By Daniel Allott & George Neumayr
Until recently, if a pregnant woman wanted to determine the genetic health of her baby, she had to endure a series of crude and invasive tests. Early in her second trimester, she would be given a blood test called the triple screen, which measures levels of three hormones in her bloodstream. The results of that test, combined with other factors such as the mother’s age, weight, and ethnicity as well as information gleaned from a high-definition ultrasound, provided a clue to whether her baby was at risk of having a chromosomal disorder (such as Down syndrome) or a neural tube defect (such as spina bifida—shown in the image to the left—or anencephaly). If the fetus was found to have an elevated risk, the woman would be offered a diagnostic test, either chorionic villus sampling (CVS), at 12 to 14 weeks, or amniocentesis, at about 18 weeks.
Both tests are extremely uncomfortable, not to mention risky. Because they require the extraction of fetal cells present in the placental tissue and in the fluid in the amniotic sac surrounding the fetus, a needle needed to be inserted, either through the woman’s abdomen or up her vaginal canal. The procedures carry a risk of infection and an approximately 1 percent risk of miscarriage.
Further, since amniocentesis and CVS are administered so late in pregnancy, they often placed a mother in a critical moment of decision right around the time her fetus might be able to survive outside the womb. “By the time you got the diagnostic results, you were probably pushing up to 20 weeks,” says Arthur Caplan, head of bioethics at New York University Langone Medical Center, “and you were almost edging over viability by the time you were having a discussion about what you found.”
Given these factors, it’s not surprising that only about 2 percent of pregnant women undergo prenatal genetic screening and diagnosis.
But those days are coming to an end. The ultimate objective of prenatal genetic testing is definitive noninvasive diagnosis, and advances in technology place us on the verge of attaining that goal. Experts in genetics and bioethics we interviewed variously referred to this new technology as “an enormous breakthrough,” a “godsend,” a “revolution,” a “perfect storm” and a “game-changer” that could put us “in an entirely different universe.” Nobody knows exactly what that universe will look like. But one thing is increasingly clear: It promises to be very inhospitable to unborn babies with disabilities.
SCIENTISTS’ UNDERSTANDING of the roots of genetic diseases has grown dramatically since the mapping of the human genome a decade ago, and so has diagnostic technology. First came the discovery that pregnant women’s blood contains small amounts of fetal DNA. In the last two years, scientists have developed a method for examining this “cell-free” DNA in order to identify a host of conditions. The new technique—called NIPT (non-invasive prenatal testing)—is superior to the old invasive tests in a number of ways. For one thing, it’s noninvasive. Since it’s a simple blood test, the woman’s uterus remains untouched, so there’s no risk of miscarriage. And the test can be done as early as nine weeks into gestation, which is an especially attractive feature for women who would consider abortion. That threshold could drop to as little as five weeks. While at present NIPT can test for chromosomal disorders only, it will soon be able to detect many more conditions—including single-gene diseases such as Tay Sachs and cystic fibrosis. It is also likely that NIPT will soon be able to detect risk factors for DNA-based diseases that develop later in life, such as breast cancer and Alzheimer’s, as well as hundreds or even thousands of non-disease characteristics, including personality traits.
Medical groups currently recommend that NIPT be used only as a screening test for high-risk women, and that women follow up positive screens with diagnostic tests such as amniocentesis. But if NIPT proves as accurate as early clinical trials suggest, it will almost certainly replace the old tests entirely. “Most in the field believe it will be diagnostic in 5 to 10 years, or earlier,” says Hank Greely, a law professor and bioethicist at Stanford Law School. “That’s a revolution.” Soon, Greely believes, with a simple blood test, “We’ll be able to know as much about a 10-week-old fetus as we know about anyone.” Four firms currently offer NIPT. In March, one of them, Natera, launched Panorama, a test that purports to be able to identify more chromosomal abnormalities with greater accurately than any other non-invasive prenatal test. Tens of thousands of women have already used it. Caplan, the NYU bioethicist, predicts that it will become a routine obstetrical procedure within three years. “I think very quickly it will be offered to every pregnant woman because it’s so noninvasive,” he said, “if for no other reason than hordes of malpractice attorneys will be running around saying ‘offer that or we’re going to sue you.’”
NIPT boasts another attractive feature: Women won’t have to pay for it. Sequenom, which markets a prenatal test called MaterniT21 Plus, claims that 15 percent of Americans already have insurance plans that cover the test. And new insurers regular announce their willingness pay for it. Experts also suggest it will eventually be universally covered by Medicaid, which is the largest payer of maternity related services in the country. Most states’ Medicaid programs already cover such prenatal genetic screening, and some states even provide funding for abortion in cases of fetal abnormality.
Academic studies show that even under the old regime of invasive prenatal testing, many women aborted disabled babies. A 2012 synthesis of 17 international studies estimated that once prenatal diagnosis is made, anencephaly has an abortion rate of 83 percent and spina bifida of 63 percent. An earlier review of 20 academic studies found abortion rates of nearly 100 percent for spina bifida and anencephaly, 74 percent for Turner syndrome (a chromosomal disorder), and 92 percent for Down syndrome.
Down syndrome is the most common chromosomal abnormality, occurring in 1 in 691 births in the U.S. But, owing to prenatal testing, births of babies with Down syndrome are much less common than they used to be. A British study found that the number dropped 21 percent between 1989 and 2003. And a 2012 Danish study showed that the introduction of a national prenatal screening program halved the number of babies born with Down syndrome. Keep in mind, these declines occurred even as more women began to delay childbirth past age 35, after which women are appreciably more likely to conceive a child with Down. (The British study estimated that the number of women conceiving children with Down grew 51 percent.)
Declines in the U.S. have been less severe but no less astonishing. In 2004, researchers estimated that in the absence of prenatal diagnosis and abortion, Down syndrome births would have increased 56 percent between 1989 and 2001. Instead, they decreased by 7.8 percent.
These numbers are staggering. But the bigger story is the precipitous decline that’s about to take place.
A recent study estimated that two-thirds of pregnant California women who were offered a noninvasive screening opted to take it. If that fraction holds true across a broad population—about 4 million American mothers give birth each year—then once NIPT becomes widely accepted and available, the number of fetal genetic diagnostic tests performed annually in the U.S. will rise from 100,000 to about 2.6 million.
Mark Bradford, president of the Jerome Lejeune Society, which advocates on behalf of people with Down syndrome, says that NIPT foreshadows a future “bleak for children prenatally diagnosed with Down syndrome or some other chromosomal abnormalities.” NIPT could stamp out some DNA-based conditions almost entirely. Denmark has had a national prenatal screening program since 2004 that, according to the Copenhagen Post, could make it “a country without a single citizen with Down’s [sic] syndrome in the not too distant future.”
It’s not a leap to think that before too long—Caplan believes perhaps another decade—babies with disabilities won’t be the only ones targeted. “We’ll start to see people aborting based on musical ability or mathematical ability, disposition to depression, narcissism, gender orientation,” he says. “We may all think that parents and society are very interested in diseases. But I’m here to say that they’re also very interested in personality and behavior.”
EUGENICS IS THE IDEA that selective breeding can improve the human race, that the so-called “unfit” can and should be bred out of existence or eliminated. Charles Darwin’s half-cousin Francis Galton introduced the term eugenics in the 1880s. “What nature does blindly, slowly, and ruthlessly,” he wrote, “man may do providently, quickly, and kindly.”
It’s also a term that’s hard to avoid when thinking about advances like NIPT. Understanding the implications of NIPT requires an appreciation of the cultural, legal, and political changes that are driving demand for the new technology.
Support for eugenic abortion pervades the culture of elite opinion-makers. “It does not seem quite wise to increase any further draining of limited resources by increasing the number of children with impairments,” Princeton professor Peter Singer has argued—a once-outré view now held by many academics, journalists, judges, politicians, and doctors. “It would be morally wrong to choose to have a child with disability,” British professor John Harris told the BBC in 2012. According to Danish psychologist Helmuth Nyborg, “the 15 to 20 percent of those at the lower levels of society—those who are not able to manage even the simplest tasks and often not their children—should be dissuaded from having children.” Bob Edwards, the embryologist who created the first test-tube baby through in vitro fertilization, argued in 1999 that eugenic abortion is not only a right but a duty: “Soon it will be a sin for parents to have a child that carries the heavy burden of genetic disease. We are entering a world where we have to consider the quality of our children.”
When the Today Show in 2012 tackled the subject of prenatal testing, NBC’s chief medical editor, Nancy Snyderman, nonchalantly called the embrace of eugenic abortion “pro-science” and thought it a “great way to prevent diseases.” She added that prenatal testing “gives parents a chance to decide whether they’re going to continue that pregnancy or not. This is the science of today. It is running fast into the future.” Washington Post columnist Melinda Henneberger has noted that Planned Parenthood founder Margaret Sanger’s view—“More children from the fit, less from the unfit”—is widely held by members of the cultural elite. Henneberger wrote that this new form of eugenics is seen by them as not only “ethically superior to the bad old days of forced sterilizations—this time, it’s optional—but perhaps even morally required. I certainly have friends who see it that way: Wouldn’t we be negligent, one of them reasoned, not to lay the best possible foundation for the health, intelligence, and blue-eyed enjoyment of our children?”
These opinions are far from passé among judges. In 2009, Supreme Court Justice Ruth Bader Ginsburg opined in an interview with the New York Times that one of the rationales for the Roe v. Wade ruling was to promote eugenic abortion. “Frankly I had thought that at the time Roe was decided, there was concern about population growth and particularly growth in populations that we don’t want to have too many of,” she said. In 2012, a Massachusetts probate judge ordered that a Catholic 32-year-old woman (known simply as “Mary Moe”), who was deemed mentally ill by the state, be forced into an abortion even if it meant that she be “coaxed, bribed or even enticed by a ruse.” The judge also directed the abortionist to sterilize the woman without her permission. According to court documents, the judge stated that “if Moe were competent, she would not choose to be delusional and therefore would opt for an abortion in order to benefit from medication that otherwise could not be administered due to its effect on the fetus.” The decision was overturned by the Massachusetts appeals court.
The medical community has long fostered the culture of eugenic abortion. Benjamin Carson, the pediatric neurosurgeon whose appearance alongside President Obama at the National Prayer Breakfast earlier this year sparked headlines, has noted the attitude amongst his colleagues and lamented its corrupting power over anxious couples. “Almost all women in this nation now receive ultrasounds during the course of their pregnancy and you know, a number of things can be picked up on those ultrasounds, one of which is hydrocephalus,” Carson said in 2006. “And almost uniformly, when there is an indication of hydrocephalus a recommendation for termination is made.” Of patients who reject this automatic advice, he said “a significant number…end up with children who are normal.”
In his book Life, Liberty and the Defense of Dignity, bioethicist Leon Kass wrote that “at my own university, a physician making rounds with medical students stood over the bed of an intelligent, otherwise normal ten-year-old boy with spina bifida. ‘Were he to have been conceived today,’ the physician casually informed his entourage, ‘he would have been aborted.’”
Reflexive support for the tools of eugenic abortion isn’t restricted to the members of the political, medical, and scientific elite, however. The general public increasingly approves of it, too. A 2012 poll found that, by a two-to-one margin, Americans support the use of prenatal testing as well as insurance companies’ duty to cover it. A 2011 Gallup poll found majority support for legal abortion when there is evidence that the baby “may be” physically or mentally impaired. And a 2006 poll found that 70 percent of Americans believe a woman has a right to abortion if a “serious defect” in the baby is found.
“People are going to the doctor and saying, ‘I don’t want to have a handicapped child, what can you do for me?’” Charles Strom, medical director of Quest Diagnostics, a company that sells prenatal genetic tests, has told the New York Times. As Tufts genetic scientist Diana Bianchi told Kaiser Health News about NIPT, “I don’t think anybody really anticipated that the consumers would drive [demand for NIPT) as much as they’re doing.”
As you read this, there are lawyers waiting in the wings to swoop down and file “wrongful birth” lawsuits against doctors
who fail to flag defects in an unborn child. Physicians can be sued and forced to pay for the estimated lifetime costs of raising and caring for the disabled child.
A majority of states now allow such suits. Last year a jury awarded an Oregon couple almost $3 million after their child was born with Down syndrome despite the fact that a prenatal test had come back negative. In 2010, a jury awarded a Florida couple $4.5 million after a doctor failed to identify their child’s missing limbs in an ultrasound. Such parents will often note that they “dearly love” the child whom they would have aborted had the doctors just given them the right information. In some states, the surviving tot can even file a “wrongful life” lawsuit.
WHILE THERE IS broad public support for NIPT, numerous polls have shown that the public is also concerned that it will foster discrimination against people with disabilities, and that women might be bullied into undergoing the test. Much depends on whether and how informed consent is obtained.
“I think there’s a growing sense that informed consent is nice and necessary, but it’s largely illusory in practice,” says Maxwell Mehlman, a law and bioethics professor at Case Western Reserve University. “People don’t understand as much as you hope they do.”
Greely, the Stanford bioethicist, has written, “If NIPT requires just one more tube of blood from the mother—and just one more signature on one more form—how can we ensure that parents understand what they are consenting to? Already some who get results of blood-based screening tests for the risk of Down syndrome are shocked to learn they ever agreed to the test.”
The question then becomes: Who’s going to talk to women about the test results? The assumption is that genetic counselors will guide women with affected pregnancies. But if current estimates are correct and the number of women tested skyrockets into the millions, there simply won’t be enough genetic counselors to go around.
A bigger problem is that the information genetic counselors convey is often biased or incomplete. Surveys of medical school deans and residency directors show clinical training regarding people with disabilities is not a priority. A 2008 survey of American College of Obstetrics and Gynecologists fellows found that only 36 percent felt “well-qualified” to do prenatal genetic counseling. Brian Skotko, a board-certified medical geneticist and co-director of the Down Syndrome Program at Massachusetts General Hospital, conducted a study of 141 mothers who had received a definitive prenatal diagnosis of Down syndrome. According to Skotko, most said that “doctors did not tell them about the positive potential of people with Down syndrome nor did they feel like they received enough up-to-date information or contact information for parent support groups.”
None of this is surprising given the growing utilitarian emphasis in medicine. One survey of 499 physicians who deliver prenatal diagnoses found that only 63 percent said they “tried to be as unbiased as possible when delivering a prenatal diagnosis.” One in 10 even admitted to actively urging women to abort. A Hastings Center survey found that 80 percent of genetics professionals polled said they personally would abort a pregnancy involving Down syndrome.
Further, studies suggest pregnant women often defer to their doctors when they receive a diagnosis. An offer of testing can be interpreted by patients as a recommendation. In one German study, 25 percent of women stated that they opted for prenatal diagnosis because their physician wanted it; 36 percent thought that it was an almost mandatory part of routine maternal care; and 16 percent had either not given consent for the test or could not remember giving consent.
Complicating the question, and potentially exacerbating the new push for eugenic abortion, is the prospect of direct-to-consumer (DTC) prenatal genetic tests. These are tests that can be picked-up at CVS or Walgreens, or ordered on-line. The Food and Drug Administration (FDA) is grappling with how much to regulate DTC tests, which as medical devices must undergo federal scrutiny. An FDA spokeswoman says that though the agency is providing guidance to DTC companies, it hasn’t yet cleared any tests to be sold in pharmacies or online. But some experts are skepticical about the FDA’s ability to regulate what, according to one estimate, will become a $1.6 billion industry by 2017.
“If you’re looking to [government] regulation to handle prenatal genetic testing, don’t sleep so well at night,” Caplan said. “Like it or not, I think the pressure to use it, the pressure to sell it, the pressure to apply it—both from government and from business—is going to be pretty strong. It’s already strong. It’s going to get stronger.”
THE CULTURE OF eugenic abortion will have implications for the living disabled too. It is likely to lead to fewer resources and less institutional support for people with genetic conditions. Research and drug companies might turn their attention away from disabilities they expect will be wiped out by prenatal diagnosis and abortion. Federal financing of Down syndrome research has plummeted in recent years. As Down syndrome researcher Alberto Costa said to the New York Times in 2011, “The geneticists expect Down syndrome to disappear, so why fund treatments?”
It is strange to contemplate a world with many fewer people with disabilities. After all, people with disabilities have more opportunities to live long, healthy, fulfilling lives than ever before. Every week seems to provide a new heart-warming story of a high-school girl with Down syndrome voted prom queen or a boy with autism getting a chance to play on his varsity basketball team. And any public mention of the “r-word” elicits roars of protest. But deep prejudice exists and is often rooted in conceptions about what it means to live with a disability. The assumption is that people with disabilities inevitably lead unhappy lives and overburden their families and society—in short, that their lives are not worth living.
A 2007 study of Dutch women who aborted pregnancies of babies with Down syndrome found that 92 percent felt their child would not be able to function independently. Eighty-three percent said the burden of raising such a child would be too heavy, and 73 percent cited the burden on their other children.
But people with disabilities, and those who spend time with them, tell a much different story. It is a story that “has changed dramatically in the last 40 years,” says Ellen Clayton of the Center for Biomedical Ethics and Society at Vanderbilt University. In a generation, advances in health care have extended the average life expectancy of people with Down syndrome from 25 years to 50. Educators have made significant gains teaching people with disabilities the skills they need to live and work independently. In a survey of 284 people with Down syndrome, Skotko found that 99 percent felt happy with their lives, 97 percent liked who they were and 86 percent said they could make friends easily. Only 4 percent expressed sadness about their lives.
And there’s growing evidence that people with disabilities provide something unique and meaningful to those they encounter. Numerous studies have shown that children with disabilities help cultivate the virtues of kindness, patience, and empathy in family members and friends. In a national survey of caregivers, more than two thirds said they found their role rewarding. In 2011, Skotko released the results of two polls showing that the vast majority of parents and siblings of people with Down syndrome loved and had positive feelings for their child/sibling, and that they overwhelmingly felt they were better people because of them.
It’s worth pointing out that prenatal genetic testing can be used for good as well as for ill. By detecting abnormalities early in the pregnancy, testing allows mothers to choose medical facilities with the necessary resources to perform their deliveries. It can also give parents time to prepare psychologically for the birth of a child they may not have expected. But diagnosis and subsequent abortion does not prevent disability. It prevents the birth of a person with a disability.
Some experts go so far as to say that NIPT will “change the way we think about having kids.” Precisely how it does so may ultimately depend on society’s response to a simple question: Is the world really better off without people with disabilities?
Heather Taylor is the Family Coordinator at Hopscotch Adoptions, an adoption agency with a special program for adopting international children with Down syndrome. Taylor said her 3-year-old daughter, Ava, isn’t defined by having Down syndrome. “Yes, she does have an extra chromosome,” Taylor said, “but first and foremost she is a child—a whole, complete person who deserves the same respect as any child.”