Many of you may not know much about Trisomy 18. I know I didn’t prior to May 10, 2016. That all changed with a phone call and a meeting with my doctor. But, we’ll get to that in a minute. Trisomy 18, also called Edwards syndrome after the British doctor who discovered it, is a rare genetic condition that causes severe developmental delays due to an extra chromosome 18. It has no treatment, and is usually fatal before birth or within the first year of life.
Around 16 weeks of pregnancy, my doctor drew blood for a quad screen, which is a maternal blood screening that looks at four substances in mom’s blood. Based on the levels of those substances, a computer algorithm calculates the baby’s risk of having Down Syndrome; Edwards Syndrome (Trisomy 18); neural tube defects, and Spina Bifida. On May 10th, the doctor’s office called and said the doctor would like to speak with me about my results. When we walked into the doctor’s office, she told us, “I’m sorry to say that the results indicate your baby is at risk for Trisomy 18.” We were devastated and our heads were spinning, but we had a good conversation with the doctor about how the results are determined, their accuracy, and where to go from there.
The next step was to see a Maternal Fetal Specialist for an in-depth ultrasound. Since the quad screen was just that, a screen, and the accuracy for Trisomy 18 (T18) was around 80%, we wanted something that would, hopefully, be more definitive. Often, baby’s with T18 show very clear markers during an ultrasound, however our ultrasound was considered inconclusive because the traditional markers were not visibly present. We did find out, without a doubt, that we are having a BOY! According to the doctor, there were also several small issues, but nothing that definitively showed her if the baby actually had T18 and nothing that appeared life threatening.
From there, we had two options. One, follow up with another ultrasound in two weeks to see if the markers presented themselves as the baby grew; or, two, do an amniocentesis. For those that may not know, an amniocentesis involves extracting a sample of the amniotic fluid, which is then tested for genetic abnormalities. This test is considered conclusive (98-99% accuracy) because it’s testing the baby’s DNA found in the amniotic fluid. Whether to do the amnio was a difficult decision because there’s a small risk of miscarriage associated with the procedure. Since we have lost two precious babies due to miscarriage before, we were terrified to do something that might cause harm to our little one during this pregnancy. Ultimately, after much prayer and discovering that the risk of amnio complications would only increase due to the babies' size if we continued to wait, we decided to have the procedure performed. We knew that we would not do anything to end the pregnancy, but we felt an actual diagnosis would help us plan for what was to come during the remainder of pregnancy and delivery.
I had the amnio done on a Friday morning and then the waiting game began. They told us we should get preliminary results on Monday or Tuesday, with the full results coming a week or so later. Waiting was a mix of emotions…I felt both anxious for answers as well as strangly at peace with whatever the results were to show. On Monday, the geneticist called. Chris came home from work and we called her back. “I’m sorry, but the test confirmed that your baby does have Trisomy 18.” Devastation, tears, pain, heartache, heartbreak, confusion and a hundred other emotions swept over us. The next few days were difficult, but God is good and quickly filled us with peace that can come only from Him. Although I grieved the situation itself, I knew that there would come a day to grieve our son, but that day was not yet here. We decided, instead, that we would celebrate our son’s life for as long as we have him.
Since receiving the T18 diagnosis, we have had another ultrasound and our little man rocked it! Thankfully, he is growing right on schedule and was moving all over the place. We’re prepared for his growth to slow at some point (it is common for T18 babies’ growth to slow), but we are excited about his progress thus far. Also, the doctors think he has some type of issue with his heart, but they can’t say for sure what it is just yet. Hopefully, we will have a fetal echocardiogram at some point to determine the exact issue.
Other than the typical anxieties of the unknown for a T18 pregnancy, I am feeling fine. God has wrapped us in his peace and surrounded us with supportive friends, family and doctors. I give thanks when I feel his little kicks and am trying to appreciate the little things about this pregnancy and the precious life growing inside of me. We praise God for each day that we continue to have with our sweet son. Regardless of the final outcome, we believe that God has blessed us with a miracle and we will love this sweet child as long as we have him, in utero or out.
Thank you for walking through this journey with us. We greatly appreciate your prayers during this time.
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