Anatomy Ultrasound

Mike and I went to the big ultrasound yesterday. It was the anatomy scan that typically happens for most pregnancies at 20 weeks. They did ours a little early at 18 weeks. Syracuse handled the ultrasound because they have better equipment than our local doctor and they specialize in high risk pregnancies.

Generally it was very good news. We have to keep in mind that Katie does have Down syndrome and as a result she will be different than typical babies. So, here is the news.

Great News:

1. Spine looks normal
2. Intestines look normal 
3. Stomach looks normal 
4. Kidneys look normal 
5. Bladder looks normal 
6. She is swallowing 
7. Arms, hands, feet look normal

Cautiously optimistic news:

1. The heart looked good. They did not see any indications of the two big heart problems associated with Down syndrome. They still want us to go to the fetal heart specialists in two weeks. Since they are heart specialists and have specialist equipment, they might find something (such as small holes), but all indications look good for a great visit with them.
2. The femur bones (leg) measured a little small, but children with Down syndrome are generally smaller in stature, so this is not a surprise or concern.

Okay news but we will continue to monitor:

1. The fluid in the neck has not gone away (not great news), but it has not started to spread through the body either (great news). This does happen with some babies with Down syndrome, and needs to be monitored because there is a very small chance it could start spreading and be fatal. The fact that it hasn’t already started to spread makes them think it will not, but of course, they won’t make promises and want to wait and see.
2. The umbilical cord typically has three vessels and Katie’s only has two. This is associated with Down syndrome, but also happens in 1 per 100 ‘normal’ pregnancies too. It probably will be perfectly fine, but needs to be monitored because there is a small chance Katie will not get enough nourishment in the third trimester and not grow enough. I think of it like having two kidneys (one is extra) you can lose one and be fine but if something happens to the remaining one it is not good. 
3. There are fluid filled spaces in the brain (ventricles) that are supposed to be a certain size. Katie’s are on the higher side of normal, which is associated with Down syndrome. She is still in the normal range, but there is a 1% chance they will continue to grow. If they continue to get bigger she will need to have a shunt put in her brain at birth to drain the fluid.

If we didn’t already know that Katie had Down syndrome and we had this scan they would have seen the neck fluid, umbilical cord, and brain fluid and suggested to us that she probably should be tested for Down syndrome. Since we already know that she does have Down syndrome, these findings are what would be expected, and are ‘normal for Down syndrome’.

We left the appointment with them telling us that she is a healthy baby with Down syndrome (so far). We already had been told that babies with Down syndrome are high risk for miscarriage throughout the pregnancy and if these things advance (which they probably will not) we may have some trouble down the line, but for now we are looking healthy. The fact that so many organs look good now makes it very unlikely that there will be problems with them later, but of course, they are not going to make promises and will continue to watch everything.

Perhaps the most encouraging news is the Syracuse doctors do not want to see us for 10 weeks! Next on the list is our fetal heart appointment in about a week and a half. After that, there is nothing other than routine pregnancy checks until I reach 28 weeks for our next ultrasound!