Down's Syndrome Scare

AMA: American Motorcycle Association? Academy of Model Aeronautics? American Medical Association? No, no, and no. My most recent encounter with this acronym was last Thursday when I went in for my Level-2 ultrasound.

To be admitted to the Maternal and Fetal Medicine Clinic, women must be referred by their primary care obstetrician. The clinic, located within a hospital, "offer[s] a comprehensive range of personalized high-risk obstetrical care and fetal diagnosis and treatment services." As I filled out the paper, I was interested to notice that in the space for diagnosis, it listed Advanced Maternal Age: AMA. Even though my previous two pregnancies have gone smoothly with not a single complication, I am now classified as "high-risk" and am in need of a more detailed ultrasound simply by virtue of my age.

Of course, being of advanced maternal age, and having that reminder each time I visit the doctor's office, I have worried about Down's. Of all the possible fetal complications for older mothers, Down's is probably the most well known and the increasing risks by age are well documented. I have worried on and off about Down's since we found out I was pregnant.

That fear was almost completely eliminated when I received the results of the maternal serum screen that is given at 16 weeks to evaluate risks of neural tube defects and chromosomal abnormalities. I passed with flying colors, with my odds of Downs coming back as 1 in 3500. This is compared to a rate of 1 in 225 for my age group. The doctor said that I had a similar risk to a 20 year old, but looking at the chart I cited earlier, the screen gave me a much lower risk than the average 20 year old.

I scheduled my ultrasound for 21-weeks, since we were out of town and this was the soonest we could do it. After it was over, a doctor came in and talked to us about the results. Everything looked fine, save for one thing. The baby's nuchal fold was extra thick. The technician's three measurements were 5.5 mm, 5.5 mm, and 6.2 mm. The average for a baby of our gestation is closer to 3. An increased nuchal fold is a primary physical characteristic of Down's babies. We talked with the doctor for quite a while, asking a lot of questions, trying to understand the evidence and what our options were. With what they saw on the ultrasound, the doctor put our risk for Down's at 1 in 175.

After talking for a few minutes by ourselves, we decided to go ahead with an amniocentesis so that we could find out for sure one way or another about our baby. I know myself. I am terrible in transitions, and if we did have a baby with Down's, I knew that I would be much better able to handle it if I had time before he was born to do research, talk to specialists, and find support groups. I also knew that I would worry incessantly for the entire second half of my pregnancy if I didn't know, even if the risk was less than 1%.

The amnio wasn't as bad as I had always imagined that it would be. It only felt a little worse than getting a shot. Happily, the needle was a lot shorter than I expected and I just held AJ's hand and looked away. It was over quickly, and I didn't even need a band-aid. I felt fine the rest of the day.

They told us to expect the inital results by Monday. The full chromosomal panel would be completed by 10-14 days, but with certain labratory techniques, abnormalities in several chromosomes could be detected much more quickly than that.

I held it together pretty well on Thursday. I was processing everything the doctor told us and after we returned home, I tried to find more detailed information online about risks and what the doctor told us. I went to bed pretty early (continuing jet lag) and then got up at 4 am on Friday when T climbed into bed with us and I couldn't go back to sleep. That's a long time to be alone and quiet in the dark and by 7 am I was worried and in a state. My emotional reaction was: "I cannot handle the kids I have now. There is no way I could handle a special needs child."

The whole day Friday, I felt really tired and down. I was worried about what would happen and couldn't set aside my anxieties. I was hunkering down for a long weekend with my worries, wondering if I should skip out of church. But, then I got a call from a genetic counselor associated with the clinic at about 4:30 that afternoon. We were clear--everything looked good. I asked a lot more questions, but was just relieved to get the word and get it so much sooner that I had anticipated.

Oh, and although we saw really clearly on the ultrasound (I love this shot AJ described as baby porn) , the chromosomal tests confirmed that our baby is XY all the way. T has decided that we should name the baby Sportacus. I think it sounds great with out last name, and so we will be calling him that for the duration of the pregnancy.