -- also, choroid plexus cysts are VERY normal and i know a number of friends who had them on ultrasound and then had perfectly healthy babies. trisomy 18 is EXCEEDINGLY rare and i believe there would be other signs. trisomy 21, or down's syndrome, does have an increased frequency of heart defects -- usually things that can be repaired. if getting an amnio wouldn't change your plans, i wouldn't. further ultrasounds and blood work should help you figure this out. but the choroid plexus cyst and "spot" in the heart could really turn out to be absolutely nothing. ultrasound is a great test but certainly not perfect. i hope everything turns out well -- hang in there!
ETA: what about your quad screen/did you get an NT scan? any bloodwork showing an increased risk of these disorders?
I'm sorry you're having to worry about all this, and hope that you have good news with your next u/s. I have heard of women showing soft markers for Trisomy 18 or Down's at their anatomy scan, and not showing any markers at the follow-up.. let's hope you have the same results.??
The O'Baby Blog
I had this scare and was sent for an?advanced?ultrasound at 19 weeks from my 16 weeks ultrasound. I was told it could be a?sign?of downs, It caused me?unnecessary?panic and fear.
We got their and found out I was there for blood work not the cysts! which turned out to be a total mix up and when they looked for the cysts there wasnt anything of note and they had gotten smaller and were almost gone by 19 weeks. I go back next week for another ultrasound to make sure all is well. But i?understand?how your feeling what your going through. I added links to some posts that might help. Stay positive.?
How far along are you?
will you be having another ultra sound??
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?https://community.thebump.com/cs/ks/forums/thread/12314418.aspx
https://community.thenestbaby.com/cs/ks/forums/thread/12176009.aspx
https://community.thenestbaby.com/cs/ks/forums/thread/12345355.aspx
Thank you guys sooooo much for the replies. Just knowing there are other people who have had the same thing pop up really helps ease my conscience! I know it's silly, but I always feel like if anything can go wrong, it will go wrong with me. Statistics hate me haha!
And Julia, I had the Expanded AFP test done on March 13th, but the doctor wanted to go ahead and do my level 2 scan before we got the results back. I should get those results sometime this week, and I have my normal checkup on Friday (so I will probably get the results then showing my risks of disorders). This is my first pregnancy, and I'm basically completely alone (my friends and family live 1600 miles away) so naturally I'm freaking out about every little thing lol.
Silly question, but what's the quad screen and NT scan?
I didn't have them, but a friend of mine did.. her daughter had CPC's, and a slight heart defect. They caught both at the 18 week U/S, and by 30 weeks they knew for sure the baby had a heart defect. Her daughter has 1p36 deletion syndrome, but it wasn't diagnosed until she was about 3 months old.
It's probably nothing, but sometimes it is something... hopefully you find out everything early enough to get some information.
We had one CPC in our girl's brain when we went for our u/s on March 26. These occur in about 1% of pregnancies and 90% clear up by the 28th week. While we were certainly nervous, everyone told us not to worry because we also had no other signs of deformities--her heart was strong, she opened her hands, etc. When I saw my OB today she said nonchalantly, "don't worry, they're fairly common" so I'm going to do just that--not worry.
When you think about it, 1% doesn't sound like much but when we're talking about genetic scans in the .0001% and amnio miscarriage probabilities in the .003% range, 1% is a pretty big number. The worst thing you can do for your pup is to unecessarily worry. I thought about it for a good day or two after the u/s but then I moved on--you will too.
Thanks for the info Kmills, I'll check into those. I'm 21 weeks today (based on my due date of 8-17). They didn't mention another ultrasound anytime soon, but would naturally assume they would do one at some point to follow up on the CPC's.
The good news is, with the level 2 scan they did the tech gave us a PERFECT pic of her PERFECT profile!
oh, you poor thing! not a silly question -- these tests all have about 12 names! Quad screen is the blood test that is probably the same thing as your expanded AFP test (done around 16 weeks) that looks for all of the trisomies. NT scan (nuchal translucency) is a combo of an ultrasound and bloodwork around 12 weeks, again to evaluate for various genetic problems. NT scans are optional -- recommended if you've had a previous miscarriage or a family history of genetic problems. everyone has a quad screen, and one of the things it tests for is AFP, so i'm assuming it's the same.
i will be thinking of you friday! be sure to let us know how things turn out!
haha thanks for clearing that up Julia! Yes, the AFP was the blood test so we will be hoping and praying for the odds to be in my favor on Friday (thank's for keeping me in your thoughts!)
I don't believe we had an NT scan done, I wasn't able to get in to see my doctor until I was around 14 weeks, so it might have been too late.
?Aw Awesome pic!?Like i said ?just stay positive Im sure you will have another just to make sure and from all I read and experienced CPC's tend to go away. It sucks feeling like its out of your hands but i believe positivity helps. And of course more pics of your little one help too!!
I had EXACTLY the same two markers as you!!!! It really sucked that it worried us, we ended up doing the amnio and learned last week that everything is just fine. From what I gather those are both very common and shouldn't really cause this much reason to worry.
I tend to be a worrier and I knew it would drive me crazy not doing the amnio. My Dr. said that chances of miscarriage don't really go up whether or not you have the amnio. If it won't drive you crazy worrying don't bother with the amnio.
My baby girl has the same 2 soft markers but everything else looked perfectly fine. All organs were functioning properly and measured on target. I had the early screening tests done and i was very low risk for both. My dr assured me that these markers increase my risk slightly but i am still considered low risk. The markers have nothing to do with function of the brain/heart and most likely will fix itself before birth or soon afterwards.
I tend to worry a lot but i found it helpful to read posts like this. The babycenter.com chat room has lots of people with the same problem. I tend to reread lots of posts just to reassure myself when i am feeling a little down. HUGS!