As some of you may know, I'm pregnant with a baby due in August. (If you didn't already know... surprise!) This is baby number four for us and we've always been very lucky to never have any complications regarding pregnancy or birth. This time around, though, my quad screen came up positive for a higher risk of Down Syndrome. I didn't get the results until much later than I should have because there was a mixup at my doctor's office and numerous other little things that honestly just don't matter at this point.
After explaining the meaning of the test results, we were referred to a genetic counselor. I had done some research at home before going into the consultation. I often call myself "Dr. Google", which is sometimes good... and sometimes not. :) In this case, however, it was good to have a bit of information under my belt when I went in, so I was able to discuss things without being completely in the dark.
As far as my situation, by the time I had the results of the quad screen, I was too far along for CVS, which is chorionic villus sampling. For more information on CVS, click
here. I also did not want to do an amniocentesis. (Information on amniocentesis
here.) It was a personal decision, but I decided that I did not want to do any invasive procedures that might (even slightly) have the possibility of any kind of negative effect on the pregnancy. Both of these tests are wonderful medical procedures, but to me, any risk (no matter how small) was too much for me to swallow... especially because it wouldn't have an effect on how I chose to proceed with the pregnancy. I knew that it wouldn't change anything, and decided to look at the other options available.
In my research, I had come across information regarding a new test that was non-invasive. The new test was MaterniT21 and I wrote it down to ask the genetic counselor if it was available and how I would go about doing it. I also decided to get a Level II ultrasound to look for
soft markers.
The new MaterniT21 test is a simple blood test. They analyze your blood, which also has a small amount of the fetus's DNA as well. They check the DNA for chromosomal abnormalities (in children affected by Down Syndrome, there will be an extra copy of chromosome 21), and the results from the test are supposed to be 99.1% accurate. The really big benefit is that it is noninvasive, whereas an amniocentesis (requires taking a sample of amniotic fluid) or CVS (taking a sample of placental tissue) are invasive and carry a small risk of miscarriage or preterm labor.
Going into the appointment, I was a little intimidated. I didn't really know what to expect, but the counselor was extremely nice and understanding. I told her the steps that I wanted to take and we agreed to work together on finding out whether or not this was something that I had to prepare for. I had the Level II ultrasound that day. It was about an hour-long ultrasound where they looked for soft markers, and I even got some pictures. (My ultrasound tech was phenomenal. Such a sweet lady.) I received a box for the MaterniT21 test and was told to go in at my earliest convenience. The hospital lab was already closed for the day, so I made plans to go in the following day.
Here is the box that I received. I was told that opening it wasn't a big deal, but to leave the tubes and lab pouch intact. I knew I wanted to do a blog post on the entire process, since I thought others might like to see it broken-down. The pamphlet I was given is towards the end of this post as well.
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MaterniT21 box
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| Inside flap. |
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Specimen pouch with vials and your patient slip.
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Cold pack at bottom.
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When I went back to the hospital for the blood test, I brought the box with me and sat in the draw room. Amazing how they all look exactly the same.
The draw is a really quick one. Thank goodness!
And that was that. The genetic counselor had told me that the results would be in in 8-10 business days, but there was a little bit of a delay getting them. Not bad, though. I had my results in 14 business days, but mine was the first MaterniT21 test that happened at this specific facility, so that might have something to do with the reason for the delay. Still, I was given the results over the phone and I've got a follow-up ultrasound just to check growth progress.
BTW, results were negative! Growth so-far is great and it seems like this one is going to be as chunky as my other babies were.
For more information on MaterniT21, you can check out the
Sequenom Center for Molecular Medicine® website.
Here is the pamphlet I was given for the MaterniT21. It may be able to help answer any questions you have. My scanner couldn't get the whole thing, so I had to break each side into two photos.
And the other side:
I hope this post helps you understand the test in a little more detail. It was very exciting to me to find out about another non-invasive option (aside from an ultrasound). This test was also completely covered by my insurance, and the company makes an effort to keep the cost of the test as low as possible if it is not completely covered by your insurance.
I chose to take it to prepare ourselves if our baby ended up having Trisomy 21. No matter your reasons for choosing or not choosing to take it, it is nice to know your options either way.
