My Thoughts on Genetic Testing and Pregnancy

Like I’ve said, I recently had a little girl. Before she made her appearance I got to experience all the wonder of pregnancy. The bloating, gas, waking up a few times to pee every single night. Feeling her move for the first time, hearing her heartbeat, seeing her little head and arms and legs when I had my ultrasounds done. Pregnancy is hard and uncomfortable and seems like it’s never going to end.

It’s also the most amazing and beautiful thing I’ve ever experienced.

One of my routine prenatal visits ended with my midwife asking if I wanted the genetic screening done on my baby. She told me to let her know at my next visit and they’d get the bloodwork done then. When my husband got home from work I mentioned it to him and asked if he thought it was a good idea. He didn’t see any reason to refuse any kind of testing that wasn’t invasive.

I had my blood drawn and shipped off when the next appointment rolled around. I didn’t put too much thought into it. I knew my little girl was perfect.

A week or two later I was waiting for my husband to get home from work when my phone rang. I saw that it was my midwife and thought she may be calling to reschedule my upcoming visit, it had happened before. I was not at all prepared for the conversation that followed.

“The results of the genetic testing came in and it came back postive for one of the trisomys. Your baby may have Downs syndrone.”

It was all said in such a pleasant and peppy voice that it didn’t even registered until after I’d made an appointment for the following day and hung up.

Through my shock I still felt it was something that I needed to say to my husband in person so I didn’t call him immediately. I called my mom. I relayed my phone call and burst into tears. The ugly, gasping sobs that really feel like your heart is just being ripped to shreds.

I wasn’t sad for me. I was heartbroken for this amazing little girl that was growing inside me. She wouldn’t be allowed a normal life. She would be stared at, mocked and ridiculed by those who didn’t know any better. She wouldn’t have regular friendships or relationships. She may never get married or have children. All of the things I’d always taken for granted she may never get a chance to experience.

My mom took the news like a pro.

“Okay, Katie. That’s okay. She’s perfect no matter what and we’re all going to love her just as much either way.”

I thanked her and hung up with promises to call later. I knew my husband would be pulling in any second.

He walked up to me and his smile faltered as soon as he saw my face.

“What’s wrong? Is it the baby?” Concern was etched all over his face.

“The doctor called. Test came back positive for Downs.”

I broke down again as I told him. He wrapped me in his arms and started to cry too. This wasn’t the life we wanted for our daughter.

Over the next couple weeks I had more blood drawn for a more accurate test and ultrasounds to see how she was developing. The ultrasounds came back perfect and the sonographer told me that made her odds 1 in 230 of having Downs syndrome.

During that time my husband and I were also bombarded with the question, “What are you going to do?” Friends and family wanted to know if we were going to keep our baby.

The first time my husband was asked his response was, “We’re going to have a baby.” That was all there was to it. She was perfect no matter what color her hair was or how much she weighed or even how many chromosomes she had. We loved her so intensely that all of those things were absolutely inconsequential.

A couple weeks later the bloodwork came back and assured me of the same thing the in-depth ultrasound had. There was a 97-99% chance that our daughter had the normal amount of chromosomes.

My husband and I didn’t feel the relief that we’d expected. We’d gotten over our initial shock and were so grateful that our daughter was healthy that hearing she didn’t have the Downs trisomy didn’t make much of an impact on our lives.

I did learn a lot from the experience though. One thing that sticks out the most is how common that original misdiagnosis is. When I originally told everyone on social media that our baby may have Downs syndrone I was met with an incredible amount of responses telling me not to trust those results. All of these people had been told that a loved one was positive for a trisomy and had given birth to a baby that had no medical issues. A very close friend of mine shared that she’d gotten the same news and had she known I was taking that test she would’ve warned me against it.

There’s absolutely nothing wrong with having a child that has Downs syndrone. They are amazing and beautiful souls. There IS something wrong with causing pregnant mothers so much worry over a test that has a pretty low accuracy rate. In the future when my husband and I decide to grow our family I’ll be refusing genetic screening and I’ve already warned all of my friends against it.

While I would never terminate a pregnancy there are those that have, do and will. Genetic screening that shows a child may have a condition can be a motivation for a woman to have an abortion.

How many completely healthy, beautiful babies with the ‘normal’ amount of chromosones have been aborted because of a test that wasn’t right to begin with?



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3 thoughts on “My Thoughts on Genetic Testing and Pregnancy

  1. Keith Krekel

    More people should be aware of this.

  2. Cheri'

    Beautifully written! Love it!

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