Choosing Life With Down Syndrome
After prenatal testing shows a fetus is at risk, families are faced with a profound decision. The national abortion debate is making it even harder on them.
eleste Blau’s first pregnancy was smooth from the beginning. She stayed active and kept working at the gelato shop she owns with her family outside of Cleveland. She wasn’t ignoring the pregnancy, exactly—it was planned—but she didn’t think of herself as a very maternal person, and pregnancy seemed like something to endure rather than to enjoy. At her first ultrasound, she was mostly excited to find out whether she was having a boy or a girl. She was 31, relatively young, and it didn’t occur to her that anything could be wrong.
The ultrasound appointment at the Cleveland Clinic took three hours. She only realized that was unusual a few years later, when she was pregnant again and the same process took 30 minutes. Lying on the table, her belly smeared with gel, she started to feel a niggling fear when the technicians weren’t laughing at her and her husband’s jokes. (“And we’re funny!” she said.) Afterward, the doctor asked to speak to them in his office. He was concerned because the baby’s brain ventricles looked enlarged, Blau recalls, and he scheduled her right away for an MRI, a chromosomal blood test, and meetings with a pediatric neurologist and a geneticist.
Initially, the results were reassuring. The MRI looked good, and the geneticist saw no cause for concern. To celebrate, Blau and her husband drove to an Italian restaurant nearby for lunch, an old family spot where her grandparents and parents had gathered countless times over the years. They were in the parking lot when the geneticist called back. In fact, she said, there was an issue: The baby was likely to have Down syndrome. Now they just had to decide what to do.
Down syndrome is the most common chromosomal disorder in America, affecting about 1 in 800 births in recent years. People with the syndrome, also known as trisomy 21, have a range of intellectual disabilities, a higher likelihood of heart problems, and physical markers including small stature, upwardly slanted eyelids, and a distinctive crease across the palm of the hand. Prenatal screening for Down syndrome has been available since the 1970s, but until recently, the only methods were invasive procedures like amniocentesis that carry a risk of spontaneous abortion. All this changed with the advent of a simple blood test—the kind Blau took—that became available in the early 2010s. “Cell-free” DNA screenings analyze traces of fetal DNA that circulate in the mother’s own bloodstream. The test is relatively painless and can be performed weeks earlier in the pregnancy than amniocentesis. And these developments in prenatal testing have already had profound consequences for the debate over abortion.
In many parts of Europe, including the United Kingdom, the termination rate after a prenatal Down syndrome diagnosis is now more than 90 percent. In Iceland, where testing is widespread, “we have basically eradicated, almost, Down syndrome from our society,” one geneticist told CBS last year. In Denmark, where all pregnant women have been offered screening scans since 2004, the disorder is heading for “extinction.” In Ireland, one of the few Western European countries where it is still commonplace to encounter people with disabilities like Down syndrome, citizens voted overwhelmingly on Friday to reverse the country’s strict constitutional restrictions on abortion. Down syndrome had become a contentious element in the public debate. A billboard from the “Save the 8th” campaign, which favored maintaining restrictions, featured a boy with Down syndrome and the tagline, “Abortion discriminates.” One mother of a 10-year-old with Down syndrome told a reporter that she worries her son’s community is “being wiped off the face of the Earth with abortion.” The stakes of this debate are clear: It’s a conversation not just about prenatal testing but about personhood, about whether Down syndrome should be considered a condition or a disease.