1 in 100.
That's the number of fetuses that manifest a chorid plexus cyst (or "CPC") at the time of their second trimester ulstrasound. It's a cyst in the baby's brain which may in itself sound alarming but apparently it's not the cyst that's a problem in the least, it's what the cyst is a marker for that is worrysome.
Here's how the conversation went, a full one and a half weeks after my anatomy scan - why they didn't call me sooner I will never understand.
OBG: Everything looked fine, although the tech did detect a choroid plexus cyst. Other than that...
Me: Wait, a what?
OBG: A choroid plexus cyst [she wrote it down on the back of one of her business cards. A gesture of good faith. She wrote it down knowing that I would take that card and type each letter directly into google, it was like she was handing me permission, like she wanted me to know she had nothing to hide, like she had given up and all she could hope was that I would trust her].
Me: What's that? [Starting to realize that she's not freely giving up any information and that this is going to be a game of 20 questions for sure]
OBG: It's an isolated incidentanoma....
Me: [losing my patience] what does that mean?
OBG: Just something the tech felt he should point out, it's like the baby's gender, that's an incidentanoma...
Me: [Not satisfied and making no apologies] Why would he feel he needed to point it out, what is the concern? What is it associated with? [I'm a lawyer, I'm surprised it's taking me this long to ask the right questions, I should be doing better than this but man is she drawing it out].
OBG: It can be associated with birth defects...
Me: [My hear trate is really out of control now, I'm trying not to panic, she wasn't even going to get into all this so where's the damn 'but you don't have to worry about it because...']
OBG: People have tried to associate it with Trisomy 18.
There it was. I've read a few studies since this conversation, CPCs are associated with Trisomy 18. Around 50% of babies with trisomy 18 ("t18") manifest CPCs in their second tri ultrasounds. There is a demonstrated correlation. So 1 in 100 fetuses have a CPC and then somewhere around 3% of babies who have a CPC end up having t18, but the vast majority of those have additional risk factors - abnormal maternal serum screens, advanced maternal age, and/or additional anomolies detected via ultrasound to be specific. Which leaves me with no idea of what my risk factor is now.
OBG: Absent other signs, the risk is extremely low that the baby would have this, and you have no other risk factors.
Me: But I skipped the quad marker screen. What if that could have shown an increased risk...[PS, the quad marker screen had to be done between 15 and 20 weeks - my scan was at 19 weeks exactly. I got the results yesterday at 20w4d]
She responded to this only by saying it is now too late to do that test, that no test is 100% accurate, etc. I am well aware that the window closed a mere five days ago - well after the scan. Why didn't she call me sooner?
Even Dr. Google says the risk of having a t18 baby with a so-called "isolated CPC" (no other risk factors) is extremely low - in some studies 100% of babies for whom this was the only marker turned out to be perfectly healthy. My concern is that I'm not working with a full assessment since I didn't have that second trimester blood screen. To some extent it's like we're hiding our heads in the sand and saying, "well I don't see any other risk factors so no problem here." You won't find other risk factors if you don't go looking for them. I did have the first trimester screening though and the result was an amazing 1/100,000 chance for t18. But that screen is only about 80% accurate at picking out abnormalities, and I clearly have no problem falling into the 1% chance type of ranges.
My OBG tried to reassure me that this was not a cause for concern. She speculated that even if this raises my chances from 1/100,000 to 1/70,000 she would still certainly NOT recommend an amnio since the risk of loss from that procedure is 1/200-300. And when I asked her how often this comes up she said she has this conversation "several times a month" and that anecdotally she had never seen an isolated CPC result in a baby with t18.
But she is not a geneticist. And part of what bothers me about all of this is that I don't know how confident anyone is that I don't have any other risk factors. I think I could live with all of this if I knew I could rule out other risk factors but I'm not all that sure that they scrutinized all the things they should have during the anatomy scan in light of this CPC finding. Did they look at the hands carefully? What's the story on the heart - the most common problems with t18 babies are with the heart. And what about the length of the femur, did they measure that? I do remember the tech spending time showing me the baby's upper lip. At the time I wasn't sure why but after some research I realize he was probably looking for cleft lip.
I wish I could trust the doctor's assessment of the scan, but the nurse mentioned she was 'printing out the results' for the doctor after I was checked in. Had she not bothered to look at the pictures? The other trust issue I have with her stems from her assessment of my pathology report from last year's miscarriage - she told me, point blank that it was "normal." It took me five months and four doses of MTX and a lot of heartache to find out the actual result was "inconclusive." That's a pretty big difference. So forgive me if I can't quite stake my baby's life, my husband's life, our marriage, my family's hopes and dreams etc. on her telling me this is isolated and based on my first trimester screen everything should be fine.
On the other hand, my panic over this is once again just a product of knowing too much. The ultrasounds are too sensitive now, I had one scan too many, I have committed the ultimate sin of googling, etc. If I had never gone in, I wouldn't have worried about this. The baby would have continued to grow, on schedule, and would probably come out just fine. In fact I don't know if I would have the quad marker screen even if I still had a chance (although I am frankly appalled that my OBG let that window go by while she sat on my results). I don't think I can take any more of these soft markers and fickle statistics. I don't think, in my heart of hearts, that anything is wrong with my baby. I think everything is fine and that I've had enough tests that if things were not fine, something would have come up. My chances that the baby is normal seem to go up every day based on the statistic that only 50% of t18 babies even make it to birth.
My OBG strongly advised against an amnio. I called this morning to ask whether I should do another u/s to look specifically for t18 markers and her assistant called back with the message that my OBG "Doesn't think that would be a good idea." What the F does that mean? She has recommended that we do nothing. She said to me "at some point we just have to choose what to worry about." Hinting, I think, that this is not one of the ones to worry about. She also said "I can't tell you he doesn't have it..." while her face read "but he doesn't."
DH has been tremendously sympathetic and supportive but ultimately thinks I should just forget the whole thing. Forget it happened. I think I need to. I don't really think I have a choice. But how can I? How can I now go purchase the nursery set and pick up my friend's hand-me-down exersaucer and have this stuff laying around in my home and go to my baby shower and dream about the baby with my parents and pick a name out and go on like this didn't happen? Like I'm not seriously concerned? Maybe the bottom line is that before the scan there was a small risk that the baby would have a chromosomal defect, and that after the scan, there still is. There is always a risk. Maybe I should get an amnio, but I really don't think that's logical.
At this point I feel like I am going through the motions. Like I am forcing myself to go look for childbirth classes, and like I will act like nothing is wrong, but that the innocents is gone. Like this is the final nail in the coffin of not being able to enjoy my pregnancy. And I hate it. I didn't expect it to be like this.
15 years ago

14 comments:
wow, that is scary stuff. i hope the doctor is right and the baby will be fine and i'm sorry they didn't tell you asap, it seems like pretty important information to me.
Man, that is really awful on the part of you OB. She is very frustrating. My doc gave me the results right away after the scan.
I can't imagine how you feel right now that is so scary but I think I've known other people who have had that cyst and they also worried a lot but their babies are just fine. Still- I can understand the fear and it would have been nice to have been told sooner so you had some options- even if you had chosen not to take those options.
*hugs* so sorry for the stress you have to deal with now.
Your doctor deserves a slap. (Well, she has for a while, but now she REALLY deserves one.) She has a lot of nerve withholding that kind of information for as long as she did. I hope that this turns out to be nothing more than normal, and I'm sad you have to deal with this stress. I also wish you could enjoy your pregnancy.
First, I am so sorry you have to deal with something so scary.
Second, like K pointed out, I have read about several other women whose babies have had this and they worried about Trisomy 18, Down's or other birth defects and their babies all turned out fine.
If you have no other markers, I am sure he will be ok. But at the same time, I am also a worrier and would push for a second u/s IF you think it will make you feel better instead of going through another 20 or more weeks wondering. We are having a growth u/s at 36-37 wks (I am small and did this with my son who was 2 weeks overdue and 8.5 lbs) but really I wanted them to look to make sure all still looked good. I know that is awhile away, but maybe around that time you can sneak in another u/s under that premise?
Or maybe find another OB who will send you for another u/s and understand.... You have been through so much already.
Kelley
AND feel free to ignore this ofcourse but I feel wrong if I don't reiterate that you may want to consider a new OB so issues like this dont happen again. I know you're more than halfway there but I shudder at what kind of shit she may pull on you as time goes on.
I was reading another blog, and they noticed a Choroid Plexus Cyst during the 20 week ultrasound, everything turned out just fine and the baby is near full term now. Here's the link if you want to speak with the blog owner: http://heidbrinkhappenings.blogspot.com/2009/12/choroid-plexus-cyst.html
I'm sorry things have been worrysome for you thus far, I hope the rest of your pregnancy goes smoothly.
So sorry to hear that they found a cyst during your ultrasound. Like you, a choroid plexus cyst was detected at my 20 week scan. I did have the initial screening done, but was still scared as all get out about what in the world this meant for my baby.
My OB was not really concerned with the matter either and just said we would make decisions about what to do once we did another ultrasound. Our very next ultrasound revealed that the cyst was gone, and I will send some positive thoughts your way that the same exact thing happens for you. I know there is no way to avoid the worry, but hopefully hearing about some other experiences with this will help to quiet the anxiety just a little.
I have been horrible about posting lately, but feel free to read my post about the discovery of the cyst and the comments that were shared with me because they helped me tremendously!
Best of luck to you!
I am so sorry you are going through this. We just went through our own terrible story of a poor fetal diagnosis. The world stops when you hear those words. I think seeing a new OB for a second opinion is a great idea, you may also want to meet with a genetic counselor just to hear what they have to say. Thinking of you and praying for your little baby.
C
While I see a lot of people who have u/s that have a CPC and the babies are fine, if YOU are not comfortable, you should find another Dr. who can (and should) explain more and reassure you. And perhaps perform an amnio if that is what you want.
Good luck!
I had that kind of a pregnancy-- long awaited, wanted desperately, but I couldn't enjoy it because there was always some gnawing only 5% or 1% or .3% of pregnancies factor that I fell into. I googled endlessly, worried endlessly, and my daughter did end up with unexpected serious heart defects-- in the low percentages again. She has had surgery now and is fine, but gah!! Can't an infertile girl who has done everything right get a freaking break? I'm sorry you have to suffer like this. Its not fair. I could blow sunshine up your skirt and tell you everything is going to be OK, but you won't believe it. I know because I didn't believe it. I think the only thing anyone can say that helps even a little is that you're not alone and that your fears are valid.
Not to give you another thing to worry about, but the fertility treatments and all the worry do put you at higher risk for PPD. You should know that and be prepared. Do yourself a favor and talk to someone about your plan for handling it before it happens. And talk to someone about what you can do to mitigate the anxiety you're having now. What's good for you is good for your baby, and the most you can really do right now is take good care of yourself.
Love and hugs.
I have had three girlfriends all have little girls with this same thing and all have been fine.
That being said, it IS associated with risks, and ALL of them were followed up with for more testing and diagnosis. It is assanine to expect you to just la-dee-da through the rest of your pregnancy when you know there is potentially something wrong - especially if that potential is microscopic. Why not just have a test (my girlfriends all had follow up ultrasounds at 24 - 26 weeks to see if the cyst had grown or if there were any other markers for other birth defects - none of them had to have amnios to rule out complications) and be able to rest easy?
DEMAND follow up and/or change OBs. You should not have your concerns brushed away like this.
Hi, here from LFCA...just wanted to share my story, it's got a "happy ending," promise.
During my pregnancy with my daughter, the MFM specialist detected choroid plexus cysts (multiple) during an earlier-than-20 weeks u/s (I think it was around 14 or 16 wks, if I recall correctly).
During the 20 week u/s, the tech and doc took a lot of time looking for other markers of T18 (rocker feet, clenched hands, etc.) and none of those were noted. They also took the time to explain to me that many babies show choroid plexus cysts that ultimately resolve before they're born. For the record, my husband and I did decide to go with an amnio but that is a whole other matter entirely and had nothing to do with the cysts.
Anyhoo, our "choroid plexus cyst" baby was delivered healthy at 37w1d. She is now a rambunctious, completely 'normal' developmentally and otherwise, almost-5-year-old.
Please know that not every case of choroid plexus cysts means something bad. And that is definitely my hope for your baby too :) And like Laura says, if you're not comfortable with the info you've received, get another opinion and/or see if an amnio can be performed. Hang in there mama :)
Came over from LFCA. I had two baby boys born normally who were diagnosed with CPCs during the 20 week ultrasound. With the first baby, when the doctor told me, I freaked out too. To make matters worse, she didn't even mention the cysts to me until my 35 week appointment! For both babies, though, I got a more sensitive ultrasound, that checked specifically for the baby's heart. With both babies, the heart looked fine, and the docs told me the cysts would go away naturally.
You should insist on another, more sensitive, ultrasound. The only reason I can think of why the doc wouldn't want to refer you for one is cost.
Good luck. Try not to let this keep you from enjoying your pregnancy to the fullest.
Hi,
I just wanted to leave a note of encouragement. We too had a chorid plexus cyst diagnosed at our anatomny scan at 20 weeks. It was the only marker for any abnormalities and our baby was born healthy. She is doing just fine and is a big beautiful 6 month old. I can imagine the fear that you feel and I hope for the best for you and your family. I have you and your baby in my heart.
-a
Post a Comment