At just about 13 weeks, I headed back to Desert Perinatal Associates for the highly anticipated, and slightly dreaded, genetic testing. It was not a moment too soon because waiting the four weeks was hell on my nerves. As I mentioned in my last post, I opted for the recommended non-invasive testing, banking on the hope that I wouldn’t need to consider further testing. The thing to know about these tests is that no test is perfect. The results are more about probability than diagnosis. I was given the MaterniT21 blood test and my baby had an NT or Nuchal Translucency scan.
The Nuchal Translucency Scan
This test is essentially an ultrasound, which means you get to take a peek at your baby. Yay! During the process the thickness of the fluid buildup at the back of the baby’s neck is measured. If the area is thicker than normal it can be an early sign of Down Syndrome, Trisomy 18, or heart problems. A normal reading for a developing baby at 13 weeks is 1.6 to 2.4.
One of my favorite things about the technicians at this office was the way they handled my ultrasounds. They were never hurried and always allowed me to watch my baby for a little bit. This time my baby decided to show off her flipping skills! Here again, I was not worried or scared. If you’re sensing a pattern you’d be correct. Each and every time I was able to see my baby on the screen all the worry and anxiety left. I simply was able to marvel at her while the technicians did their thing. I gave my baby a mental high five when she decided not to cooperate because I could spend a few more minutes staring at her.
When the ultrasound was over I got my pictures and waited for the doctor to come and give me the results. He came bearing good news! My baby’s Nuchal reading was 1.7. Perfectly normal! Oh sweet relief! That was one less thing to worry about. However, it’s worth mentioning that this is the least accurate test for Down Syndrome. This test by itself will only detect 70-80% of babies with Down Syndrome. The accuracy goes up to 80-90% when this test is paired with the MaterniT21 blood test. So off I went to have my blood drawn.
The MaterniT21 Blood Test
The MaterniT21 testing process is pretty simple. You just have your blood drawn. Your blood is then screened for your baby’s genetic information. This test screens for Down Syndrome and other chromosomal abnormalities. It will also reveal your baby’s gender. There is not much to say about my experience here. I’m not queasy about getting my blood drawn so the hardest part of this test was…well…once again…the waiting. Knowing her nuchal scan was normal made it a bit easier, so I passed the time on Pinterest looking for clever ways to announce my baby’s gender.
Two weeks later, I got the call from my genetic counselor. She was happy to report that there was less than a 1% chance of any abnormalities! I don’t have adequate words to describe the relief. The results of the combined tests were enough for me. I saw no need for further testing and neither did either of my doctors.
Before she ended the call she asked me if I wanted to know the gender. When I gave her an excited “Yes!” she laughed and asked me if I had any hunches. I told her I was pretty sure I was having a girl. That was the honest truth. I was absolutely sure I wasn’t carrying a boy. My confidence did nothing to quell my delight when she said, “You’re correct! It’s a girl!”
So it was happy news all around. With genetic testing behind me and sure I was having a baby girl, I could enjoy being pregnant. I just needed to watch my blood pressure.
Or so I thought…
Parting Thoughts and Advice
Abnormalities can happen to anyone, regardless of the age or health of the mother. For that reason, I think this testing is an important part of any pregnancy. They’re expensive, but if you are of advanced maternal age, the two tests I took are available to you and most likely some or all of the cost will be covered by your insurance. I didn’t have to pay anything other than my normal co-pay.
You should also be aware that, as I said earlier, these tests are not diagnostic. They do have a pretty high rate of accuracy, but think in terms of probability, not diagnosis. There are tests that can tell you for sure if your baby has an abnormality, but those tests carry a risk of miscarriage. In my opinion, it’s better to get an idea of how likely it is that an abnormality will occur and let that inform your decision for more diagnostic testing. You can also opt to not test at all. I spoke to many women while I was pregnant who refused the testing, deciding from the beginning that it didn’t matter to them.
That’s all this week…Until next time!