New Tests for Down Syndrome Raise Tough Issues

Beth Allard was recovering from labor, waiting for a hospital photographer to capture her newborn son's first day in the world, when a pediatrician walked into her room and told Allard her life was ruined. Allard might have expected as much from a doctor, given what she'd already heard from others in the previous few months: little Ben, who had tested positive in utero for Down syndrome, would be mute and illiterate, they said; he would spend his life hanging off her, drooling. The pediatrician was harsher: "You should consider putting him up for adoption," she said. "You're going to end up divorced. Don't even bother having any other children. Didn't you have the option to terminate?" Finally, the pediatrician left, and Allard resumed her wait for the photographer. He never came.

Ben Allard is now 9, and it's hard to understand why doctors were convinced he would be such a burden. He's a friendly, witty kid who's happily enrolled in third grade at a regular school. He does, says Beth, "all the things they told us he wouldn't be doing, and more." She shudders when she thinks about how wrong the doctors turned out to be: she almost took their advice and ended her pregnancy.

She would not have been alone in that decision. Life with Down syndrome can be very challenging for both parents and kids, and according to studies, 90 percent of women whose fetuses test positive choose to abort. Now, because of a technological advance, pro-life and disability advocates worry those numbers may rise even higher. Currently, Down syndrome is picked up with blood screens and ultrasounds, then confirmed with invasive tests such as amniocentesis and chorionic villus sampling, which insert needles into the uterus and slightly increase the risk of miscarriage. Some women forgo the tests for that reason. Next year, though, new, noninvasive genetic screens that pose no harm to fetuses or mothers may start arriving in doctors' offices. If they become common, they could result in more diagnoses, more abortions, a dwindling Down population and a drop in support for families who carry to term—what Down activist Patricia Bauer has called "the elimination of an entire class of people." Even now, only 5,000 babies are born with the syndrome each year.

As technology has advanced, doctors' education about Down syndrome has lagged behind. Allard's tactless pediatrician gave her an outdated book that used the pejorative term "mongoloid." Many doctors seem unaware that early intervention with speech and occupational therapy, combined with medications or corrective heart surgery, has allowed some children to grow up relatively normally, graduating from high school and holding jobs. In a large 2005 survey, mothers of children with Down syndrome said they had received little or no information about the positive side of the condition. (Families often end up stronger. A 2003 study in the American Journal on Mental Retardation found that healthy siblings are highly empathetic; another study in the same journal this year showed that parents are less likely to divorce.) Doctors were also in the dark. "Even among obstetrics fellows, 45 percent said their training in how to deliver a diagnosis was barely adequate or nonexistent," says Dr. Brian Skotko, a pediatrics resident at Children's Hospital Boston who has studied how doctors tell patients about sensitive diagnoses. In a 2000 study published in Prenatal Testing and Disability Rights, 23 percent of doctors admitted trying to influence mothers' decisions, usually encouraging them to abort.

Until this fall, a bill based on Skotko's research—one calling for doctors to provide "accurate and up-to-date information" about Down syndrome to expectant parents—had been stalled in Congress. The new noninvasive tests "put it on the front burner and turned up the degrees," says Skotko. (So did Sarah Palin's rise; Sen. John McCain became a cosponsor shortly after naming Palin, who had a baby with Down syndrome in April, as his running mate.) The bill passed easily in September. "It was a rare political moment," says Skotko. "The pro-life people believed that women making informed decisions might be more apt to continue their pregnancies. And people who were pro-choice saw the bill as pro-information but not telling doctors what to do." There's no funding for the new law yet, but disability advocates hope it will go into effect around the same time the new genetic tests do.

The Allards are among those supporters. They testified on the bill's behalf, hoping to show lawmakers the kind of life they believed their doctors hadn't told them about. They have a strong marriage, a healthy second son and a great sense of relief that they have their first one. Ben has something good, too—a new pediatrician.