20-Week Dr Visit: Part 2, The Bad News

(suggestion: read Part 1, the blog below, first)

I unrolled the massive pile of pictures and spread them across Damon and myself so we could both view. We stared in awe at our little girls. Some of the pictures were so incredibly clear that we could make out the little details in their faces! I looked at Damon and he was white. “I feel like I’m going to throw up.” He said. “I know.” I agreed, trying my hardest to remain calm.

Dr. Chang entered the room followed by Julie and introduced himself to us. His tone was very serious and he didn’t waste any time. The ultrasounds revealed an echogenic focus (a white spot) on each of the babies’ hearts. While the echogenic focus alone did not indicate a heart condition, it was a “marker” for Down syndrome. My jaw dropped. I looked at Damon who was staring intently at the floor.

Trying not to jump to conclusions, I asked him what that meant. He told us that there were medical studies that suggested that there was a correlation between finding the echogenic focus on an ultrasound and the baby having a genetic disorder. Once they saw the white spots, they then looked for other markers on the babies, Baby B had no other markers but with the echogenic focus, her chance of having Down syndrome went from 1/760 (based on my age) to 1/420.

Okay I can live with that, I thought… but what about our other little girl. “And Baby A?” we asked…

Baby A had two other markers he told us. Her head to femur (upper leg bone) ratio as well as head to humerus (upper arm bone) was low. With the echogenic focus and these two other markers, her chance of having Down syndrome went up to 1/55.

I stared back at him in shock. Are you serious? We just had this incredible experience of watching our babies interact with one another in the womb, we just learned that we are having two little beautiful girls and you are going to drop this on us? Totally not fair. I don't even want to hear it!

I pushed the emotional part of me down as far as I could which only left room for the logical to emerge. I bombarded him with questions, trying to make sense of what he was telling us. The only thing was that I had a hard time of listening to a word he was saying. I tried my hardest, but my mind was racing and the truth is, I really didn’t want to hear what he was saying.

The next thing I realized, we had been swept into another office and were now sitting across from a Genetic Counselor listening to her spout out facts, medical terminology and numbers. We kept asking questions, trying to make sense of it all.

What does this mean? Does Baby A have Down syndrome? There's a 1 in 55 chance she does. Is that high? It's a 1 in 55 chance. Well, that's like 2% right? Yes. Could it be a false positive? It's a 1 in 55 chance, which is not 100 percent positive.

We had previously declined to take the 18 week blood test (that tested for Downs, Spinal Bifida and a few other genetic disorders) for fear of this very thing. If it was only going to tell us what our babies' risks were and not give us a concrete answer, we didn't want to know. Why put yourself through that worry during your pregnancy? But here we were anyway. Worrying away.

The only way to know for sure, she told us, is to have an amniocentesis (a process where they draw fluid from the amnitic sac and test the babies' DNA for genetic abnormalities). This test would give us a concrete answer, but guess what? There was a 1 in 200 (or so) risk of miscarriage following the test. More numbers...

This is not the way this appointment was supposed to go! This is not the way I had planned my pregnancy to be! We wanted as little medical involvement as possible and now it seemed like we couldn't get away from it!

She was completely factual and rational and I resented her for it. I needed someone to hold me and tell me it was going to be alright. I needed to get out of that office.

Damon and I quickly wrapped up the visit saying we needed to discuss our options and would call her to let her know what we decided.