The Down Syndrome Dilemma

By Claudia Wallis

Sheila and Peter Hebein learned that their first and only child had Down syndrome on the day he was born, in 1972. "I remember kind of stopping breathing," Sheila recalls. Prenatal testing was rare in those days, and because she was only 30, she was not a candidate. "One of the most challenging things about that day is that you're on a great high because you just had a baby," she says. "Then someone comes in and says, 'Yeah, you had a baby, but ... ,' and how they say that but is critical." The Hebeins, who live in Evanston, Ill., will be forever grateful to their pediatrician, Arthur Dechovitz, for the way he delivered that but. "When Chris was born, parents were being told to institutionalize their children. We never had that kind of experience," Sheila says. "The doctor said, 'Here's your baby. Who do you think he looks like? The most important thing is that you love him and you treat him like you would treat any other baby.'" Hebein, who has served as executive director of the National Association for Down Syndrome since 1979, says, "We never had negative input from the beginning, so I think that got us off to a good start."

Thirty-three years later, fewer women are surprised in the delivery room the way Sheila Hebein was. Screening for Down syndrome became a routine part of U.S. prenatal care around 1990. Typically, women are offered a "triple screen" blood test during the second trimester of pregnancy (see chart). The results are entered into a computer along with the mother's age, and the machine spits out her individual risk of carrying a child with Down. If the risk is high--say more than 1 in 300--she will be offered amniocentesis, a needle-in-the-belly test that allows doctors to conclusively diagnose genetic aberrations, including Down, but carries about a 1-in-300 risk of causing miscarriage. If an extra 21st chromosome is found--the hallmark of Down--the woman or couple face a fateful choice: to terminate a pregnancy that has already reached the second trimester, or prepare to raise a child with Down, which causes mild-to-moderate retardation and often other health problems as well. Doctors estimate that 80% to 90% choose the first path.

For years, doctors have hoped to offer women the opportunity to weigh their options earlier. Last week brought good news on that front. A $15 million study, six years in the making and funded by the National Institute of Child Health and Human Development, found that a method of screening women for Down in the first trimester is an even better indicator of risk than second-trimester screening. The aptly named FASTER study (for first- and second- trimester evaluation of risk), published in the New England Journal of Medicine, determined that if done properly, the first-trimester screening detects 87% of fetuses with Down at 11 weeks gestation, while the second-trimester blood screening detects 81% if four substances are screened and only 69% if the more popular triple-screen test is used. Most accurate of all--with a 96% detection rate--is a "fully integrated" calculation that combines both results.

The study will undoubtedly increase demand for the first-trimester test, though it costs $200 to $800 and is not covered by most insurance. More important, it greatly clarifies the range of options for expectant mothers, says lead author Dr. Fergal Malone, chairman of obstetrics and gynecology at the Royal College of Surgeons in Dublin, Ireland. "This is not a one-size-fits-all approach," he says. The first-trimester screening carries a high risk of false positives for older women, so a woman who has struggled for years to get pregnant and wishes to avoid the risks of a follow-up amnio might opt for the fully integrated test, even though that means waiting until the second trimester. For many others, speed is the priority. Dr. Malone hopes the study "will finally do away with the entirely arbitrary idea that women over 35 should be alarmed and have amniocentesis and women under 35 are not at risk." In fact, most babies with Down are born to women under 35, simply because so many more of them are giving birth.

Though doctors greeted the study as a breakthrough, the good news was tinged with irony for parents like the Hebeins. They have raised a child with Down syndrome in an era of opportunity for the disabled and have helped redefine what such children are capable of. Chris Hebein is a remarkable example. Having graduated from a special education school, he has worked full time for the past 12 years as a mail clerk at Rotary International in Evanston. Never late, never absent, Chris Hebein adores his work and takes pride in his ability to sort mail at top speed. "Am I fast or what?" he asks, while flipping envelopes into piles and occasionally jotting a note to keep track of mailing expenses. At home with his parents, he plays his own jazzy piano compositions.

What concerns many Down parents is that the new study will make it easier for women carrying a Down fetus to terminate the pregnancy in the first trimester, when abortions are less risky, both medically and psychologically, and that fewer will even consider having a child like Chris. "Will people open their eyes to the possibilities of these kinds of kids?" asks Patricia Bauer, a former editor at the Washington Post. Her daughter Margaret, 21, has Down, and is, according to her mother, an avid reader, Red Sox fan and downloader of Internet recipes as well as a "source of joy and delight to her family." Says Bauer, who makes a point of saying she is not a churchgoer: "Most of the people who make these decisions don't know an individual who has Down syndrome. They don't know about the advances in recent years."

At the best prenatal clinics, doctors and genetic counselors try to provide a full picture of the rewards and risks of raising a child with this disorder. They refer interested patients to support groups. About half of babies born with Down have heart defects, though thanks to improved treatment, their average expected lifespan has doubled, from 25 in 1983 to 56 today. A higher risk of leukemia, infectious disease and dementia are also in the picture.

"Prenatal counseling and diagnosis are not a search-and-destroy mission," insists Dr. Malone, who has seen many of his patients choose to continue a Down pregnancy. "Most of us would not answer the question, 'Doctor, do you think I should terminate?' It's not for us to decide."

With reporting by Noah Isackson/Evanston, Sora Song/New York