Celeste Blau holds her daughter, Clementine.
Celeste Blau holds her daughter, Clementine, at their home in Cleveland on May 25. Clementine was born with Down syndrome. Maddie McGarvey/Slate
Family

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.

Celeste 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.

Patrick lifts his daughter, Clementine, at a park as Celeste watches.
Celeste Blau and her husband, Patrick, play with Clementine at a park in Cleveland on May 25. Maddie McGarvey/Slate

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.

In the United States, screening is not as widespread, but about three-quarters of women who do receive a prenatal diagnosis of Down syndrome terminate the pregnancy, according to a survey of recent studies published in 2012. Data suggest that the number of Down syndrome births in the U.S. would be about one-third times higher today if it weren’t for prenatal testing. Though not widely discussed in public, the default assumption in certain milieus is that aborting after a Down syndrome diagnosis is now the natural and obvious thing to do. Introduction to this option is, after all, a primary purpose of prenatal testing. In several recent op-eds in the Washington Post, Ruth Marcus articulated the view of the “silenced majority” of women who would have aborted a fetus with Down syndrome if prenatal tests had come back positive: “That was not the child I wanted. That was not the choice I would have made,” she wrote. “You can call me selfish, or worse, but I am in good company. The evidence is clear that most women confronted with the same unhappy alternative would make the same decision.”

It feels inevitable that Down syndrome would have become a flashpoint in the national abortion debate. And, given the recent inroads made by anti-abortion activists, most of the legal battles are taking place at the state level. Over the past several years, Republican legislators have introduced a series of state laws that would restrict access to abortion in cases of Down syndrome. North Dakota’s legislation went into effect in 2013, and the Pennsylvania House passed a bill in April. Legislators in Illinois, Kentucky, and Utah have debated similar bills this year. In January, a Utah state representative called her bill “Utah’s message to the world that we will not tolerate discrimination.” In Ohio, where Blau lives, governor and 2020 presidential hopeful John Kasich signed a law in December that would criminalize the procedure in cases where the doctor knows that the patient believes the fetus has Down syndrome.

Ohio’s law would make it a felony for a doctor to perform an abortion if he has reason to believe that the woman is seeking the procedure “in whole or in part” because the woman believes the fetus has Down syndrome. It “would be the most extreme abortion ban in the country,” said Gabriel Mann, communications manager for NARAL Pro-Choice Ohio, “because it could be applied in every single case just based on the thoughts of the patient.” Theoretically, he said, a patient could be issued a subpoena to testify in court about her reasons for seeking the procedure. In Blau’s case, such legislation would have made it essentially impossible to get an abortion after getting the results from the geneticist—simply because of what she now knew.

Clementine holds onto Celeste’s leg.
Clementine holds onto her mom at a park in Cleveland on May 25. Maddie McGarvey/Slate

From the perspective of the Down syndrome community, a diagnosis should be the start, not the end, of a family’s understanding of what life is like with trisomy 21—whether termination is being considered or not. The community is diverse, with the usual spectrum of political and religious views on abortion. Many Down syndrome parent groups have gone out of their way to avoid taking a stance on anti-abortion legislation like Ohio’s because the bills are so divisive. Other parents are alarmed at the prospect of not being able to decide the fate of a pregnancy for themselves. It’s understandable that a parent of a child with Down syndrome might feel that the opportunity to abort makes it more likely that people would miss out on an experience they have found deeply rewarding. It’s also easy to be firmly pro-choice, and also unsettled by the termination numbers and the language of eradication. And then there are parents who didn’t receive a Down syndrome diagnosis until their children were born and must quietly grapple with the question of what they would have done had they known earlier.

Sitting in the car outside the Italian restaurant in Cleveland, Blau felt as though the wind had been knocked out of her. Eventually, she and her husband went inside, where they ate almost in silence and then drove home. She remembers her initial fears, which she feels guilty about now: Would they ever travel again? Was she “wasting” a good name on this baby? Would the little girl be cute? Another thought flickered at the edge of her mind: “You don’t have to go through with this.”

Blau’s screening came relatively late, around 20 weeks. She hardly received any concrete information from the hospital about Down syndrome, she recalls. But she read a guidebook about parenting a baby with the disorder, and that helped. A teenage family friend had Down syndrome, so she was vaguely aware of what her daughter might be capable of. It surprised her husband, who she says never wanted to consider abortion, to find out that their daughter would likely be able to read, for example. (“I don’t know that they’re reading the Iliad or Anna Karenina, but I’m not either,” she said.) The hospital assigned the couple a support person to help them navigate the system, and she gave them a printout of a short inspirational essay written in 1987 by the mother of a child with Down syndrome. The popular essay compares preparing for a baby to preparing for a trip to Italy. After months of anticipation, you land, and the flight attendant announces: “Welcome to Holland.” It’s not worse, the essay concludes. It’s just different.

For many people in the Down syndrome community, the problem is not that abortion is available. Rather, it’s that prospective parents are given such paltry, dour, and often inaccurate information at the point of diagnosis, whether that happens prenatally or at birth—information that should be available to anyone regardless of their abortion views. “We’ve found that families who have a really traumatic diagnosis experience, it takes them longer to come to a place of acceptance,” said Heather Bradley, the president of the board of the Down Syndrome Diagnosis Network, a nonprofit that provides support and information to parents. She counseled one family in 2011 who received an informational booklet from the 1980s using the outdated slur mongoloid, and another shaken recently when a nurse attending the birth cried and said, “Your baby has ‘the Down’s,’ ” also an outdated and offensive term.

More frequently, parents who get a diagnosis of Down syndrome receive no information about local support groups and social services, and hear no voices of parents who can share experiences of life with a disabled child. Many parents report feeling badgered into getting an abortion and judged if they decline to do so. Yami Johnson, a Brooklyn mother grappling with a prenatal diagnosis last year, said one doctor sat down with her and her husband and asked them how many children they already had. “Is this the legacy you want to leave them?” Johnson recalled the doctor asking. “You’re not going to live forever.” (She gave birth to her son, Noah, in January.)

Celeste Blau sits on the couch holding her son Finneas while playing with Clementine.
Celeste Blau holds her son, Finneas, while playing with Clementine in their home in Cleveland on May 25.* Maddie McGarvey/Slate

Even in the best of circumstances, the conversation is a high-wire act for doctors, especially with early tests that indicate a likelihood but no certainty. “Calling someone is really complicated because I don’t have a diagnosis, I have a tiny grenade in my hand and we have to decide what do next,” said Chavi Eve Karkowsky, a maternal-fetal medicine specialist (and occasional Slate contributor). As the diagnosis unfolds, the doctor may have to address complex medical prognoses, cultural values, family dynamics, further testing, and sometimes even the mathematics of probability with a woman who may still be in shock or denial. Early blood tests are nondiagnostic and reveal only a fetus’s probability of various disorders; the results can be confusing for almost anyone. “It becomes hard to give people useful information,” Karkowsky said. “It often becomes a conversation about, ‘How worried should I be? What would you do?’ ” The doctor must also make clear that decisions about termination must happen within a specific, often narrow, window of time in order to be legal—and attempt to do so without pressuring the woman into choosing that course.

Some disability activists have promoted another kind of legislation that could affect women’s decisions in the wake of a prenatal diagnosis: “Pro-information” laws require doctors and genetic counselors to provide what advocates call a more “balanced” portrait of the disability at the point of diagnosis. Some pro-information advocates believe that if they could just give prospective parents a true picture of life with a Down syndrome child, more women would choose to go forward with their pregnancies. In many ways, they argue, there has never been a better time in history to have Down syndrome, or to have a child with the condition. The life expectancy of a baby born with Down syndrome is almost 60 today, compared with 12 in 1949, and children are regularly incorporated into mainstream classrooms. Cultural visibility is now high, too, between the 2018 Gerber baby, the A&E reality show Born This Way, and American Idol.

Since 2012, about 20 states have passed laws that require or encourage medical providers to supply patients with approved fact sheets and contact information for local support services. The legislation has historically garnered unified support from pro-life, pro-choice, and disability-rights groups. But the rise of anti-abortion bills like Ohio’s has slowed the progress of the pro-information movement over the past few years.

The Ohio law, needless to say, would not have helped Blau get the guidance and context she missed out on. She knows many parents who got information from their doctors that was far more blatantly inaccurate than what she received, and she supports measures that would correct that. “You shouldn’t be hearing from your doctors that your kid’s not going to walk and talk,” she said. She wonders if some activists who favor anti-choice legislation over pro-information laws aren’t very familiar with Down syndrome themselves. “They’re worried that if the doctor shares facts, it would push [the woman] to abortion,” she said. “But I feel like if people had facts, they would realize it’s not that big of a deal.”

Pro-information federal legislation passed in 2008, but many advocates have found that law disappointingly toothless, since it provided no funding for new materials. And the new state laws have splintered the fragile alliance between the disability-rights and pro-life communities, as the latter have focused their energy on prohibition rather than persuasion.

In other words, today’s pro-life legislators and activists are now bent on effectively removing choice after a prenatal diagnosis, rather than on influencing that choice. “We were making strides on the pro-information movement on a bipartisan basis, and the anti-choice movement decided to make it partisan,” said David Perry, a progressive writer and the father of an 11-year-old with the condition. “The pro-information movement, as near as I can tell, is dead.”

The shift from pro-information to anti-abortion has happened partly because disability-rights activists have less political power than the pro-life movement. They also have the more complicated argument to make: that bodily autonomy and justice for the disabled are inextricably intertwined—even if the right to choose abortion might appear on the surface to be at cross-purposes with disability advocacy. “We don’t have a good pro-choice, anti-eugenic rhetoric in this country,” Perry said. “People like me … have to find a way of talking about this.”

Of course, mandating “information” would not be a magic fix for an extremely knotty issue. Arthur Caplan, a bioethicist who has been tracking the impact of prenatal genetic testing since the early 2010s, doesn’t believe that the information delivered along with a prenatal diagnosis can really reverse the obvious trend line toward earlier and easier identification of an ever-widening spectrum of conditions, from cleft palates and cystic fibrosis to, perhaps someday, autism. Pro-information legislation wouldn’t “get far in knocking down the high termination rate,” he said. “And more tests are coming.”

Some also say the pro-information approach violates the core norm of neutrality in the field of genetic counseling. “It’s hard to describe how big the burden of history is for genetics,” Caplan said. This is science, after all, that has been used to promote involuntary sterilizations, bans on interracial marriages, and Nazi eugenics. “People in the [Down syndrome parent] community like to say geneticists are not our friends,” said Holly Christensen, a parenting columnist for the Akron Beacon Journal and the mother of a 5-year-old girl with Down syndrome. She herself opted for a second-trimester screening method that came back with inconclusive results; her daughter was diagnosed after birth. While she has written critically about the Ohio abortion ban, she also remains wary of what might happen the more we’re able to find out about a baby’s characteristics before it comes to term. “As a society,” she said, “we’re starting to really have a conversation about what it means to be human.”

Clementine sits on her mom’s lap on the porch at their home.
Clementine sits with her mom at their home in Cleveland on May 25. Maddie McGarvey/Slate

But for many in the disability community, it’s also hard not to feel troubled by the direction in which legislators are pushing this debate. Banning selective abortion would do nothing to ease the bias that leads to the selective abortion—and could even reinforce it. Because many of the anti-abortion state laws punish doctors who can be proven to know their patient’s mindset, it’s not farfetched to imagine that these laws could actively discourage doctors from sharing information—effectively letting women believe that the outcome for children with Down syndrome is even more dire than it is. With the strict anti-abortion bills, “the underlying assumption is that unless people are legally prohibited from aborting fetuses [with] disabilities, they will inevitably do so,” said Shain Neumeier, an autistic activist and attorney in Massachusetts who has argued that the disability-rights community must be pro-choice. “Unstated is the idea that people will always have these biases, and there’s nothing you can do about it short of legal force.”

Celeste Blau gave birth to her daughter, Clementine, on May 22, 2016. The end of the pregnancy was as smooth as the beginning, though Blau couldn’t wait for it to end: “Let’s meet her and get started on this,” she recalls thinking. Clementine is a little behind her peers developmentally, but she has none of the major health problems often associated with Down syndrome, and at 2 years of age, she seems to be on the verge of walking. Blau’s mother retired when Blau was pregnant, and these days she watches the toddler and her infant brother, Finneas, at the gelato shop where Blau works. Blau also has support from a center for Down syndrome families that recently opened near her home and a tightknit online group she met through the Down Syndrome Diagnosis Network.

Blau believes abortion is a personal choice. But she says she wants to “puke” when she thinks about how abortion crossed her mind after the diagnosis. She knows mothers who admit they would have terminated if they had received a diagnosis in time, and now they say they’re glad they didn’t. She thought about getting tested with her second pregnancy just out of curiosity, but when she found out it wasn’t covered by her insurance, she moved on.

Recently, Blau and her husband made plans to go back to the Italian restaurant where they first got the news about Clementine’s screening results. The whole family is coming, she said, this time to celebrate the birth of her son. “We’re happy,” she said. “Our life is really good.”

Correction, May 31, 2018: Due to a production error, a photo caption misidentified Celeste Blau’s son, Finneas, as Noah.