Genetic Testing

How much do we really want to know?

Dana Ultrasound Image_Earliest_Main.jpg

With this pregnancy, my third, I’ve suddenly been slapped with an ominous label: “Of Advanced Maternal Age.” It’s the first time I’ve been pregnant over the age of 35--that alarming number, that line in the sand where all the dire statistics about fertility and birth outcomes suddenly skyrocket.

I was nervous that it would take us a long time to get pregnant this time. I’d heard horror stories from friends who’ve experienced secondary infertility with their second or third babies. So, I was shocked when it happened right away.
But, we’ve already had two perfectly gorgeous, healthy babies. So, I’ve been pretty confident since finding out that I’m pregnant that my 36-year-old body will give us one more. Which is why it was that much more shocking to go for our 12-week nuchal translucency screening (which we declined to do with my last pregnancy, and which I’m not sure was even available yet with my first pregnancy).
The day of the ultrasound, Will and I were led into a tiny closet of a room to meet with a genetics counselor, whom we were told would give us a quick overview of the test before we went in for the ultrasound. When the geneticist sat us down, she immediately began a line of questioning about our family histories, expertly sketching out a pedigree of each of our families, linked together by a little box and a little circle representing Will and me. She marked black X’s wherever there was a case of heart disease, or cancer, or stroke, or miscarriage. With each black mark on our record, I grew increasingly anxious, and more so when I realized that most of the black marks were piling up on my side of the chart. While I’m normally thankful that everyone on Will’s side of the family seems to live to a ripe old age of 85+ years old, I was growing more and more uncomfortable watching the geneticist X out my side of the tree. I couldn’t help but think that Will must be sitting there feeling like he was dipping his toes into the wrong end of the gene pool, so I blurted out, "Didn’t you have that crooked leg thing when you were a baby?" only to feel my face get immediately hot with embarrassment the second it was out of my mouth.
After reviewing our chart, the geneticist recommended a battery of tests to screen for what seemed like every known genetic anomaly and rare disease known to mankind. And when I say “recommended,” what I mean to say is that we walked out of that room feeling like we’d just met with a used car salesman (a very intelligent, knowledgeable one at that), who was trying to push every feature in the world on us, assuring us that “the insurance will pay for it.”
I had gone into the room feeling happy, confident, and relaxed, and walked out—one hour later—more than a bit shaken, and suddenly worried about the potential train wreck of calamities that were apparently lying in wait for our unborn child. The joy I took in seeing our baby on the ultrasound screen for the very first time was, at first, a bit reserved—a bit hesitant—as I kind of held my breath and wondered if everything was OK. But, as it seemed more and more clear that everything actually was OK—that all the baby’s pieces parts were as they should be, and that even our baby’s nuchal fold was perfectly proportioned, despite the curse of my advanced maternal age, I was finally able to breathe a sigh of relief. I laughed at our baby’s antics onscreen ‘til my belly jiggled up and down so much that it kept knocking the picture off the screen, which made me laugh even harder. “Ok, Ok, I’m ready now…” I’d assure the ultrasound technician, only to have another giggling fit that would knock the picture right off the screen.
And, when the ultrasound technician left the room, and a doctor we’d never met before breezed in to announce “You have a beautiful baby!” like some Groucho Marx impersonator, then turned on his heel and left as promptly as he’d entered, Will and I both burst out laughing. Will kept pantomiming a cigar dangling from his mouth, happily muttering, “You have a beeeeooooooteeeeeful baby,” which made us both crack up, and we left the office laughing so hard that tears were pouring down my face.
Join's Managing Editor Dana Rousmaniere each week as she blogs about her third pregnancy.