I had my genetic counseling appointment and genetic testing appointment yesterday. The two are recommended for anyone giving birth at or after the age of 35 (I’ll be 35 and almost 5 months at Riley’s due date). The genetic counselor took down my family history and Mr. W’s family history as far as health and birth defects, and drew them on a giant family tree. Mr. W wasn’t there, so turned out his half of the family tree (as told by me to the counselor) is largely wrong. I don’t know/remember how many siblings each of his parents have and when/what they died from and what kids each of them had. 🙁 They’re out of state. Looking broadly at the tree, however, the genetic counselor wasn’t concerned with birth defects, although she was slightly alarmed by the number of my mom’s miscarriages and the number of people in Mr. W’s family with high cholesterol, hypertension and heart disease. I don’t think my mom’s miscarriages are due to chromosomal abnormalities, tho. I think the incompetent doctors in Taiwan messed her up when they aborted the twins she almost had after me. (One had died in utero so they had to abort the other one.)

After the genetic counselor talked to me about my odds of an abnormal baby and the prenatal testing available, I went to my genetic testing appointment. I had already opted for the full integrated screen, which means they draw my blood to test for problem markers in the first trimester (they already did that last week), combine that with the results of a nuchal transparency ultrasound (yesterday’s 2nd apptmt), and give me a preliminary assessment. Then they take more blood in the 2nd trimester, compare those results to the blood results from the 1st trimester, and give me with pretty good accuracy my odds of having a kid with certain common types of birth defects. So I had my first abdominal ultrasound yesterday for the nuchal transparency test. What they’re looking for is to measure the thickness of the back of the baby’s neck; extra space back there at this point in the development means possible Down syndrome. Ideally, the baby should be on its back, turned about 3/4 away from the screen. As active as Riley was in the ultrasound last week, yesterday he would not cooperate. He first showed up face-down and nearly upside-down as if in a forehead-plant, his butt angled up at my belly button as I laid on my back. It took a few minutes for him to turn around and settle onto his back, but he was so perfectly profile that the ultrasound tech couldn’t get a good picture of the back of his neck. She tapped my stomach repeatedly with the ultrasound wand, had me cough, waited, jostled my stomach again, and he would NOT move. She even had me go to the restroom to empty my bladder to change the dimensions in there, hoping he’d resettle into a position she could use. When I returned to the table to resume the ultrasound, Riley was again face-down in his forehead-plant. The nurse thought it was funny that he flips that way when I’m up and printed out that photo to give me, then called the doctor in to see if she would have more luck. The doctor managed to take a useable photo of his neck, albeit upside-down, and took the rest of his measurements with him in that position. After she finished, she suddenly turned the screen toward me and said, “See, we can’t do a thing to make them move, but they’ll just do it on their own.” I watched Riley slowly turn, kicking with his little feet, and finally lay face-up on his back. She checked out a few more structural things in closeup like his hands, arms, heart. I heard the heartbeat for the first time, a portion of which they recorded and measured. And then I was told my preliminary results.
They had tested for some typical and ethnically common birth defects, given my race and Mr. W’s, looking for markers in my blood. All those came out negative.
A “positive screen” for Down syndrome is considered a probability result of 1 in 100; my probability came out as 1 in 400-some.
A “positive screen” for Trisomy-18 (like Down, an extra chromosome that causes mental developmental problems) is considered a probability result of 1 in 50; my probability came out 1 in 62,000-some.
This is great news preliminarily, and if the 2nd trimester blood test confirms these low odds, I can skip the invasive diagnostic amniocentesis and chorionic villi sampling tests.

Something odd, though: Riley’s measuring developmentally 3-4 days ahead. He was supposed to be 12 weeks 0 days old, but measured 12 weeks 3-4 days old, although the doctor said the extra length may be due to the fact that he was floating face-down, elongating his neck. Maybe he wants to come out and play a little earlier than scheduled.