Our Prenatal Testing Rollercoaster

Modern medicine is absolutely phenomenal. The things we are able to see and find out about growing babies inside a mother's body is astounding. So many babies survive serious medical obstacles because of diagnostics that are able to be done before birth.

One of the newest forms of testing is called Self Read DNA testing. The theory behind this testing is that fetal DNA leaks into the mother's blood which can be extracted from a normal blood draw. This testing can be done as early as 10 weeks and can determine gender and other chromosomal information with precise accuracy.

During our initial appointment at our OBs office when I was pregnant with Olivia we were told about this type of testing. Because it was such a new diagnostic test, the closest lab was offering the service for $25 instead of the thousands that it will eventually cost. Paul and I decided that extra information is always good to have, plus it would be fun to find out the sex of the baby earlier than ultrasound testing.

I gave blood at almost exactly 10 weeks and about two weeks later I got home from picking Gavin up from school and had a voicemail from my doctor. In hindsight, I should have realized that my doctor wouldn't be calling with normal test results, but it never occurred to me. Later that night while I was soaking in the bathtub she called back.

Dr. Huffman gently but firmly explained to me that our test had come back positive for Trisomy 21, which meant that our baby had a 99.7 percent chance of having Down Syndrome. She stayed on the phone with me for 45 minutes but I honestly can't remember much of what we discussed. I do remember her asking me to come in to her office the next day. I managed to hold back tears until I got off the phone with her but as soon as I hung up they came bursting out. I called Paul up to the bathroom and broke the news to him. He hugged me and we began to figure out what this would mean. It was only after we had been processing the information for over an hour that we realized I had forgotten to ask the gender of our baby.

The next day at the doctor's office, Dr. Huffman revealed to us that we were having a baby girl! This confirmed that we had correctly guessed what the baby's sex would be.

It was the earliest she had ever had a Trisomy 21 diagnosis for a patient. We would need to start seeing a high risk OB moving forward, but she would continue to see me as well. There was also an additional diagnostic marker that we could look for on an ultrasound, so the three of us crammed into the ultrasound room to check her nuchal skin fold.

As the ultrasound tech started setting up to do the measurement, Olivia started bouncing on the screen. It was an incredible feeling during such an emotional time. It felt like she was telling us that regardless of anything, she was doing okay! Her nuchal skin measured within normal ranges, but Dr. Huffman told us that the self read DNA test was extremely accurate and we should trust those results.

A few days later, we were in the office of a genetic counselor at the hospital where I would be seeing the high risk OB. We did a genetic map and discussed all of the risks that come along with a Down Syndrome diagnosis. I would have to deliver at the hospital downtown instead of the hospital where Gavin was born. My OB would not be there and the baby would potentially have to go directly to Riley hospital where they have a pediatric cardiology unit because it is very common for babies who have Down Syndrome to require open heart surgery within their first few days of life.

We also discussed additional testing that we could do to confirm the diagnosis. It could also potentially give us more information about her chromosomes. The first test they suggested seemed too risky to us. The chance of miscarriage was far too high for our comfort. The next text suggested was doing an amniocentesis. The way an amniocentesis is performed is by using an ultrasound to insert a needle into the amniotic sac to withdraw the amniotic fluid.

Paul and I decided to schedule the amniocentesis. We decided that having as much information as possible was important in moving forward. We also had to schedule an echocardiogram to determine the state of our baby girl's heart.

The time between our first few appointments and the amniocentesis dragged slowly by. First things first, we talked to Gavin about the diagnosis. As much as is possible for an 8 year old, he seemed to understand that his new sibling was going to be extra special. Most of all, he was just extremely excited to find out we were having a girl! Next, we told all of our immediate family and a few of our friends.

I am a huge reader, so I started devouring as many books on Down Syndrome as I could find. We had been given contact information for a support group as well, but we wanted to wait until we had her to start connecting with other families.

Finally the time came for the amniocentesis. As someone who hates needles, I will just say that I do NOT recommend it. Kidding... sort of. Obviously it serves a very important function, it just wasn't fun. I didn't watch the ultrasound when they inserted the needle, but Paul did, and he thought it was pretty incredible to see their precision.

After they take the amniotic fluid, they split it up to do two different tests on it. The first test is called a FISH test, which is where they insert a fluorescent dye into the fluid that makes specific chromosomes light up. For a Down Syndrome test, it lights up the 21st chromosome which allows them to see if there is 1 or 2. This is a quick test, taking only 2-3 days to get results.

The other part of the fluid is taken to the lab where the cells must be grown. This process takes about two weeks and is slightly more accurate than the FISH test. Both tests are over 98% accurate.

Three days after the amniocentesis, I got a call from the genetic counselor. She said that she had the results of our test and advised me to sit down. She was absolutely shocked to let me know that the FISH test had tested negative for Down Syndrome. I was warned that we still needed to wait to get the results of the traditional test, but they had never had a FISH test come back with an incorrect test result.

I called Paul at work and we cried together over the phone. It was so overwhelming for both of us that he left work so that we could be together.

A couple weeks later, we got the call that the other test had come back negative for Down Syndrome as well. The high risk OB released me as a patient, just giving a recommendation that I receive monthly ultrasounds to track our baby's growth. Her echocardiogram was cancelled since the only indication of any heart problem was the Down Syndrome diagnosis.

It was actually really difficult to process the fact that everything we had begun to mentally prepare ourselves for, including excessive health problems, physical therapy and dozens of unknown possibilities, were no longer something we needed to be planning for.

Throughout the rest of my pregnancy, I never fully let go of the concern that she would end up being born with Down Syndrome. Seeing her face after I had her helped a lot, but I double checked with her pediatrician to make sure that she wasn't showing any symptoms of having Trisomy 21.

Sure enough, her chromosomal count is perfectly normal. Olivia is now a happy and healthy 10 month old baby girl. Paul and I still regularly reflect on that emotional period of time.

Olivia would have been perfect with or without Down Syndrome, but she will have a lot less challenges in her life without that extra chromosome.

Thanks for reading such a long post, it feels good to finally talk about the roller coaster ride of emotions we took for about 3 months of my pregnancy.