Tests

 

We told our families soon after we knew we were expecting and got the usual jokes and prods like, “Wow….not wasting any time eh!?” We laughed with them in agreement, because the truth is- we don’t have time to waste. I’ve never had a sense of my ‘biological clock’ ticking…although we both knew if we wanted a little crew of kiddos, we couldn’t put too many months between pregnancies.

At my 12 week ultrasound, I asked the technician if the scan included a nuchal translucency (NT) test. This testing is an early way to detect chromosomal abnormalities in the baby (by measuring the fluid at the neck of the baby) and it had been a standard part of my prenatal testing during my first pregnancy in Canada. She informed me that the scan didn’t include the test.

Shortly after, we sat with the OB who reported that everything in the scan was looking healthy and normal. Her eyes were very kind and communicated the shared sense of thrill that a perfect new life brings. I held my ultrasound photos in one hand- proof that there was, in fact, a little human growing within me! It was all great news and I allowed it to put my unspoken, nearly unconscious concerns to rest. I questioned the absence of the NT testing and the OB suggested that we consider NIPT testing- a relatively new and far more accurate blood test which could be done at any time during my pregnancy. The costs for the test would not likely be covered by our health insurance and I would have to go to Spokane to have it done. I didn’t expect we would opt in, but when I looked up at Russ, who was shifting back and forth with Madeleine in his arms, I saw a look on his face that I’ve come to recognize as a decisive, Spirit-led, decision-making look. He returned his eyes to the Doctor and said, “We would like that test, I think it would be good to know.” Although I was surprised, I agreed wholeheartedly and the test was arranged.

I arrived at Sacred Heart’s Maternal Fetal Medicine clinic on January 4th for a Non-invasive Prenatal Test (NIPT). I was 14 weeks pregnant and only just starting to show evidence of a bump. A friend had come to help me with Madeleine. As we sat in the waiting room, I looked at the other pregnant women and wondered what circumstance had brought them there. My mind wandered into that query and I could only imagine their worse case scenarios. I, on the other hand, expected a one-time visit and confirmation that our little one was developing perfectly- just as Madeleine had.
My first appointment was with a Genetic Counselor named Tanya. She graciously explained the testing, it’s accuracy and then proceeded to educate me about possible chromosomal abnormalities that could be detected. I had sat through this very same spiel with a dear friend, only a couple years prior, and it was like a strange flashback. The graphs and tables of age-related risk for Trisomy 13, 18 and 21(Down Syndrome) were initially intimidating. The fluky possibility that a particular chromosome could triplicate itself, instead of duplicate, seemed so random. When Tanya explained that my risk was less than 1%, I lent into my optimistic nature and saw only the 99.5% chance that my baby would be typical.

Trisomy 21 Karyotype Female - Copy
The blood draw and ultrasound were uneventful- although I love every chance to see my baby swimming and bopping around in my tummy in real time! The Doctor then reviewed the ultrasound with me, assuring me (just as I had expected) that everything looked very normal. I asked him if the back of the neck had been measured and he explained that although I was a few days outside of the ideal range of pregnancy for that test (10-14 weeks), the neck was measuring normally. If there were any reason for doubt on my way into the clinic, it had all evaporated by the time I left. The staff had each been so personable and caring, and yet, I never intended to see them again. I would get the blood test results over the phone in 7-10 days as a final confirmation.
The next week I called Tanya to ask if my results had arrived. She had asked me to prompt her on day 7, so I did. The results weren’t in and she told me to call back the next day, Friday, when the tests would most definitely be back. I wasn’t feeling nervous about the results, so I waited until the latter part of the day to call and ended up leaving voice messages requesting the results. My call was not returned and the day was nearly done, so I knew I wasn’t going to have the results until Monday. Sure enough, on Monday I received a call from Tanya, apologizing for the wait. She said the results still had not arrived and that the delay was usually a precursor for a “non-result”. This would mean I’d have to return to Spokane and have a second blood draw, as not enough genetic material was collected the first time. She was going to follow up with the lab to confirm this was the case, but she told me not to worry…and apologized that I would likely have to drive back to Spokane.

Taking Madeleine and driving back to Spokane in the middle of winter was not on my bucket list for 2018. I didn’t know then, that the following 24 hours would change the rest of my life altogether.

Rachel

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