Tuesday, April 29, 2008

One in

Yesterday morning was our "official" ultrasound, the 18-week anatomy scan. We saw the gender two weeks ago at my mom's office (the perks of being the daughter of your RE's nurse!), so we were just expecting to confirm that it really was a boy, and to find out if his legs really were as long as we think they are.

Yes, he's still a boy, and yes, his little baby legs are measuring over a week ahead of the rest of him.

He also has bilateral choroid plexus cysts in his brain.

The cysts aren’t dangerous in themselves, and aren’t associated with any sort of developmental delays. None of them are especially large, although he has more than one in each hemisphere, and chances are good that they’ll spontaneously disappear before he’s born anyway. However, they’re a soft marker for chromosomal disorders, especially trisomy 18, which is vaguely similar to Down’s but is usually fatal before birth or in infancy.

No other soft markers were seen on ultrasound, which is good (although the whole scan took less than 20 minutes, so I’m not sure exactly how closely they looked for some of the subtler signs). Pubmed is all over the place on what exactly the odds are that a baby with isolated CPCs has Trisomy 18, but it seems to be something like 1:275, depending on things like maternal age and abnormal quad screen results.

I had not planned on having a quad screen done, because I didn’t want to wind up having an amnio, with its associated risk of miscarriage. However, since the torment-yourself-with-potential-false-positives part of the program is already taken care of, I signed the form for the quad screen bloodwork yesterday. If it comes back suspicious, we’ll have the amnio ASAP, because it’s very important to me to know *for sure*, regardless of my feelings about termination (which I don’t especially feel like discussing now). I don’t know when the quad screen bloodwork will be back -- I’m supposed to see the doctor again in two weeks, though I will probably call and ask about the results well before that.

My husband keeps insisting that 1:275 is really low odds, and that it’s useless to worry about this now, but I don’t think those are so low at all. Someone has to be in those numbers -- to be exact, about 150 someones this year across the US -- and I’ve been the one-in-a-large-number on more than one occasion. It most likely won’t happen to us, but there is a real and non-zero possibility that it will, and we just have to wait and find out.

Everything else was okay-ish at the doctor’s visit -- cervix looked OK on ultrasound, although they didn’t measure length or anything. We started 17-alphahydroxyprogesterone shots just in case, as a preventative measure for preterm labor, and Dr. Pro wants to follow me more closely from now on, every two weeks. We’ll start talking about nifepidine or terbutaline in a few more weeks, especially if my cervix starts looking iffy.

I hate that I am having to worry about all this -- I just want to be happy and paint the damn nursery.

4 comments:

Eva said...

So sorry you have to deal with this. I hope that the quad screen brings back good results and that things go in the right direction.

Nic said...

That's scary, but hopefully it does turn out to be nothing serious.

Have you started having contractions already? I've been noticing them since 12 weeks this time, but not nearly as regular as when I was pg with Ant. I think I'm going to ask for regular cervical checks though, just to be on the safe side.

Emma B. said...

Yes, Nico, the uterine irritability started at 13 weeks, which is about when I noticed it with the girls. That's why we started the 17-p, just in case. PIP again, just like old times...

pinky said...

Emma I am sorry to hear about your contractions. Are you on best rest now? What is 17p?