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18 week update - Elizabeth Unexplained
Lots of data but no answers
18 week update
I had my 18 week ultrasound today. It was mostly good, but the 'mostly' is a kicker. The fetus has a four chambered heart that is beating nicely, kidneys, a bladder, a stomach, appropriate brain structures, a face and a spine that all look good. On the other hand, the doctor saw a bright spot on the heart that he said was probably nothing, but it's presence doubled the risk of the baby having Down's syndrome. I then realized that I hadn't actually gotten to results back from my early screening. I had been pretty relaxed about this pregnancy, partly because I have an active toddler keeping me busy and partly because when you start feeling fetal movement at 12.5 weeks it's hard to worry about the little one. Now on the other hand I am concerned. I called my doctor's office and spoke to the nurse about the test results. She said my risk of Downs was 1 in 520 according to the screening, and they didn't have today's fetal survey yet. She said not to worry, it was probably nothing. It probably is, but since I've been told not to worry before about things that turned out to be pretty major problems, I am not so easily convinced. If the ultrasound doc is correct and the Down's risk is effectively doubled, that would be 1 in 260, which is in the territory of what is considered a 'positive' on the early screening. It's still not a high risk, but it's high enough that I am concerned. I think I will be calling the office again tomorrow and asking to speak to my actual doctor about it once they have the fetal survey. I don't especially want an amnio given my blood type and all, but then again I don't want to spend the whole second half of this pregnancy worrying.

In other news the fetus has a penis, giving us one of each assuming all is well with the little guy.
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enugent From: enugent Date: September 4th, 2009 05:27 am (UTC) (Link)
If those are not exactly the numbers I had for Howard, they are darn close. I realize that this anecdote does not prove anything one way or the other. But still, 1 in 260 is pretty good odds.

Good luck. Are they going to do another scan next month?

And congratulations on the penis. Are you going to name him George for symmetry?
psychohist From: psychohist Date: September 6th, 2009 02:21 am (UTC) (Link)
The question for worrying right now is, "do we do amnio". Did you?

George Warren or George James would be fully symmetric, but neither sounds all that good. He's got one grandmother who really likes James and the other who really wants to avoid it. We'll see what happens.
enugent From: enugent Date: September 8th, 2009 05:20 am (UTC) (Link)
We did not (well, I had an amnio at 36 weeks to check for lung maturity, but not one to check the genetics). As I further rack my brains trying to remember, I think my numbers were actually the reverse of yours - 1 in 260 on the basis of the triple screen, going down to 1 in 520 because we didn't see any soft markers at the ultrasound. (And the perinatologist that I hated with a burning passion, after giving me that number, told me, "But you've been through a lot. For you, I'll say one in a thousand." I wanted to ask if he sold used cars before he went to med school.)

I'm sorry that you're having to deal with this. It sounds sort of stupid to say that whatever you decide will be right, but I think it's true. If it's going to prey on you for the whole pregnancy, then the amnio may be worth it even though the odds are still quite slim. If it won't, then it may not be. But as long as you think it through, I suspect you'll end up being OK with whichever option you choose.

As a somewhat amusing aside, Dorothy and I each have another of the soft markers for Down Syndrome (only one line across the palm, instead of two). It's only on the left hand for both of us. And I'm pretty sure you've heard that the doctors explained to my mother that I was severely brain damaged during my birth. (I was born asleep.)
psychohist From: psychohist Date: September 8th, 2009 05:57 am (UTC) (Link)
Heh. Options we won't be okay with:

1. Not doing the amnio and ending up with a Down's baby.

2. Doing the amnio and losing the baby because of it.

There's also the added rh complication.
enugent From: enugent Date: September 8th, 2009 05:22 am (UTC) (Link)
Oh, and on name symmetry - if you want to go for something a little more subtle, one of the things we did was to look for a male name that had a similar profile of popularity over the years to Dorothy. Howard peaked around the same time, and tapered to similar lows at present. I do think that their names "match" in the sense that they sound like they're from the same family. And it's been very nice having them be the only ones with their names in their social circles.
psychohist From: psychohist Date: September 9th, 2009 02:59 am (UTC) (Link)
Um, congratulations? I don't mind a boy, but I have no idea how to bring up a mixed sex family; neither Elizabeth nor I come from one!
enugent From: enugent Date: September 9th, 2009 05:35 am (UTC) (Link)
You'll figure it out. My brother and I have a spacing only a little closer than Margaret and her brother will. I think it's actually probably a little easier - we didn't fight as much because we were interested in different things. But I know my mother really liked having us so close in age (once we were past the toddler years, anyway), because we were able to do roughly the same stuff at the same time - it made it easier to do things like plan vacations. Plus we got better financial aid by both being in college at the same time.

I will share one tip about infant boys, though - we kept a stock of baby washcloths on the changing table so we could always put one on the penis during diaper changes. For quite a while, it seems like they pee every time you take the diaper off, and it goes everywhere. (One of our friends didn't take precautions during a midnight diaper change and got hit square in the open mouth.)
chenoameg From: chenoameg Date: September 5th, 2009 07:02 pm (UTC) (Link)
Blech. I'm sorry that you have to worry about this.
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