Lynae feels a wave of nausea at the scent of baking bread drifting from a Subway she passes on her way to the hospital clinic. Still, it’s no match for the excitement she feels from the stirring in her belly. When she arrives at the clinic, she’s met by her husband, Paul. (Lynae and Paul asked that we use only their first names.) They lock hands and sit amid the hum of the waiting room, making bets on their baby’s gender. Lynae, then 34, wants a boy; Paul, then 32, suspects it’s another girl—a sister for their daughter Avery, then 2. Lynae is here for her 20-week ultrasound, the moment when many expectant parents learn the gender of their child. Finally, she’s called.
Lynae lies on the examining table, feeling giddy as the ultrasound technician squeezes jelly onto her swollen belly. Her ears perk up at the thump of a heartbeat. She and Paul have their eyes fixed on the monitor: head, arms, legs, stomach—their first glimpse of their future child.
The sonographer moves down for the reveal. It’s a girl. They look at each other and laugh.
Fifteen minutes into the ultrasound, the technician lingers around the baby’s head.* She’s having trouble getting a measurement and calls for help. The couple exchange reassuring smiles. The second tech enters; she has a stern demeanor and quickly takes over. She asks if they had any preliminary genetic testing. “Of course,” Lynae replies. “Everything was normal.” Panic crawls into Lynae’s chest. The first tech attempts to calm her, saying the hospital does longer ultrasounds these days.
When the exam is over, Lynae, who works as an epidemiologist in the same Indianapolis hospital, retreats to her office upstairs. She greets a coworker, but she’s unable to concentrate. Her phone rings. It’s her ob-gyn; the clinic has phoned her. Lynae bursts into tears. Her fetus has an increased nuchal fold, an excess of fluid on the back of her neck—an abnormality associated with congenital heart disease and a range of serious chromosomal defects.
Lynae’s legs feel like jelly as she tries to stand, so her boss and a coworker escort her to her ob-gyn and set her down on the doctor’s brown leather couch. “Hopefully this is just a shadow,” her doctor offers. Once Lynae calms down, she calls Paul at work. “We don’t know yet,” he will often say to Lynae in the days ahead. “Nothing is wrong, everything is fine.” With each movement she feels in her belly, Lynae wonders if it’s true.
Prenatal screenings are among the most agonizing and anticipated moments of a pregnancy. A clear result means you can rest easy until the next round. A problem sets off a cascade of procedures—some providing clarity and peace, others only perpetuating uncertainty. A pregnant woman typically has routine bloodwork done during her first prenatal visit, which can identify such risks as anemia or diabetes. Many women, due to maternal age or family history, go on to do additional bloodwork between 8 and 13 weeks to screen for genetic disorders. When one of those screens flags an elevated risk, doctors will conduct additional screenings (amniocentesis or chorionic villus sampling, more commonly known as CVS) for Down syndrome, spina bifida, and other serious anomalies.
Still, certain abnormalities can’t be detected until the mid-pregnancy ultrasound, usually performed at 18 to 20 weeks, which reveals details of the fetus’s growth and anatomy. As with genetic screenings, if a problem is found on this ultrasound—as it was for Lynae—a woman is often offered amniocentesis. Results can take up to two weeks. Any positive result from the amnio means a referral to a specialist for further testing, which can take several more weeks to complete.