Anatomy Scan Results

In early July, I went in for my 20 week anatomy scan. The tech couldn’t tell Bryan and I anything, only that the scans needed to be read by a doctor first and would be discussed at my next appointment a few days later. I knew this was standard procedure, and she did say that a lot of things looked good during the scan, so we left feeling good. I still had anxiety about it, but that is normal for me.

Several days later, I had my monthly OB appointment. The doctor (one of several in the practice) looked at the anatomy scan. Our little girl is in the 34th percentile which is apparently good. If everything was good, I wouldn’t be writing this post. They did not see a nasal bone on the ultrasound, which is a soft marker for Trisomy 21 or Down Syndrome. Bryan was in school so it was just me getting the news. I was trying not to cry as she told me this while trying to remember everything she was saying so I could relay it to Bryan.

A soft marker for Down Syndrome means that they see this trait in babies with DS, but not all babies who have this have DS. It could be that she is perfectly normal and the nasal bone is just slow in developing. It could be that the tech just did not get a good shot of it at the anatomy scan. Or it could that she does have Down Syndrome.

While we were unable to get the Neuchal Translucency Scan (NT Scan) done because she was measuring too big to get a good reading, we did have the Quad Screen (blood test) done and that came back normal. These only test for the probability of having a child with genetic abnormalities, not whether or not they do. Based on the Quad Screen, my chances were 1/470. Based on just my age it would have been 1/700 so I’m not sure what raised the chances from that. However, the doctor said that they do not worry until it is at 1/200 or greater.

With the Quad Screen results and finding only one soft marker, the doctor tried to assure me that I should not worry too much. However, they sent me to get a Level 2 Ultrasound for Detailed Fetal Anatomy, and to meet with the high risk doctor (also known as MFM specialist, or Maternal Fetal Medicine Specialist).

The ultrasound and appointment were scheduled for a week and a half after I got the results. It was a difficult 9 days, dealing with the uncertainty and what-ifs and anxiety. What if the tech just missed the nasal bone in the ultrasound? What if she doesn’t have a nasal bone? What if she does have Down Syndrome?

The day finally came and Bryan had taken the day off of school to be there as it was important to him too. This is his baby girl. We arrived at the hospital early, one of the best maternity hospitals in the city. We had our ultrasound and they still could not find a nasal bone. Everything else looked great. There are no other markers for Down Syndrome present. After the ultrasound tech was done, the doctor came in to talk with us. He explained that on the scale of severity of markers, an absent nasal bone falls in the mid-range. It affects the risk 12-fold. So our risk is now 1/40. I did like this doctor as he talked with a very reassuring tone. I don’t know if he could tell I was anxious or what, but it helped.

After meeting with him, we saw the genetic counselor. She told us that the absent nasal bone is not a soft marker, but a strong marker for Down Syndrome. I was feeling confused because we had been told by 2 doctors, and what I had read online, that it is a soft marker. She said that my risk based on my age is 1/420 not the 1/700 my OB told me. That with the absent nasal bone, our daughter has a 12%-20% chance of having Down Syndrome. I’m usually good with numbers but all of this conflicting information was hard to make sense of. She did explain why Trisomy 21 (or any of them) happens. When a baby is conceived, they get half of their DNA from mom and half from dad. Sometimes, for an unknown reason, mom or dad will send 2 of that chromosome instead of just 1. She was not worried about Trisomy 18 or 13 as we would have seen other issues with those. She did go over our options: a blood test that is another screening but is supposed to catch 99% of Down Syndrome cases, an amniocentesis test where they take some of my amniotic fluid and test it to give is a definitive yes/no answer, or do nothing at all.

After talking it over, we decided to go with the amniocentesis test. I needed to know for sure. There is a slight risk of complications from the test, as with any invasive test, but not knowing for sure was going to drive my anxiety to new highs and that is not good for any of us. They were able to get us in right then to do it, which was helpful. We were taken into an ultrasound room where they sterilized my belly and used an ultrasound probe to keep an eye on where our daughter was during the test. First, they gave me some numbing medication for the injection site. Then they used a very long needle (I admit I didn’t look, though Bryan says it was about a foot long) and inserted it through the numbed area of my belly, into my uterus to pull out some amniotic fluid. I didn’t feel pain, but the level of uncomfortableness and pressure was almost as bad. It took about a minute, and our daughter was just fine through the entire thing. Afterwards, we were sent to get some blood drawn so they could be sure to distinguish my DNA from our daughter’s. We were told to take it easy the rest of the day and we could expect a call the next day with the FISH results, or preliminary results. The full results would be 7-10 days.

We got the call last week with the FISH results. They tested 25 cells from the amniotic fluid. All 25 have 3 of chromosome 21. The genetic counselor told us that they have never seen the FISH results be positive and the final results say otherwise. Our little girl has Down Syndrome. It is devastating as we were not expecting it and this will be 2 of my children with varying degrees of special needs. It is hard and heartbreaking. We both cried a lot. It is going to take a lot of adjusting for us, but I am glad we know now rather than the day she is born so we have that time to prepare and adjust.

Yesterday, we received the final results from the amniocentesis. It does confirm the Down Syndrome diagnosis, which we were expecting. Luckily, she tested negative for the other genetic abnormalities they tested for, such as Trisomy 13, Trisomy 18 and Spina-bifida. They do want us to come in for a fetal echo cardiogram, which is a scan of her heart, to triple check that there is nothing wrong. They have also recommended we start doing additional monitoring, such as Non-Stress Test (NST) or a Biophysical Profile (BPP), as the Down Syndrome does leave us at a higher risk of miscarriage or stillbirth. That is a very scary thing to hear so we are going with the additional care in order to give our little girl the best chance possible to meet the family that loves her already.

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