After having a miscarriage at eight weeks this year, I found out I was pregnant again at around six weeks. I was excited and nervous to be pregnant so soon after miscarrying. I made it past the eight weeks scary zone and I had my first appointment with the genetics counselor at 12 weeks to determine any risks associated with my pregnancy. We opted to do an ultrasound and the new cell-free fetal DNA (Panorama) testing. The ultrasound looked wonderful and showed no soft markers for any kind of birth defects. I was excited that everything looked good and I was almost on my way toward the second trimester.
The ultrasound looked wonderful and showed no soft markers for any kind of birth defects. I was excited that everything looked good and I was on my way toward the second trimester and out of the danger zone. I anxiously waited for the phone call to tell me that everything was normal, and whether I was having a boy or girl. I really wanted a girl because I already had two boys.
When the call came, it devastated me and drastically changed my life. The screening test came back positive for Trisomy 21 (Down Syndrome). My baby was a girl. I wanted to believe that this was a false positive test and opted to get the amniocentesis, a diagnostic test.
Because of the risk of miscarriage, I had to wait until I was 15 weeks pregnant before I could get the amnio. Those were the longest days of my life. I hung desperately onto hope. It was gut wrenching.
The day of the amnio I was a nervous mess. The high-risk doctor who did the testing looked closely at the ultrasound for heart defects or other soft markers for Trisomy 21. She said the umbilical cord only had two vessels instead of the needed three (a soft marker). She also saw a hole in the bottom chamber of the heart and an AV canal defect (very common in Down syndrome). I broke down crying after getting this information. I felt tremendous grief and that my weeks of pregnancy and being sick were in vain.
I waited for three days with a little hope that the screening test was wrong and the diagnostic test would show no problems. Unfortunately, three days later the FISH results confirmed Down syndrome. Now, what to do?
I didn’t want to end the pregnancy. But after careful consideration of my circumstances and our baby’s, my husband and I decided to terminate the pregnancy. This decision was based mostly on the structural heart defects and the pain our baby would suffer through having surgery. The hardest part in all this was wanting her so badly. I also worried that if I continued the pregnancy with the heart diagnosis, she wouldn’t make it full term.
I have a renewed hope in knowing that I will see her one day, not in this life but the next to come. I love her. I believe that all this was for a reason that I may never know until then.