The Non-Diagnosis Diagnosis

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“Did you know about his diagnosis before he was born?” 

This is a common question, and one that doesn’t have a straight-answer. The simple answer, is yes. We had a pretty good idea. 

Luca is our first child, and we went into our 20-week ultrasound fairly naive, so the words “soft-markers for trisomies” completely took us aback. He had two small, fluid-filled cysts near his brain, slightly dilated kidneys, and a thickened nuchal fold. 

The fluid-filled cysts and slightly dilated kidneys can be fairly common and on their own aren’t huge reasons for concern. However, the combination of all three meant our baby could have one of a few trisomies, including Trisomy 21 (Down syndrome). We were given the option to wait until our next ultrasound or see a perinatal specialist. We opted for the latter.

A week later, we were getting another ultrasound and the specialist confirmed the measurements and findings were correct. 

We were presented with all of our options. One option was to get an amniocentesis which is a 100% diagnostic assessment. Another option was a maternal blood test. The results aren’t diagnostic because the blood is not 100% fetal DNA. However, fetal DNA ends up in the maternal blood stream. Our perinatal specialist let us know that the false positive rate for women under 35 (which I was at the time) was 50%.

Although the risks were small with an amnio, Andrew and I weren’t comfortable taking any chance. We opted for the blood draw. And then we waited.

Honestly, because the false positive rate was so high I was prepared for the result to be positive. However, I wasn’t prepared for it to be positive with a percentage attached to it.

I got a phone call in the middle of an organizing session. Based on the nurse’s tone, I knew the outcome.

And then she said, “85% confirmation.”

The next 24-hours were intense.