It's just a simple blood test, they said.....

We finally got the test results back from the genetic screening blood test I took about 10 days prior. I knew on this particular Monday we would most likely be getting a phone call with the test results. I had been anxious to find out the gender of the baby but never did I really put any thought into the real reason behind the test. It was to screen for the potential for any genetic disorders that might be present in the baby.

The test was called the Progenity test. It is a non-invasive prenatal test that can determine with a high degree of accuracy whether your baby may have certain genetic disorders, such as Down syndrome, Trisomy 13, and Trisomy 18. The test requires only a blood draw, and is safe for mother and baby. During pregnancy, some of the baby’s DNA crosses the placenta into the mother’s bloodstream. DNA is the blueprint of life—it holds all of the genetic information needed for our bodies to function. DNA carries this genetic information on chromosomes. Healthy humans have 23 pairs of chromosomes. Any more or less can lead to problems. The test screens for the most common chromosomal abnormalities, which can cause serious birth defects, intellectual disability, or other problems in the baby. These disorders are not typically inherited. Instead, they are usually caused by a random error during formation of the egg or sperm, or during the earliest stages of the baby’s development.

Around 4 pm that day I get a call from the doctor who I spoke with before the test was administered. I can remember the words clearly: “Your baby tested positive for Trisomy 13.” I immediately started to google the condition while the doctor was still talking. I had previously briefly looked over what the test screened for but I really didn’t know what the conditions were besides Down syndrome. The doctor proceeded to say that she was going to recommend me to meet with the genetic counselor at the hospital and I needed to call to set up an appointment.  She said I would then have the opportunity to get a Level II ultrasound completed to further evaluate the screening results by looking at the baby. I then would have the ability to get an amniocentesis performed to get a diagnostic of the baby’s chromosomes. The doctor then said you know sometimes there are false positives sometimes on these tests but they were rare. I was stunned but knew I had to call my husband immediately to tell him the news.

After calling my husband, I decided I wasn’t going to get anything else done at work so I went home. Once home, my husband and I sat on the couch, talked, and sobbed together. We did some research about the condition and talked about the what ifs. We talked about the next appointment and what we wanted to accomplish. We decided we wanted to get the amniocentesis completed at that appointment. We determined the risks of the amniocentesis were less than the risk of not getting confirmation of what the baby really had or didn’t have.  Never did we ever imagine we would be going through these discussions. After all we just wanted a “healthy baby” but more and more we started to realize that may not be the reality we were dealt.