Amnio Yes or No? We found complications, but I still wasn't sure.Amy Wilson
Staying home with a toddler will lead to the longest afternoons of your life. After naptime, you’ve got five hours to fill (best case scenario) until it’s time for night-night, and when it’s been raining for three days straight, you yearn for a little excitement. Something. Anything.
The phone only rarely rang in the afternoon. “Hello?” I panted, since I had been giving Connor horsey rides around the house, and in my second trimester of my second pregnancy, shortness of breath was already in full swing.
“Hi, Amy, it’s Mary? From Dr. Merman’s office?”
Dr. Merman was my obstetrician. Mary had been with me from the very beginning of my journey to motherhood. While still on my odyssey of infertility, I would cry in her waiting room month after month. Mary would take yet more of my blood for yet more tests, chattering away the entire time, allowing me to feel that everything might yet be okay. When my second pregnancy caught me completely by surprise, I called Mary from my bathroom, the EPT still unsanitarily wet in my hand. I hadn’t even told David yet, but Mary knew. Between Mary and me, there was very little to hide.
Now, I stood in my den, hoisting Connor on one hip so he would stop face-diving off the sofa. “I’m calling with the results of your amnio,” Mary said.
“Oh, right,” I said. I had forgotten.
This was my first amniocentesis, ordered only because the results of my prenatal blood work had shown a slightly elevated chance of Down Syndrome. “Let’s just check the box,” Dr. Merman had said. “Let’s know for sure.” A week later, I got the amnio. It was over in a moment, hurting less than a bug bite, and I felt such extreme relief that the procedure had gone well that I had forgotten about the reasons I had had the test in the first place.
Mary said, again, “So I have your results.”
“So, good,” I said. “Are we good?”
She didn’t say anything for a moment.
“You and David need to come in to our office this afternoon,” she said.
I vaguely remember calling my friend Debbie and hijacking our shared babysitter for the afternoon. Then I called David at work. Then I plopped Connor in front of a rerun and got in the shower, because even though it was two in the afternoon, until the phone rang, I hadn’t had anywhere I needed to go. I had to reach up and steady myself against the slippery, wet wall. Just take the shower, I told myself. You know how to do this. I rubbed the soap in circles, moving down my body and reaching my abdomen. Anyone could see there was a baby in there-it was not a secret, not an abstraction. My baby was real, and there was something terribly wrong.
David met me in Dr. Merman’s waiting room, his face gray, his hand cold when he took mine. Mary was uncharacteristically silent, busying herself with the papers on her desk. After a few moments Dr. Merman opened his office door and called us in.
“The results of your amnio show what is called a ‘genetic translocation,'” Dr. Merman began, once we were seated across from him. “Sometimes, as the chromosomes are forming, they break apart. When they rejoin themselves, it may not be in the same place.”
I had forgotten how to breathe. I imagined helixes dangling, stuck to each other like flypaper, tangled beyond repair.
“Now, your baby has what is called a balanced translocation,” Dr. Merman continued, gently. “All the necessary genetic material is present. It’s just not in its usual location.”
“So: what is the problem?” David said. (He would do the talking.)
“There may not be a problem,” Dr. Merman answered. “If one of you has this also, then it’s inherited, and since you’ve made it to healthy adulthood, we can assume that the mutation is inconsequential. But if this is occurring in your baby for the first time, then it becomes a little more complicated. It could be a sign of severe disabilities.”
“How many times have you seen something like this?” David asked. (He wanted the stats; numbers were what he could wrap his head around.)
“Twice before,” Dr. Merman said. “Once it turned out fine.”
We were all silent for a moment.
“We are going to get both of you tested today,” Dr. Merman said, closing the folder. “Even if neither of you has this aberration, there’s still a sixty percent chance that the mutation will cause only developmental disabilities. The baby might be slow learning to walk, or have trouble learning to read.”
“How would we know what kind of disability it would be?” David asked.
“We wouldn’t,” Dr. Merman said. “You would have no way of knowing until the baby was born.”
“But if we think there’s something really wrong with the baby,” David pressed, “what would we be looking at then?”
“In that case, you would want to consider the possibility of terminating,” Dr. Merman admitted, using a euphemism that did not really soften the blow.
I cried quietly while Mary took my blood. I forgot to notice whether it hurt or not. “I’m so sorry,” she whispered.
“It will take ten days to get your test results,” Dr. Merman told us, by way of farewell. “In the meantime, I recommend you seek genetic counseling.”
Instead, David and I went home, sat in front of the television without watching it, and told no one. What was there to say? That there might be some undefined but horrible wrong with the baby we had announced months ago? And that we could not know how really horrible things were for another week?
No option seemed thinkable. How could I consider ending a pregnancy with only a forty percent chance of severe defects? What if I guessed wrong, and the baby might have been fine? On the other hand, what if the baby were born with defects beyond medicine’s capacities? Granted, these questions were the reason genetic counseling existed. But what could be less comforting than discussing a variety of worst-case scenarios we could neither confirm nor deny? David chose to focus on our baby’s sixty percent chance of being healthy. “I’d take three out of five odds in Vegas any day,” he said, which was a good point, even if he didn’t say it with much conviction.
On another quiet afternoon with Connor ten days later, only this one jangling with tension, the phone rang again. “It’s you,” Mary said. “Thank God. You have it too.” We called our parents that night when David came home from work, our deliverance bubbling over. You have no idea, we said, how hard this has been. But there’s no reason to worry! The baby has it, but Amy also has it, and Connor might even have it also, and we’re all fine. My mother-in-law tried to catch up on our ten-day lead of anxiety and release. “Wait. If Connor has it, wouldn’t they have caught it when you were pregnant with him?” she asked.
“Well, no,” I answered, “because I didn’t have an amnio with him.” Huh.
It hadn’t occurred to me until that moment: if I hadn’t had the amniocentesis, all this might have been avoided, since I would never have known to panic over a non-issue in the first place. After all, it seemed that I had had this defect myself while in my own mother’s womb, but she never agonized over it, because she never had the tests. In my case, the amnio had created the crisis.
Having been declared mutation-free, David was punchy with relief, teasing Mary at our next ultrasound. “I bet you hated making that phone call,” he said.
“Oh, Lord Almighty,” Mary replied. “Let me tell you, it was awful. But it’s better to know.”
Really, though, it wasn’t.
A pregnant woman seeks reassurance in her visits to the obstetrician. But these days, she is much more likely to find something to worry about there: only one side of the baby’s umbilical cord is transporting blood, and it might be fine, or it might not. Your baby has a cyst, and it might be benign, and it might not. What cannot be known still far outstrips what can.
Reprinted from When Did I Get Like This? The Screamer, The Worrier, The Dinosaur-Chicken-Nugget Buyer, & Other Mothers I Swore I’d Never Be. Used by permission.