It’s the last patient of the day—isn’t it always?—and she’s here for a first-trimester screen. This is a standard test offered in pregnancy. It’s a noninvasive way to get more information about a fetus’s risk of certain chromosome abnormalities, most commonly Down’s syndrome (also known as Trisomy 21).
The ultrasound tech comes into my office with a long face. “I can’t get a good look,” she says. “But it looks bad. First pregnancy.” We both sigh, because we’re already worried.
I walk into the room, and the patient is holding hands with her husband. They’re quiet when I introduce myself—do they know what’s going on? But I need to look at the fetus before we talk, so I turn off the light and pick up the ultrasound probe.
In the dusky world of the ultrasound screen, the small fetus bounces away from the uterine wall, and I see it: the back of the fetal neck is large, swollen, a sac protruding behind the fetus. It has a small septation within it, dividing it into two compartments.
I print out the picture, put the probe down and ask the patient and her husband to step into my tiny office. There, I say: “I wish I had seen something different today. But this is what I see. I see something abnormal. What I see is an abnormal growth in the neck, called a cystic hygroma. This is important not just because of what it is, but because of what it might signify. A large percentage—more than 60 percent in some studies—of fetuses with this abnormality have a serious chromosomal problem.”
I speak slowly. I stop many times. I show them, on the ultrasound printout, the sac that I’m talking about. I hand them tissues; I ask if they need some time, but they ask me to keep talking. I talk a little bit about the next step, a small invasive procedure called a CVS (chorionic villus sampling), by which we can get some cells from the pregnancy to find out what’s going on. We review the risks and benefits of pursuing that step.
I stop again and ask if they understand, or if they have questions. They do have questions; the patient is very clear that she wants the procedure done, but she doesn’t entirely understand the anatomy I’m talking about. I draw a picture of a belly, a uterus and a needle, and I diagram the CVS procedure on a Post-it note. I’m a terrible artist and I make a little joke of it; the patient gives a tiny smile. She asks the same questions everyone asks: How long does it take? (Under 10 minutes, sometimes under five.) Does it hurt? (Yes, but we give you numbing medicine, which helps.) Does having the procedure increase the risk of miscarriage? (Yes. But the risk is relatively low, I explain, and site-specific. At Montefiore, we think we add only 1/500, or 0.2 percent, risk of pregnancy loss.) I explain that she will rest after the procedure, and that if she feels fine, she’ll go home about 30 to 60 minutes later.
I offer the couple an appointment within 24 hours with the head of reproductive genetics, Dr. Susan Klugman. “She’s happy to squeeze you in tomorrow,” I say, not because this is terribly urgent, but because I don’t want them to suffer too long with the not-knowing.
The couple sits quietly, holding hands, while I make arrangements for the appointment, complete the paperwork and send information to the primary obstetrician. I ask again if they have any further questions, and they don’t. They get up to leave. I give them my card, directions to the genetics appointment and the ultrasound picture that I printed out, what feels like hours ago.
The patient stops, then, and asks: Can I have that? She wants my Post-it note with the drawing of the CVS. Of course! I say, and I hand it over. “You’re not such a great artist, doctor,” she says. “But you’re a nice doctor.”
They leave. It’s time to go home, but I sit there for a few minutes, wishing I had seen something else for them today.