Post # 1
Help bees! I just heard from my doctor today (on a Sunday no less) b/c she wanted to tell me the outcome of our anatomy scan from last week right away before I saw the report online. Everything looked good in terms of the baby’s growth, and all of the gross anatomy looked great. BUT — there were two negative (or questionable?) findings. One is a choroid plexus cyst in the baby’s brain, and the other is an echogenic intracardiac focus. Both of these are so-called “soft-markers” for chromosomal abnormalities — one is associated with trisomy 18 and the other with down’s syndrome. The doctor was quick to tell me that both of these issues usually fix themselves, and often there turns out to be no cause for concern. Still, she is probably going to refer me for a follow-up second anatomy ultrasound with a perinatologist. Of course, I can’t help but be extremely worried now that something is wrong with the baby.
As a side note, all of my first trimester blood screens and NT scan were all normal and indicated very low risk. My second trimester blood work should be in by now, so the doctor is going to call me back tomorrow with the rest of the results from those tests.
Has anyone ever dealt with either of these diagnoses? Or has anyone received less than positive news from their anatomy scan? I would really appreciated any wisdom on this subject.
Post # 3
I’m sorry that you didn’t get very good news. Sending wishes your way for some speedy self-correcting on your jellybean’s part!
Post # 4
My sister was given a negative diagnosis while she was preggers. She was told she had a cord adnormality which increased the possiblity her son would have down syndrome. She had an amniocentesis and there was still the possibility. Well, he came out 100% healthy and is all boy. She was actually on several prayer circles throughout her pregnancy. I know not everyone believes in the power of prayer but it’s done incredible things in our family.
Also I know that you can’t always believe Dr. Google, but the 2 diagnosis you were given may be temporary and disappear by third trimester. They indicated that an amniocentesis may be encouraged for further testing.
Keeping you and your little one in my prayers.
Post # 5
The only thing I can tell you is that my cousin was told the same thing when she was pregnant with her first and she spent the next several months preparing herself for possibly having a baby with Down Syndrome. It did not come to fruition as her daughter was born perfectly healthy and now at 12 yrs old, she is smart as a whip with an attitude to match!
Bottom line – keep positive. Soft markers pop up regularly and oftentimes turn into nothing. I think if you had a good NT test, there is a strong likelihood this will correct itself as your doctor said.
Sending lots of positive thoughts your way!
Post # 6
Hi there! My son had two choroid plexus cysts on his brain in our otherwise normal anatomy scan. I had a follow-up ultrasound around 30 weeks, and the cysts were gone.
It’s a scary diagnosis to receive. I know a bit of what you’re going through. Try not to worry too much. The doctors have to be thorough. We were told that because our son had the choroid plexus cysts but no other soft markers for trisomy 18 that it was probably all going to be fine. There is literature out there that explains the cysts. I found this support website helpful: http://choroidplexuscyst.org/
I pray that the markers resolve themselves, just as they have in my son. He’s almost one and perfectly healthy and happy.
Post # 7
I’m sorry you received some worrisome news. The only thing I have to add is that I think it’s a very positive sign that your doctor even offered the information that they will likely correct themselves and disappear. I don’t believe she would have said that if there wasn’t a strong possibility. Part of a doctor’s job is to prepare you for the worst – and they usually don’t offer open-ended hope unless they are almost certain it will come to fruition. Thoughts and prayers going out to you and I hope all is well with your little bean!
Post # 8
I’m not that far along yet so I can’t imagine what you’re going through now. 🙁 Just wanted you to know I’m thinking about you and baby and sending positive thoughts the problem rectify itself. *hugs*
Post # 9
My personal advice would be DoNot read up on either condition until your doctor gets back to ou about the bloodwork, or even til after follow up exams. You are worrying as it is, and reading details could only increase that worry. You don’t need that, dear. Truly. So, deep breahs and foot rubs. I hope there is nothing to worry about and all is fine.
Post # 10
Thank you ladies! It’s really hard not to worry, so thank you so much for all of your reassurance.
@mariavvisa: I’m so glad your son’s cysts didn’t indiacte anything worse, and I’m praying for the same prognosis.
Post # 11
@skibobrown: I am sorry to hear of your news, I can’t imagine how stressed you must be. I will chime in as an NICU nurse. I have seen tons of results like these come up in histories, and in both choroid plexus cysts and echogenic intracardiac focus the babies did not have any genetic issues, in fact, the babies who end up in NICU with these findings often come in for totally unrelated, fairly routine reasons.
We don’t draw genetic labs based on results like those, unless something else about the baby causes concern (usually facial features indicative of a genetic abnormality). Choroid plexus cysts and echogenic intracardiac focus in and of themselves don’t even cause enough concern for extra assessment or post-partum testing in the normal newborn. When we do risk scores on the expected health of an infant, neither of those even warrant an extra point.
All I am trying to do is assure you that when babies have those soft markers, 99% of the time it does not mean there is anything wrong with them, and is of no short or long term effect, other than to freak you out until you finish the testing and follow-up, if you chose to have them.
Post # 12
I have had friends with both of these issues, and both of the babies were completely healthy. I will pray for your LO.
Post # 13
You’re in my thoughts. I hope it all turns out OK.
Post # 14
I’m sorry about this worry,but am so glad that there are helpful bees on here who have been through similar things….thank you for sharing. Hoping the best for you!
Post # 15
I’m not far along yet to help, but it sounds like right now there is nothing you can do. Try to relax, and pray and give your little one time to heal. Hopefully, like the PPs said, those problems can heal themselves.
Lots of hugs and prayers!
Post # 16
@skibobrown: My son had that same issue in the brain area (i saw you wrote the technical name for it which i dont remember 🙂 and he turned out just fine. I worried myself sick, naturally. By the time i went in for my next appointment it had gone away. I will be sending good vibes your way! try and stay positive and take things one thing at a time.