top of page

Genetic Testing- Sometimes Less is More

We had one of those moments out of a movie- picture this. Husband and wife walk into an ultrasound room at the hospital. Woman gets in the chair, lays back and rolls up her shirt. The ultrasound technician squirts the gel on her belly. The ultrasound technician starts moving the probe over her belly and the image of some little being shows up on the screen. The ultrasound technician smiles and says, “The babies look great!” The wife asks “Babies, plural?” The ultrasound technician laughs and says “Yes, your twins looks great!” Husband and wife’s jaws hit the floor.

That was our experience. Our technician had no idea that this was our first ultrasound and that we had zero idea that we were expecting twins, despite my joking about being enormous. She apologized repeatedly and felt awful about sharing the news with us so indifferently. We were instantly both scared and excited! The ultrasound technician asked if we would like to know the sex and we were unsure at that time so we asked her to write it down and seal the envelope. We couldn’t wait to tell people that I wasn’t just the largest pregnancy woman ever- twins were on the way!

That experience of being overwhelmed and shocked was only amplified as the doctor came in minutes later, repeated the ultrasound and informed us that both babies had soft markers for Down Syndrome, which included both babies having short, long bones. Que the tears of being completely overwhelmed and hormonal.

Talk about a blindsiding morning. We went from going into the ultrasound thinking we had one, healthy baby and in a matter of minutes found out we were having twins that potentially had Down Syndrome. We were rushed into a genetic counselors office and the tears continued to fall, as we were told our options, ranging everything from doing absolutely nothing to terminating the pregnancy.

Our one true moment of happiness was in the car ride home from the hospital that day. We decided not to worry until there was really something concrete to worry about. We also opened the envelope and my wish came true- We were having a Baby Boy and a Baby Girl!

Next Steps- My husband and I decided together to take a moderate route. We started with a blood test called an Alpha-fetoprotein screening (AFP). This was a simple genetic blood test done in the office that was sent to a lab and took two very long weeks to get back. We got our phone call, exactly two weeks from our initial ultrasound while we were in a hotel lobby in Ireland. For us, everything came back negative with the exception of an abnormality on Chromosome 7. Again, the options were laid out to us over the phone, ranging from doing absolutely nothing to having an amniocentesis. We thought about it briefly and decided to go down the amniocentesis route to ease our minds.

On December 2, 2015, we went back to that same ultrasound room and had our amniocentesis. For those of you who have no idea what I’m talking about- this is a procedure where a long, hollow needle is inserted into the amniotic sac to remove some of the amniotic fluid for testing. This test can clear the air about a variety of genetic abnormalities. I laid on the table while one doctor put a ton of pressure on my stomach with the ultrasound probe in order to have a very good image of the baby’s location while another doctor inserted the needle and took out the necessary fluid. As you can imagine, this totally sucks and with twins, you have the joy of doing it twice! The doctor claimed that it would be uncomfortable but not painful and I now totally disagree with that statement. Not only was it painful (my body basically started having contractions as they shoved a huge needle in it twice) but it was emotionally draining. I had a panic attack during the procedure and had difficulty breathing. When both were completed, I cried like a baby while everyone in the room moved around me to clean up and package up the tests for shipping. I felt empty inside and it was one of the worst days of my pregnancy.

Learning moment- I’m constantly reminded of December 2nd because we continue to this day to get bills from the lab company that processed our results. Often, these types of tests are considered voluntary and are not covered by insurance. If you have a similar situation, make sure you speak to your doctor and insurance company to discuss the situation and options (FYI- BCBS did cover it in the end due to the twin complexity but the lab continues to send us bills even though Blue Cross told us not to worry about it!)

I’m now going to jump forward a bit in our story to ease the minds of some other pregnant women out there who may be going through the same thing. After the clean amniocentesis came back in mid- December (yay!) Baby A (my son) was no longer a concern, as the short, long bones began to measure more appropriately. Baby B (my daughter) was a different story- every ultrasound in December, January and February- we heard the same thing, “Baby B has short, long bones which may be a sign of dwarfism or another genetic issue that was not covered in the amniocentesis”. We were crushed every time. Fast forward, when both babies were born, they had zero genetic issues! I know that not every genetic pregnancy story ends like ours but have some faith. Genetic testing can be a blessing for some but honestly, it was torturous for us. We worried for months for nothing! Please believe that miracles happen every day! Stay tuned for the coming of Grace and Cole!

Featured Posts
Check back soon
Once posts are published, you’ll see them here.
Recent Posts
Search By Tags
No tags yet.
bottom of page