Genetic Counseling, the NT Scan & Ultrasound #4

We had our appointment with the MFM's office this morning. We were there for more than two hours, between the genetic counseling and the scan and the bloodwork, and spent almost the entire time with doctors and counselors, rather than waiting around, which was great.

We started by meeting with the genetic counselor. I had wanted to meet with her because I had really been struggling with what types of testing I wanted to do. T. had said that we should do whatever I wanted, which was kind, but not incredibly helpful. I am really glad we decided to talk to the genetic counselor. She went through our ages, our medical histories, the medical histories of our parents and siblings and their kids, and then on to aunts, uncles and cousins. I have several cousins who have had children with genetic disorders, as does T. I wasn't as concerned about T's, as my own research had shown that it was X-linked and he therefore could not be a carrier, but it was nice to have that confirmed.

The genetic counselor was really nice and spent a lot of time talking to us about genetic disorders, what gets tested for (essentially, with CVS and amnio, they check all chromosomes for translocations, missing parts, and/or extra or missing chromosomes; amnio can test for neural tube defects and CVS can't), showing us pictures of chromosomes to help explain things, and the timing of the tests (CVS up to 14 weeks; amnio from 15 1/2 weeks to 20 weeks). She said that they only test for specific diseases if there is a particular risk factor for them, and since the disease that runs in T's family is X-linked, there aren't any unusual diseases we need to test for (the ones in my family are the standard ones that get checked for).

The big surprise was that when going through family history, T. happened to mention that his mother had multiple miscarriages (5-6). Although I knew this, I hadn't thought much about it. The genetic counselor, however, said that this might be indicative of a chromosomal defect which could be genetic, and she recommended that he be tested to determine whether he has a translocation or some other issue. She said that this could be behind my miscarriages. It was a simple blood test, and not overly expensive even if our insurance doesn't cover it (she thinks it should, though), so we opted to do it. The results should be in in 2-3 weeks, and we should have them before we have to make a decision about amnio. We would have to go into Boston for CVS, and the stat that the Boston hospital that does the CVS is quoting is 1 in 100 for miscarriage, which is higher than I've read in other places. I think she said the miscarriage rate for amnio is 1 in 400. Based on that, and based on the results of today's scan, as well as the availability of early amnio, I think I've decided against CVS.

Once we were done with the genetic counseling, we went back for the ultrasound. The tech was very pregnant and clearly uncomfortable. I freaked out a little at first, because she couldn't find the heartbeat. Well actually, she couldn't find the baby at all. I think it freaked her out, too. My uterus is tipped backwards, and the way the baby was positioned today made it difficult to spot him (I'm CONVINCED, by the way, that it's a boy). Eventually, she found him, and I started breathing again. She had a great deal of trouble getting a neck measurement, though, because he was positioned feet up. In fact, we got great views of his feet, kicking away! His head, not so much. She was pressing down really hard all over my abdomen, which was quite uncomfortable--particularly on my bladder!

Eventually, she went and talked to the doctor, and then came back and told me to take my pants off in case the doctor needed to use the dildocam. The doctor came in a few minutes later, and was very no-nonsense. She used the abdominal ultrasound wand for about two seconds, found the heartbeat (which measured 167 this visit), said that the baby was "growing well" and the baby's growth was right on target for 11.5-12 weeks (I am 11 weeks 6 days today), and also said that the amniotic fluid was measuring well. She was then able to get the neck measurement, because the baby had moved around sideways. I think the baby must've moved around when I got up to take my pants off (well that, and T. was making me laugh while the tech was out of the room). She said the neck measurement was 0.9 (or maybe she said .09, but I think it was the former), and well within the range of "normal," so no concerns there. And then the MFM was off.

After the doctor left, the tech was really sweet. She put the ultrasound wand back on my belly to try to get a good shot so we could take some pictures home with us. She kept apologizing that she hadn't been able to get a good enough shot to give us a picture. She ended up getting three of them, including this one, which shows the baby's head and his nose on the left side of the photo (I'm afraid he's gotten my nose!), and one little leg kicking away on the right side of the photo.

Once we finished up with the ultrasound, they took a vial of my blood for the screening tests, and T's blood for the genetic testing. They are going to inspect all of his chromosomes for any potential problems. If there are any, we can then have the baby tested during amnio, to see if there are any issues we should be concerned about. My bloodwork will be back by the end of the week, at which point they'll tell us what our risk is for Down's.

I feel relieved that we saw a heartbeat. I feel relieved that things continue to go well. I feel relieved that the neck measurement looks good. I am someone that needs a lot of information. I feel more in control with information at my fingertips, so this was a really good experience.

In fact, I am in such a good place that I decided that we might as well tell people now. I'm never going to feel completely safe, until the baby comes out alive and healthy. . .and then I'll just worry about a million other things, I'm sure! I would love to wait until after amnio, which is just another 3-4 weeks (they'd give us partial results within 3-4 days of having it done, and then full results within two weeks). But, T. doesn't think he can wait that long, and the chances of there being a problem really are quite small. I do know that. I am just a worry wart! So, I'm going to spend some time tonight putting together the things which we will be using to make the big announcement to our families. Look for more for this week's Show & Tell.