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
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
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!
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