The Next City
June 21, 1996
Prenatal diagnosis has brought us to the brink of a brave new world
THE PREGNANT WOMAN IS WIDE-EYED WITH BEWILDERMENT. Her husband stands behind her, his hands gripping the back of her chair, his face blank with amazement. Across a desk, their doctor faces them and announces: “The good news is, you are having a healthy baby girl. The bad news is, she’s a congenital liar.”
When I describe this cartoon from a recent issue of the New Yorker, my friends laugh. They get it. Though they may not be following developments closely, they know that medical science is making gigantic strides in genetic research. They know that these advances are raising complex ethical questions. They see the hopeless conundrum faced by the hapless cartoon couple. What on earth do prospective parents do with the knowledge they have just received? What good is it to know that your child will be a hopeless liar? The cartoon makes us laugh because, like all good jokes, it mixes hyperbole with an element of truth. Prenatal testing can, indeed, determine the sex of the fetus; and it can detect such congenital conditions as Down’s syndrome, Tay Sachs disease, Huntington’s chorea, cystic fibrosis and many others. Many of us are aware that scientists have already found genetic markers for alcoholism, breast cancer, obesity and Alzheimer’s disease, but the idea that we may soon be able to predict with certainty whether a child will be tall or greedy, pigeon-toed or shy, jug-eared or generous still seems far-fetched — as far-fetched as landing a man on the moon or splitting the atom must have once seemed.
The question is, once you know how to split the atom, what do you do with that knowledge? An earlier generation of politicians and scientists built the atomic bomb. How will our generation make use of the remarkable knowledge that genetic research is yielding? It is only a small leap from mapping the human gene to using that map to engineer human beings. Most of us are aware that the brave new world envisioned by the eugenics movement in the 1920s and 1930s culminated in the horrors of Hitler’s Germany. History has taught us well. Such a thing could never happen again. Or could it?
The dilemmas posed by the new genetic technologies are nowhere more agonizing than for prospective parents who are increasingly faced with a bewildering range of opportunities and choices as they contemplate doing what used to be the most natural thing in the world, and who may soon find themselves (you can laugh if you like, but this is no joke) having to decide what to do about that little liar before she is born.
The perils of prenatal diagnosis
LOUISE LEBLANC THOUGHT LONG AND HARD BEFORE deciding to conceive her third child. Four years ago, at age 39, she and her husband, Paul, already had two sons and two thriving, hectic careers. But the desire for one more baby, this one a girl, perhaps, won the day. So, sleepless nights and stretch marks notwithstanding, Louise and Paul started their new baby.
Because of her age, doctors urged Louise to undergo amniocentesis. They told her she had a 1-in-65 chance of having a baby with a genetic abnormality. (Her chances of having a Down’s syndrome baby were 1 in 129). The procedure, which is performed between the 15th and 18th week of pregnancy, uses a needle to withdraw a small amount of amniotic fluid surrounding the fetus and testing it for genetic abnormalities. Children with Down’s syndrome are mentally retarded, but the severity of the condition varies. A positive test result does not predict the degree of the disability. Indeed, only three per cent of Down’s syndrome babies are profoundly retarded. Their life expectancy is now 55; many live independent lives.
Because Paul is a devout Catholic, abortion was out of the question. The couple was also unwilling to accept the risk associated with amniocentesis — 1 in 200 women miscarry afterwards. Louise refused the test. “I have seen so many happy families with Down’s syndrome babies that I was prepared to take the chance,” she told me. But she was not prepared for the reaction of her medical advisors. The doctors, nurses and genetic counsellors were surprised, and then disapproving, of the couple’s decision. The doctors insisted she must have the test because they needed to know beforehand. Due to the high incidence of heart problems in Down’s syndrome babies, they would want a cardiac specialist on hand for the delivery. Still, she refused.
“I walked out of there and I cried for a week,” she says. “They made me feel irresponsible and inadequate.” Her quiet confidence that she was doing the right thing turned to doubt, anxiety and fear. When she read about a simple blood test that could predict fetal abnormalities, she immediately asked her physician about it. Though it is widely available today, Louise’s doctor had never heard of triple serum analysis. A blood test at the 16th week of pregnancy detects certain substances in the mother’s blood that may indicate Down’s syndrome, spina bifida (failure of the spinal column to close properly) or anencephaly (failure to develop a brain) in the fetus.
By now Louise was desperate for some kind of peace of mind about her baby’s health but was still unwilling to risk amniocentesis. When she heard that triple serum analysis was available at a medical research centre in Providence, Rhode Island, she sent them a blood sample. After learning that the result was negative, she sailed through the rest of her pregnancy without anxiety. On November 30, 1993, a healthy 8-pound-2-ounce Caitlin Louise was born. Louise’s story illustrates the mixed blessing of prenatal diagnosis. The new blood test allowed her to find out if her baby was healthy without going through a risky and invasive procedure. But the pressure she felt, both from her doctors and from her own conscience, to make sure she wasn’t bringing an imperfect child into the world, threatened to turn her pregnancy into a stew of uncertainty and dread. She faced what seemed like choices but were really imperatives created by the new technologies.
Ten years ago, when amniocentesis first came into widespread use as a diagnostic tool for Down’s syndrome and a variety of other congenital conditions, only women over 40 were tested. Women at that age have a higher risk of having a child with chromosomal abnormalities (a 40-year-old’s 1-in-65 chance increases to 1-in-19 for a 45-year-old). Young, otherwise healthy women were not offered amniocentesis because the risks of the procedure were not justified. Over the years, however, the age of routine testing has dropped to 35. A woman of that age has 1 chance in 180 of chromosomal abnormalities and 1 chance in 428 of having a baby with Down’s syndrome. Her chance of miscarriage following the test, remember, is 1 in 200. At 35, it is questionable whether amniocentesis is justified.
Today, amniocentesis, with its attendant risks and discomforts, is no longer necessary to screen large numbers of pregnant women for genetic anomalies. Triple serum screening, a simple blood test, is available to women of all ages. By measuring alpha-fetoproteins in the mother’s blood, it determines whether a woman faces a normal risk for her age group. Louise learned to her relief that, though she was 39, she actually had only a 1-in-2,600 chance of having a child with Down’s syndrome — the same as that of a 20-year-old. A much younger woman might, on the other hand, show a 1-in-65 chance. Triple serum screening allows all women to be screened for abnormalities, sparing those who test negative the rigors of amniocentesis.
On the surface, this sounds like very good news. But there is a down side. Last year, during her first pregnancy, 28-year-old Karen Doyle took the triple serum screening, though she had no reason to believe there was anything wrong with her baby, and she really hadn’t given any thought to what she would do if the results were positive. “It was just a blood test. My doctor told me I should have it but it was up to me.” To her dismay, the result was positive. Her doctor referred her to a genetic counsellor who said that, if the reading was accurate, she had 1 chance in 63 of having a baby with Down’s syndrome. The next step was amniocentesis. Despite the risk of miscarriage, Karen went ahead. Three agonizing weeks later, in the 21st week of her pregnancy, Karen learned to her relief that her baby was normal. Now pregnant with her second child, Karen must decide whether to have the maternal serum screening again. And while she remembers and resents the weeks of uncertainty and fear that prenatal testing brought her, she finds now that she cannot resist going through it again.
Karen was unprepared for the emotional and ethical turmoil that resulted from prenatal diagnosis. And she in no way understood the enormous implications of just another blood test. But the mass genetic screening of pregnant women is more than just another blood test. It is creating the imperative to produce perfect babies.
LOUISE HAS A THEORY ABOUT OUR SOCIETY’S DETERMINATION to detect and eliminate defective babies. She calls it the “Yuppie syndrome.” Today’s parents are better educated and more affluent than their parents. They have high expectations for themselves and their children, and they have what she calls “a control mentality.” They have plotted and scheduled their lives and careers, and they like things to work out as planned. Because of birth control, yuppie couples have also been able to plan their families and many have deferred childbearing into their mid- and late 30s. Their parents had five or six children, or more. Some were smart, some weren’t, some were beautiful, some weren’t, some lived and some died. Yuppies will likely have only one or two babies, and they are determined to leave nothing to chance.
Whether the prenatal testing industry has arisen in response to, or whether it created, this need for perfection is open to conjecture. But its efforts are having an effect. Studies show that the incidence of spina bifida is going down. And now that pregnant women of all ages are being screened for Down’s syndrome, it and most neural tube deficiencies may soon be all but eradicated. Is this the same as eradicating tuberculosis and polio? Or is it a form of genocide? And when we have the ability to test for obesity and dwarfism, then what?
Sometimes I think it is possible to know too much. My mother continued to smoke through five pregnancies. Each evening she and my father had a cocktail before dinner. She drank coffee, tried to count calories and get enough exercise. She was 40 when her last child was born. And she had five healthy babies. But each birth was a gamble, each one a miracle. Today’s expectant mothers dare not smoke or drink even in moderation. Caffeine is forbidden. All forms of anesthesia during labor and delivery are frowned upon, breast-feeding is mandatory. Pregnant women have been elevated — or reduced, depending on your point of view — to semisacred vessels dedicated to the continuation of the human race. And if anything goes wrong, they get the blame.
Twenty years ago, I, too, went through a test-free pregnancy. Ultrasound was used only in high-risk situations then. One of my greatest anticipations was wondering about the sex of my unborn children. The moment of the announcement, “It’s a girl,” is unforgettable. But fewer and fewer women go through it. It is becoming as archaic as an ancient fertility rite. Last year, during her first pregnancy, my youngest sister had to insist that the doctors not reveal the sex of her baby. She wanted it to be a surprise. By denying the mystery and the miracle of birth, by turning it into a process th
at can be manipulated and controlled, we are changing the way we see ourselves and our children.
We need to closely examine the ways in which these technologies affect our attitudes. Close to 100 per cent of women who have tested positive from amniocenteses for Down’s syndrome have abortions. Aborting fetuses with Down’s syndrome is widely sanctioned because Down’s syndrome babies are defective, they may suffer, their families suffer, society suffers. In our success-oriented, beauty-obsessed culture, the low intelligence and physical anomalies of Down’s syndrome lead us to assume that such an individual’s life is not worth living. And yet we are appalled that anyone would abort a fetus just because it is a girl. But the Chinese and Indians routinely do so. To Indians, a female child can be a lifelong burden; to be female in China is to risk abandonment or even murder; it is a life not worth living. The point is that the value we put on human life is socially and culturally conditioned. We may believe that we are doing the right thing, but are we?
GENETIC COUNSELLORS STRESS THAT PRENATAL DIAGNOSTIC (PND) tests are entirely voluntary. But a 1993 survey in the Western Journal of Medicine showed 75 per cent of women undergoing PND found it difficult to refuse testing, saying that even though they had not been pressured, they nevertheless felt “obligated” to go ahead. A 1994 poll conducted by Canada’s Royal Commission on New Reproductive Technologies showed that 16 per cent of Canadian physicians think it is socially irresponsible to have a child with a genetic disorder when prenatal screening is widely available, and 40 per cent think they, not the parents, should decide which fetal anomalies justify abortion. The commission’s 1995 poll showed that almost 40 per cent of Canada’s genetic specialists support testing women in their 40s who have a child of one sex and want to know the sex of the baby they are carrying.
PND has come to be equated with responsible parenting. How will a woman who has forgone testing and subsequently bears a child with a genetic condition be perceived by society? How will she see herself? She is likely to feel as though she has done something wrong in allowing such a child to be born. Many women, particularly those with a family history of serious diseases, benefit from prenatal testing, but for millions of healthy, happy expectant mothers, testing confronts them with dilemmas they may have no wish to face and yet no way to avoid.
Some critics of PND go so far as to suggest that in an era of declining birthrates, and a rising interest in midwives and home births, the medical community has economic incentives to create new needs and services. Certainly, a whole new industry is emerging around the science of genetics, and these new industrialists are here to stay as long as they can persuade women of childbearing age that something is wrong with them that needs to be fixed. Psychiatry has long been dining out on the dubious promise that we can all be happy and well adjusted. As long as geneticists hold out the possibility of the perfect child, we will follow where they lead.
Our society values and expects perfection, and technology and science hold out the promise of perfection. This situation has brought us to a familiar and crucial crossroads. Which path will we choose?
Eugenics then and now
THE TERM EUGENICS, DERIVED FROM THE GREEK WORD meaning “well-born,” was coined by Francis Galton, a cousin of Charles Darwin, in 1833. Early eugenicists like Galton, who later helped found the English Eugenics Society, were dedicated to improving the human race through wise mating, either by encouraging “fit” individuals to produce offspring (positive eugenics) or by preventing “unfit” individuals from doing so (negative eugenics). Prominent and powerful people embraced eugenics. Playwright George Bernard Shaw wrote in 1905: “What we need is freedom for people who have never seen each other before and never intend to see one another again to produce children under certain definite public conditions, without loss of honour.” By the early part of the 20th century, the movement had spread to North America. A slim volume published in 1919, The Super Race: An American Problem by Scott Nearing at the University of Pennsylvania is dedicated to “the mothers and fathers of the super race.” Nearing called for arranged marriages of the best and brightest men and women. He dismissed Cupid’s work as that of “a bungler, whose mistakes and failures grimace from every page of our divorce court records,” and declared that “the perpetuation of a hereditary defect is infinitely worse than murder.” In 1924, Lewis Terman, an American who was one of the principal developers of IQ testing, cautioned that if current haphazard human mating continued, at the end of 200 years, 1,000 Harvard graduates would have only 56 descendants while 1,000 Italians would have multiplied to 100,000. In Canada, such prominent citizens as Saskatchewan’s Tommy Douglas and feminist Nellie McClung extolled the benefits of eugenics. As late as 1941, Julian Huxley, a noted biologist and the brother of Aldous Huxley, published an article in Harper’s Monthly entitled “The vital importance of eugenics.”
The Eugenics Record Office, an institution devoted to the study of eugenics, was established in 1904 in Cold Spring Harbor on Long Island with money from the Carnegie Institution, the Harriman railroad fortune and John D. Rockefeller. The first laws allowing for involuntary sterilization were enacted in 1907 in Indiana. By 1931, some 30 states had followed suit. In Canada, British Columbia and Alberta passed similar laws in the mid-1920s.
The early part of this century bore many similarities to today. Science and technology were transforming society. The rapidly changing world brought with it hopes for a utopian future as well as fears about rising crime rates and the breakdown of traditional institutions like the family and the Church. For the first time, science held out the possibility of mastery over an arbitrary and intransigent universe. Darwin’s theories stressed “fitness” as vital to the continuance of the human race, and it was widely believed in those days that most human defects were hereditary. Britain’s lunacy laws of the 1920s provided for the incarceration of the “feeble-minded,” a category loosely interpreted to include recent immigrants, drug addicts, drunkards and epileptics. And surgical techniques were developed that allowed sterilization of “lunatics and degenerates.” Eugenicists believed that poverty, criminal behavior, prostitution and other social problems were inherited.
North Americans’ enthusiasm for eugenics resulted in more than 20,000 involuntary sterilizations by 1935. Between 1909 and 1945, in California alone there were about 10,000, and in Alberta, close to 3,000. That province’s Sexual Sterilization Act was not repealed until 1972 and has recently been the subject of a much publicized lawsuit that resulted in one of its victims, Leilani Muir, receiving $500,000 in compensation. Her sterilization as a “mental defective” (she was in fact of normal intelligence) took place in 1959, but by and large the eugenics movement faded out in the 1940s as the horror of Hitler’s attempts to improve humanity began to sink in.
The juggernaut of molecular genetics and our preoccupation with producing perfect babies could be the slippery slope leading to designer baby boutiques or even genocide. And we need only look as far as Nazi Germany to be forewarned. The Holocaust in which six million Jews were killed was the culmination of 35 years of philosophical and scientific thought. Hitler did not invent “racial hygiene,” the German version of eugenics, he merely used it to his advantage. Indeed, by the time the National Socialists came to power in 1933, “racial hygiene” was a respected theory that had been widely taught since the mid-1920s in most German medical schools. Ridding the human race of undesirable elements was a health issue, in the same way that prenatal diagnosis (the selection and destruction of defective fetuses) is a health issue today. And racial hygiene provided an apparently innocuous cover for Hitler’s anti-Semitism and the horrors of the death camps.
Germany did not pass sterilization laws, however, until after Hitler came to power. They provided for the forcible sterilization of people who were feeble-minded, manic-depressive, insane, epileptic, blind, deaf or alcoholic, just as similar laws in the United States and Canada had been doing for more than a decade. Why then, did the German flirtation with genetic engineering result in such colossal human destruction? What prevented the Americans from rounding up blacks, immigrants and the poor and putting them all to death?
Ruth Hubbard, a biologist at Harvard University who has written extensively on the ethical dangers of prenatal diagnosis, argues that Germany was fertile ground for the Holocaust because of that country’s concept of Volk. Volk refers to the German people, not as individuals, but as a collective body. Defective and diseased people were seen as an infection or a cancer upon the body of the Volk. Hitler seized this culturally ingrained notion of racial purity and drove it to its hideous conclusion. In 1935, plans were formulated at a Nazi party congress for “lives that were not worth living.” Members urged the necessity of destroying “worthless” people and those who constitute “a foreign body in human society.” By 1939, 300,000 to 400,000 people had been sterilized in Germany. In that year, the euthanasia of inmates of mental hospitals started. The program began by identifying defective children three years old and under, who were then transferred from mental institutions to German hospitals where they were killed. The program was eventually expanded to include children over the age of three. By 1941, 70,000 inmates of German psychiatric hospitals had been killed, many at hospitals equipped with gas chambers. Patients not gassed were killed by a lethal injection. Many children were simply allowed to starve to death. Relatives were told that patients had died from natural causes and had been cremated. The confusions of wartime made it easier for the Nazis to carry out these killings; nevertheless, public complaints forced them to end the program in 1941.
A salient feature of racial hygiene are the twin processes of selection and eradication. Throughout the extermination of Jews, gypsies and mental defectives, decisions were made about who was worthless and who wasn’t. The worthless were killed. Selection and eradication (not by murder this time but by sterilization) were carried out by Alberta’s Eugenics Board as it ordered the involuntary sterilization of 2,822 people, among them, 14-year-old Leilani Muir, a young woman who spent the next 20 years going from doctor to doctor to see if someone could restore her ability to conceive and bear children. Selection and eradication are the processes which inform prenatal diagnosis. The echoes of infamy ring loud and clear. “Scientists are once more engaged in developing the means to decide which lives are worth living and who should not inhabit the world,” cautions Ruth Hubbard. They provide the tools, and expectant parents must make the decisions.
One factor that prevented the state of California, for instance, or Alberta’s Eugenics Board from wreaking far greater havoc than they did is the absence of the idea of Volk in the North American democratic tradition. Thankfully, a reverence for the sanctity of individual rights still holds sway in our culture. That and a healthy suspicion of elites, be they medical, scientific, political or intellectual. But the concept of Volk is not far-fetched at all, and the possibility that elites could rule again is very real.
Lesch-Nyhan syndrome is a bizarre and horrible genetic disease. Affected children are mentally retarded and compulsively self-mutilating. They gnaw at and chew their lips and fingers to shreds. They must be constantly restrained to prevent injury. A recent story in the Boston Globe tells of a couple who gave birth to such a child. Both parents carried the recessive gene for Lesch-Nyhan syndrome and a 25 per cent chance that any child of theirs would have the disease. Although they wanted another child, they wanted to be certain it was normal. When amniocentesis showed that her next baby was affected, the woman aborted. Three more pregnancies resulted in miscarriages. She became pregnant again, tested positive for Lesch-Nyhan syndrome once more and had another abortion.
The couple then decided to try in vitro fertilization. DNA testing now makes it possible to detect genetic errors only three days after conception. The couple provided sperm and eggs, the researchers created several embryos, discarded the defective ones, implanted the healthy ones, and nine months later the woman gave birth to normal twins. This is truly a modern medical miracle for a couple with such a tragic genetic history. But the implications are scary. Right now, the technique known as pre-implantation genetic diagnosis is costly and arduous. But geneticists predict they will one day perform it without in vitro, detecting defects before the fertilized ovum has made its journey through the Fallopian tube, before it is even considered a fetus. The unpleasant necessity of abortion, perhaps the greatest obstacle to full-scale genetic engineering, would be eliminated, making it much easier to select and eradicate, select and eradicate. The pressure on young couples to ensure that they bring only perfect babies into the world would be enormous. And when genetic research provides the means to actually alter the genetic makeup of an embryo just days after conception, can designer babies be far behind?
We must be very certain that we understand the power inherent in the new reproductive technologies and acknowledge their capacity for evil as well as for good. Perhaps the ability to create customized human beings will bring with it the dawn of a brilliant new age in human history, a society where crime and poverty, greed and disease, even unhappiness are eradicated. Or perhaps it will be science’s ultimate Faustian pact.
Putting to serious doubt the value of eugenics for improving the human species is the fact that selective breeding has been practised for over a hundred years to produce faster thoroughbred race horses, yet the speed of horses has improved marginally compared to that of human runners who are the result of extremely haphazard breeding!
Would Cecily Ross care to explore a comparison between the German concept of “Volk” as a colletive body and “a people” as defined by the Parti Quebecois?
Thank you for your paper on prenatal testing. I appreciate hearing someone represent the viewpoint that some things are not intended to be within our control. Each life, truly a miracle in itself, is to be valued. I have been trying to have a baby for several years and recently have been undergoing fertility therapy. Through my experience, I am more convinced than I was ever before that life is more precious than most people appreciate. It baffles me that some can undergo the fertility treatments I am undergoing, then when they find out they are pregnant with triplets “selectively abort” one or two. Well, anyway, since the opinion you expressed seems to be in the minority in these perilous times, I thank you for expressing it so eloquently.