Every parent wants a healthy child. Now science can tell us–in some cases, before we conceive – our chances of having one. But the more we know about our unborn babies, the more “perfect” we expect them to be – and the more agonizing our choices when they’re not.
by DEBORAH JONES
VANCOUVER, Canada August 1998
The twinge of pain that Dione Baker feels has nothing to do with the pinprick on her inner elbow. The needle pierces the soft white skin; the vial fills with blood. It all takes just a few minutes, but her unease persists for days afterward. After all, this is no routine blood test. The tiny test tube of blood is headed for DNA analysis at the Molecular Diagnostic Lab. Its contents hold the answer to the question gripping Dione and Wayne Baker: will they be able to have a healthy baby?
The Bakers live in the neat-as-a-pin town house they bought three years ago in the Vancouver suburb of Maple Ridge. Wayne, 28, manages a team of computer experts for a local government. Dione, 27, is an insurance adjuster who works mostly out of her home office. They are selfdescribed homebodies. “We like to set goals for ourselves,” says Wayne, sitting at the kitchen table, surrounded by mementos and family photos. “First, we moved out and got an apartment. Then, we saved to buy a house. Then, we got married.” Next, it was time to have children.
That’s where their plans went awry. On a winter evening two and a half years ago, Dione and Wayne were watching Melrose Place on TV, when Dione’s mother called with news about her sister’s baby. The boy had been mysteriously ill since he was born nearly six months earlier; at one point, he had almost died. Doctors had finally diagnosed the problem: cystic fibrosis, a genetic disorder with symptoms that include thickening of mucus, especially in the lungs and digestive system. Most people with CF don’t live past their 30s.
For Dione, compounding shock and worry about her nephew was the devastating realization that she might herself carry the same faulty gene that caused his disease. After consulting her family doctor, she followed her advice to undergo genetic testing. Now, a technician at the B.C. lab looks at the bright glowing bands created when the DNA extracted from Dione’s blood sample is processed and exposed to ultraviolet light. She doesn’t need to consult a chart to recognize the pattern. Glowing on the gel is the most common of the hundreds of mutations for cystic fibrosis, delta F508. Dione Baker has tested positive for the CF gene mutation.
Dione herself doesn’t have CF. What this means is that she’s a carrier, so that if her husband is also a carrier, there’s a good chance a child of theirs could have the disease–if they even decide to have a child. “I just burst out crying,” Dione recalls of that day two years ago when she learned her test results. “At first I felt, ‘Oh my God, I can’t have children. What do we do now?'”
Before this current generation, would-be parents simply plunged into parenthood, hoping for a healthy child. Most babies turned out okay, some did not survive, some were disabled. Most kids continue to be born out of blind fate–but that’s rapidly changing as we create more ways, sometimes worrisome ways, to make our babies perfect. Today’s generation of parents is the first in history that doesn’t have to wait until children are born to see if they are “flawed.” While our ancestors may have consulted tea leaves or dangled needles over maternal bellies to predict a child’s sex or health, we can test accurately for an increasing range of disorders-and for some genetic flaws we don’t even understand (see “One mother’s story,” page 41). Couples like the Bakers can take genetic tests before a pregnancy to find out their chances of having a child with cystic fibrosis, Tay-Sachs disease and numerous other disorders. Prenatal tests such as amniocentesis and chorionic villus sampling routinely detect disorders such as Down syndrome and spina bifida. And for infertile couples who try to conceive through in-vitro fertilization (IVF), tests on embryos conceived in the lab can detect a similar range of problems even before they’re implanted in the mother’s womb.
In part, what has raised our fears and hopes is the meeting of two branches of science: new reproductive technologies and human genetics. For two decades now, couples unable to conceive have had the option to have “test-tube babies,” babies conceived outside the womb. Now, cutting-edge genetics adds a new dimension. Scientists are already working on genetic tests that predict tendencies to get cancer, take risks, be shy, be fat, be alcoholic, says Vancouver genetic counselor Jane Hurlburt. Thanks to a global research initiative called the Human Genome Project, which aims to complete its map of human genes in just a few years, we will soon know the general location of every gene in the human body. The marriage of the two technologies will allow us not only to examine unborn human babies outside the once-secret darkness of the womb, but perhaps, in the future, also to genetically alter them–or reject the ones that can’t be fixed.
As ominous as genetic engineering sounds, who would protest if we could add to our babies, say, an immunity to heart disease? What if those experts could “fix” a gene to change the sexual orientation of a fetus who showed a tendency to be homosexual? Where and how would we draw the line to say what forms of genetic engineering are good or bad? That kind of choice is still far in the future–although advances in gene therapy mean scientists are working to correct defective human genes such as the one responsible for adenosine deaminase deficiency, a rare condition that leaves people with no resistance to infection. Today, as new tests become available, will parents-to-be feel pressure to weed out “unsound” babies? Already, now that we can eliminate some “defects,” we are grappling with the question of which ones to eliminate–and what it means to decide that some lives are not worth living. Our new abilities raise as many questions as they answer.
For Dione and Wayne, the next step was to get Wayne tested. If he were a CF carrier, giving their child a one in four chance of having the disease, they’d agreed to adopt. “I couldn’t bring a child into the world knowing that’s the fate of the child,” says Dione. Wayne’s test came back negative–but with a catch. In B.C. hospitals, tests for the disease only cover the 12 most common of the gene mutations that cause CF. There are several hundred others, meaning genetic counselors can be only 85 to 90 percent sure that Wayne does not carry CF. The Bakers’ chances of having a baby with cystic fibrosis are estimated at one in 500, versus the one in 2,500 that’s the average. But instead of relieving her fears, Wayne’s test result only undermined Dione’s confidence.
Scientists estimate that each of us has a handful of genetic mutations capable of causing a variety of health problems. As individuals, we may be healthy, but if we mate with another carrier, we may pass on the affliction to the child. A few years ago, Dione would have worried no more about what could go wrong than anyone else. But after watching her nephew almost die, she wanted to take the test for the CF gene mutation, a test that has been available since 1989. Many of us would do the same. “We’re the type of people,” says Dione, “who don’t want to bring a child into the world if we know there might be something wrong with them.”
That view is hardly uncommon in an age where we have access to more and more information about our unborn babies (see “Testing, testing,” page 39). And yet, for all the new knowledge at our fingertips, we are left with few solutions: in the case of a bad prenatal diagnosis, abortion is still the option that overshadows all others. The options are equally limited in the Bakers’ case: when only one parent is a carrier, prenatal tests cannot detect CF in the fetus–doctors simply don’t know what mutation to look for. As it turns out, having cystic fibrosis is not as bleak a diagnosis as it was even 20 years ago. Treatment of the symptoms is improving. At the cystic fibrosis clinic at St. Paul’s Hospital in Vancouver, there are adult CF patients who disability is so mild that some run marathons, others have thriving careers and many contemplate having children of their own. Since coordinator Janet Hopkins began working there two decades ago, the expected life span of a person with CF has jumped from the early 20s to the early 30s.
Hopkins worries about the ease with which we can decide that some genetic defects render a life not worth living. “There’s more to people than just a disease. If we remove a certain segment of people based only on disease, what kind of contribution and attributes are we going to be missing?” Chopin, she points out, is now thought to have had cystic fibrosis, yet he gave the world a gift of music.
For the Baker family, big-sky thinking about Chopin is far removed from watching their sick nephew, now 2 years old, struggle daily. “There’s no cure for CF. From what I’ve read I know my nephew is going to have a hard life. He’ll just get sicker and sicker until his lungs collapse and he suffocates,” says Dione bleakly. Who can blame her for worrying about the reality that her own child might suffer?
Catherine Trembath, 36, knows that reality–although her perspective is quite different. Catherine remembers the pact she made with her unborn child. She was just over five months pregnant and walking home from work in Victoria. Suddenly, she was torn by a sharp pain. “I stopped in my tracks and said to my unborn baby, ‘Okay, you stick with me and I’ll take care of you, I’ll take care of you for the rest of my life. Everything’s going to be okay.’ In that moment everything crystallized. It was a conscious decision, and Charlotte and I both made it, to stick together.”
The pain was not the first indication of trouble. At seven weeks, doctors had informed Catherine she had an irregularly shaped uterus, which put her at risk for premature delivery. Two weeks after that first sharp pain, Catherine’s membranes ruptured. Her doctors ordered total bed rest. At 30 weeks, after an infection set in, doctors performed an emergency cesarean. The baby weighed just three pounds five ounces at birth, low enough to be considered critical. Catherine and her husband, Mark Heine, took her home four weeks later. At age 1, she was diagnosed with cerebral palsy, a condition caused by brain damage before or during birth, or in the first three years of life.
Now 3 years old, Charlotte cannot stand or crawl, and has limited use of her hands and arms. She may never walk without the assistance of a walker. Catherine and Mark certainly didn’t set out to have a child with special needs, but they say Charlotte’s presence has enriched their lives. (Catherine, an art director-turned-freelance graphic designer, and Mark, an illustrator, both work from home.) “We’re blessed,” says Catherine simply. Intellectually, Charlotte is all there. “She speaks clearly, has all her cognitive skills and is quite bright and happy. She and her dad love to joke around. A parent will always love a child, but not every parent likes their child. I like Charlotte,” says Catherine.
She and Mark are expecting their second child–even though Catherine is judged by her doctors at high risk of having another baby that’s premature and possibly disabled. “We did a lot of research about the risks before we decided to get pregnant the second time. It was something we needed to do, and if we have a second child with special needs, that will be fine,” says Catherine. “We can’t ignore that with that body comes a spirit, a thinking person, and you can’t tell what that person is going to be.”
Not everyone would agree with her decision. In fact some, like Sharon Carter*, might wonder why Catherine even carried her first pregnancy to term. When Sharon, 33, was pregnant with her second child last year, a routine ultrasound suggested her child might have Down syndrome. A follow-up amniocentesis, a more accurate test for Down, showed that the fetus was healthy. But even as Sharon cuddles her nine-month-old daughter, whom she calls “my little ray of sunshine,” she’s clear about one thing: had the test confirmed a Down diagnosis, “I would have terminated for sure. I have no qualms about that. I thought it was fabulous to have that choice while the baby was in the womb, that I would not have to deal with a Down baby for the rest of my life.” Today, many people manage to live with Down syndrome, but Sharon is surprised that babies with Down are still born: why would parents who know that their babies will be disabled choose not to terminate?
In a way, the divergence between her rather narrow view and Catherine’s illustrates the most fundamental debate around our quest for perfect babies (and our rejection of imperfect ones). For Catherine, there’s something to cherish in a life, with or without a disability, whereas Sharon, perhaps more pragmatic, focuses on the quality of a life she considers worth living. Neither condemns what others choose: Catherine remains pro-choice, and Sharon feels compassion for parents she considers unlucky–and naive–enough to have an imperfect baby. But will Sharon’s pragmatic perspective prevail? As health dollars become tighter and more couples opt for prenatal testing, will those who choose not to test face diminished resources–and censure by friends, family or society? Our world probably won’t become one of the dystopias of literature, with governments forcing women with troubled pregnancies to abort–but we may begin to socially pressure women in much the same way.
As we grapple with such questions, technology races along. Even before last year’s controversial report that scientists had cloned a sheep called Dolly, researchers at George Washington University had performed a crude cloning of a human embryo. In the future, such technologies will let us weed out most flaws: if one partner has faulty genes, the other can simply be cloned to produce a child. According to controversial U.S. biologist Lee Silver, scientists predict that one day we’ll have two species of humans: those enhanced by genetics and other costly technologies, and the rest, who will ultimately form a lower class.
For couples unable to have children–or have healthy children-new reproductive technologies are a godsend. Indeed, when it comes to individuals, most of whom simply want the best for themselves and their children, it’s hard to find fault with how we use new science. If the technology is there to make a baby, or to make the baby healthier than nature would allow, then why not–especially if those who want the service are willing to pay for it?
The catch, of course, lies in the long-term implications. Can we ethically justify weeding out those who are less fit? Besides, our knowledge of human genetics is very recent and profoundly limited. What if we “weeded out” traits necessary for our survival? “In nature there always seems to be a reason for something,” says Janet Hopkins of the CF Foundation. “We have genetic defects that are very prevalent. They might serve some sort of purpose that we are not able to understand.” Scientists speculate that carriers of the cystic fibrosis gene mutation may have helped some of our ancestors survive typhoid fever. Carriers of the gene for sickle cell anemia are less susceptible to malaria. “If we ever eradicate these genes, what would happen?” asks Hopkins.
Some experts argue that’s one reason individuals shouldn’t decide the direction of the new technologies. “The perfect baby is becoming a subtle commercialization of the same ideal traits that shaped eugenics at the turn of the century,” warns American bioethicist Glenn McGee in his book, The Perfect Baby (Rowman & Littlefield). He argues that the trend toward cultivating “good” traits and weeding out “bad” ones is disturbing, especially because, in the absence of clear government regulation on how far we can go, it’s the market that’s now dictating the technology’s use.
Market forces are more evident in the U.S., where one can pay for virtually any known genetic test, says Dr. Doug Wilson of the B.C. Children’s and Women’s Hospital. Still, some experts, such as geneticist Dr. Patricia Baird of the University of British Columbia, who chaired Canada’s 1993 Royal Commission on New Reproductive Technologies, argue that government regulation is needed in Canada too. At present, it’s individual genetics clinics and the Canadian College of Medical Geneticists that decide who gets tested and for what. Most prenatal testing in Canada is covered by medicare for those at risk. But as the technology advances, certain procedures (such as testing an embryo before implantation) could become “extras,” available only to the well-off (just as IVF is now an option only for those able to pay the $6,000 fee).
Baird’s 1993 commission made two sets of recommendations: first, set up minimal legislation to ban certain practices, such as postconception sex selection, and regulate others, including prenatal genetic testing. And second, set up an advisory body with regulatory powers composed of members of the lay public as well as ethical and medical experts, who would respond to changes in technology and frequently update the guidelines. Bill C-47, the federal legislation introduced in 1996, addressed one of those suggestions. It outlawed certain practices (such as the selling of eggs) but made no provisions for a regulatory body. That bill died when the federal election was called, but Ottawa is expected to introduce new legislation this fall.
In Maple Ridge, Dione and Wayne Baker are hoping to become pregnant soon, despite their concerns about the risk of cystic fibrosis. Getting pregnant may not be the last of their tough decisions. They won’t know if their unborn baby has CF, but will they go through other prenatal testing? Will they consider abortion if they get bad news? Right now, neither is sure what the future holds. Yes, they have looked into the proverbial crystal ball, but there are still no easy answers to be found.
Prenatal tests, in some form, are used in almost every pregnancy in Canada. In more than 95 percent of cases, they confirm the fetus’s good health. Where they don’t, abortion may be the only alternative to carrying the pregnancy to term. (A few parents who have already decided to carry a fetus to term also undergo such tests, to prepare in advance if their child is disabled.)
Noninvasive prenatal tests include ultrasound and a maternal serum triple marker screening. Ultrasound or sonography, in which sound waves are sent through the womb and then interpreted on a screen as a picture, has become a routine test performed on most pregnant women. An ultrasound can detect chromosomal defects (such as Down syndrome) and some defects of the brain and spinal cord (such as spina bifida).
Maternal serum screening is also increasingly used to detect spina bifida. Analysis of the mother’s blood is done at 15 to 20 weeks of pregnancy. Depending on the disorder, tests are 60 to 90 percent accurate. Because false positives can occur, further tests such as amniocentesis are essential.
Invasive prenatal testing of a fetus is done less than 10 percent of the time. Material is obtained from within the womb by a needle or a catheter (at some risk to mother and fetus), then analyzed in a laboratory. Doctors recommend such tests for fetuses considered at high risk because their mothers are older (over 35), or where there is a reason to suspect a specific disorder.
The material obtained this way can be analyzed for chromosomal anomalies, biochemical disorders and more than 200 genetic conditions. Most fetuses are tested for chromosomal anomalies, while tests for genetic mutations such as cystic fibrosis are only performed where a risk is identified.
The most common invasive tests include chorionic villus sampling, usually at 10 to 12 weeks, and amniocentesis, usually at 15 to 17 weeks. (A recent nationwide trial of early amniocentesis, performed at 11 to 12 weeks, showed it is not always effective and increases risk to the fetus.)
Preconception genetic counseling, for couples who want to be tested for a condition before becoming pregnant, is still relatively unusual but is growing with more public awareness, says Vancouver genetic counselor Jane Hurlburt. Counseling for certain specific inherited conditions is now available throughout Canada, usually restricted to couples referred by doctors because they are at increased risk for that condition. As with most prenatal tests, cost is generally covered by provincial health care–although in the U.S., couples who can’t get a referral can pay for any test they want.
Copyright Deborah Jones 1998
* Name has been changed
Originally published in Chatelaine magazine August, 1998