First Trimester Screening Results

Went for my NT ultrasound this morning... and all seems to be well! I'll cut to the chase and go over the numbers first, then add some flavor text at the end about our doctor's visit:

Since I already had blood work done previously, the genetic counselor was able to go over the numbers with us right away.

The nuchal fold at the back of the baby's neck measured 1.3 mm (totally normal), and they were able to locate the nasal bone.

Combining these physical results with the blood work (or something), they came up with the following assessment:

The baby's risk for Down Syndrome is 1:1,461 (way down from my initial risk of 1:74 due to my age).

The baby's risk for Trisomies 13 or 18 is 1:2,521 (down from 1:127).

Very reassuring numbers all around!

Since these results are so good, DH and I have decided to forego the CVS test. If something shows up on the Level II ultrasound (now scheduled for January 4), then we might opt for an amnio. But with these great numbers, we don't want to take the risk of doing an invasive test.

Talk about a big sigh of relief! I was really not looking forward to the CVS test. Call me strange, but for some reason getting a catheter threaded up my "hoo ha" is not on my "must do" Bucket List. The thought of being stuck with a really big needle in my abdomen is slightly more palatable, but really I'd much rather avoid either if I can, especially due to their risk of causing a miscarriage.

Some other notable things I learned at today's trip to the perinatologist:

1. My bladder is smaller than a Poland Springs water bottle. I drank the obligatory 24 ounces of water on my way to the appointment. But by time I got there, I already felt I had to pee like a racehorse. I begged the receptionist to let me get rid of some of it, which helped immensely (but oh, how hard it was to stop mid-empty!). I made it through the ultrasound with the tech all right, though I had to do Kegels every time she pressed down hard on my abdomen. Thing is, she wouldn't let me go to the restroom after she was done. "I'm going to get the doctor now and he needs to see you with a full bladder." Oh dear. Well, that didn't work so well. It took him almost a half of an hour to appear, so by about 15 minutes I was in pain. I urged DH to go ask if I could let some more go, and luckily he found someone who showed me the nearest bathroom. Now, if you thought it was hard to stop peeing the first time I went... I don't know how I managed this second time! But, luckily, I was able to keep enough liquid in there for the doctor to get the view he needed. Note to self: a 12-ounce bottle should be fine next time!

2. Apparently I am one of the 6.8 billion (human) freaks of nature inhabiting the earth. Talking to the genetic counselor today, I learned that I have a chromosomal abnormality, a paracentric inversion of chromosome 12. Basically it means that part of the chromosome is upside down (part of the long part of the chromosome), and on only one of the pair. What does this mean? As far as I can tell, not much. Since I'm fairly healthy overall, whatever got messed up in me hasn't manifest, and it doesn't look like it will affect the baby at all, either. What might be affected in the future, is conceiving future children, because if my inverted half of chromosome 12 is the one in my eggs, then it will have to do a flip to match up with DH's half of chromosome 12. I think. I may have totally botched that explanation, but even if it's not accurate the gist of it is true: my chromosome 12 needs to be good at gymnastics.

As for the "freaks of nature" comment above, that stems from a conversation I had with a friend today where she surmised that, likely, all of us have something screwy going on in our genetic makeup, but for the large part of us, it doesn't affect us in any tangible way.

3. I suffer from visions of grandeur. My perinatologist (i.e., high risk doctor) wants me to provide a 24-hour urine sample (due to my hypertension, they want a baseline of my kidney function for future reference). So they provided me with a rather large orange jug, in which I am to collect ALL of my urine during a 24 hour period of my choosing. Well, after the episode earlier where I was convinced that Niagara Falls was going to spew from my bladder, and knowing that I have always had to use the bathroom frequently throughout the day and night (even before getting pregnant), I thought that maybe one of these jugs wasn't enough. And since they said I needed to collect everything, I asked whether I needed a second jug. The nurse looked a little skeptical, but gave me a second one anyway. I soon became extremely self-conscious walking through the office hallways with two jugs, not the least because it seemed all of the staff were giggling at me (they were nice enough not to outright laugh). Okay, so maybe I won't need to pee all that much, but how should I know?! Stay tuned... ;)

Sorry for the uber-long post, but a lot happened today! I'll scan and post the new ultrasound pic tomorrow if I can.