To Test or Not to Test for Down Syndrome
Last year, the news of Iceland’s low rate of babies born with Down syndrome brought the subject of prenatal testing to the forefront of discussions among parents and the Down syndrome community as a whole. Some people were very vocally against them stating that people use the test to determine if they want to terminate. Others were still in support of the tests because knowledge is power. So, to test or not to test for Down Syndrome?
Before I continue, I want to clarify something. There are two types of prenatal genetic testing: screenings and diagnostic. Most pregnant women will get screening tests, or the option to have them, as part of their routine OB care. They typically comprise of ultrasounds and blood tests. Diagnostic testing is typically offered after a screening test has shown a risk of something. Diagnostic tests are invasive and do carry a small chance of miscarriage. But there are other risk factors that could make the risk of miscarriage a risk worth taking.
I have seen a lot of varying opinions on prenatal testing. The most common are:
“I will love this child no matter what and will not end this pregnancy, so what is the point?”
“I need to know if this child has any major conditions in case I need to terminate.”
“I will do screenings but there is too much risk with invasive testing so I will stop there.”
“I need to know so I can be prepared.”
When I found out I was pregnant with my daughter, I had prenatal screenings done. I had a nagging feeling that I needed to. She was measuring too far to get the Nuchal Translucency Scan done, but we went ahead with the Quad Screen later on which told us our risks for genetic abnormalities were very small. When we had the anatomy scan done at 20 weeks, they found a “soft” marker for Down syndrome. This led to another scan, where they found the same marker and it left us with one of three decisions: 1) do an blood test which is another scan but catches most cases of Down syndrome, 2) have an amniocentesis done to give us a yes/no answer, or 3) do nothing.
I remember us sitting in the genetic counselor’s office, listening to the statistics, her chances of having Down syndrome, the tests available to us. It was a lot to take in and overwhelming, but there was one certainty to me. I needed to know for sure, a concrete answer with no room for “What if…..” or “Maybe….”. We already loved our unborn daughter, but I needed to know for sure so I could be prepared. I could not let my anxiety have any wiggle room for hope or doubt in another screening test. I could not spend the next 17 weeks going through what I was feeling right then. We opted for the amniocentesis. We knew the risks and trusted the experience of the doctor.
The next day, we received the Trisomy 21 diagnosis. It was hard news to hear, but at least we knew for sure. I reached out to support networks and Down syndrome associations. We had the extra doctor appointments to make sure nothing was missed with her heart. And 15 weeks later, my amazing, healthy daughter was born. We had already accepted the diagnosis and enjoyed the newest addition to our family.
Everyone will have their reasons why they choose to have or not have prenatal testing. But if you are wondering “What is the point?” knowledge and preparation are two great reasons for it.
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