Death Before Deformity

The Australian Magazine, January 20-21, 1996

In their search for the perfect baby, more and more parents are choosing to terminate what they know - or even just suspect - is a ‘faulty’ foetus. Roy Eccleston reports on the latest pregnancy tests presenting new dilemmas for the modern parent.

AT THE GATEWAY TO THE HOLIDAY community of Bribie Island, north of Brisbane, locals have erected a giant billboard, bursting with the joyful summer colours of local artist Dale Marsh’s impressionist palette. In it two teenage girls leap down from the dunes to the beach and there, at the bottom right-hand corner, a small boy stands, feet apart, eyes on the sand. Maybe he’s just jumped down himself; or perhaps a scuttling crab has caught his eye.

But Marsh’s carefree image of the youngster, captured forever in an endless summer day, is a long way from the way many would see him. Four-year old Timothy Gould has the chromosomal disorder Down syndrome.

Local businessman Larry Gould wanted Timothy in that painting because his son was "just as good as any other little person". But the reality is that most couples do not agree, and each year a growing number of foetuses with Down syndrome and many other abnormalities are being terminated.

Doctors say that many people, when confronted with the news, hear little after the opening words: "Your baby has ..." In Corinne Phillips’ case, the doctor went on to say Down syndrome and the 42-year-old from Adelaide had no doubt what she must do. "I knew immediately I had to arrange a termination;’ she recalls with certainty. Her decision wasn’t based so much on any suffering her Down’s daughter would endure, but her own family’s ability to cope with a retarded child. "Looking at my son, he’s my main reason," Phillips says, as 19-month-old Michael stumbles and cries in the background. "He needs my attention. He doesn’t need a little sister who’s going to be a vegetable for the rest of her life."

What seemed cool logic was soon sucked into the whirlpool of emotion. "It was the hardest thing l've ever done," she admits, summoning the painful memories. "I kept trying to make excuses, I didn’t want to go through with it. But even though I knew I had to do it, it was still harder in the actual doing than I had expected." Why? "Because you are killing your child. Let’s not gloss over it. I killed my baby." Madeleine, for that was this baby’s name, would have been due a week after we talk. Four months after the day her daughter came into the world and died, Phillips has no regrets, just memories. A funeral was held, a focus for her grief and goodbyes. And on the way to the service she wrote a farewell to Madeleine, and cannot help but weep as she reads it now: "Darling girl, you knew it had to be this way. You didn’t want to live half a life in this body. And we didn’t want you to live with less than you deserve. Better luck next time, little one."

Phillips chose to endure a mini-hell rather than what she believes would have been a prolonged trauma. "You mourn what could have been, but you always know you couldn’t let happen what would have been." She is not alone in her sentiments.

Wrote Phillips to her terminated child: ‘Darling girl, you knew it had to be this way ... we didn’t want you to live with less than you deserve. Better luck next time, little one.’

The question is: are we becoming less tolerant of defective offspring, or simply exercising the choice provided by the new prenatal tests? Whatever the driving force, technology and taste are moving us slowly but surely down the road towards an expectation of a perfect baby - or, rather, one free of major imperfections. Just how many faulty foetuses are culled each year is not known, because -oddly- in most States statistics are not reliably kept. From what figures are available, it’s clear the number is rising steadily. In Victoria, for example, the number of malformed foetuses terminated under 20 weeks’ gestation rose from 154 in 1992 to 186 in 1993. According to estimates, national terminations for Down syndrome rose from 16, or less than 5 per cent of live Down’s births, in 1982 to 114. or more than a third, in 1992 - and the figure has grown sharply since with wider testing. In Victoria alone in 1993, 61 Down’s foetuses were diagnosed, and doctors say the vast majority would have been terminated. In South Australia in 1991, more than 70 per cent of foetuses with spina bifida (open spine) were terminated, compared with about 20 per cent in 1980.

While specialists stress that most terminations are for serious problems, this is not always the case. Professor Shaun Brenneke, the obstetrician in charge of the perinatal unit at Melbourne's Royal Women's Hospital, says an ultrasound examination might spot a missing hand. "Is that sufficient justification for terminating a pregnancy?" he says. "In this search for perfection that you are talking about, I must say for some couples that [it] is ..." And Sydney prenatal specialist Dr John Anderson estimates that of the limb deficiencies he finds, even where there is no other abnormality, the decision to terminate or continue is about 50-50.

Corinne Phillips and son Michael at Madeleine's graveside ... 'l knew l had to do it.'

The issue is now at the forefront of ethical debate around the world. A public row was reported in The Netherlands recently when geneticists revealed they bad terminated at the parents’ request two foetuses diagnosed with a hereditary condition causing blindness - in middle age.

"I think people’s expectations have changed," says clinical geneticist Dr Agnes Bankier of Melbourne’s Royal Children’s Hospital "They are aiming for a baby free of birth defects, rather than just avoiding a lethal and serious disability. Some parents will take the view that since abortion on demand is okay, abortion at parents’ request for any abnormality should also be acceptable." Naturally, some doctors disagree, and several Dr Bankier knows will not terminate for problems like a cleft lip and palate that can be repaired. "They say, go somewhere else." It is a trend that disturbs Dr Christopher Newell, an ethicist at the University of Tasmania and an activist for the disabled. "It marks a society which seeks a quick fix. It’s a society where the quick fix is the death of the foetus, as opposed to ensuring that people who are a bit different ... are recognised as having the right to be alive as opposed to being a burden on themselves and society."

The new medical technologies are far from perfect. They still miss most of the estimated 5 percent of pregnancies that are abnormal. However, the list of conditions that can be found is growing (see box), and perhaps our expectations with it. "People have changed their outlook, no question," says a leading Brisbane obstetrician, who declines to be named for professional reasons. "In fact I think it’s swung much too far - people have an expectation that’s not reasonable [of what doctors can do]."

Well, what can they do? The tests fall into two main categories: screening and diagnostic. The most common of the former is the ultrasound, which uses sound waves to provide pictures of the foetus’s structure, and is done about 18 weeks into the pregnancy. Another involves a maternal blood sample in screen for indications of defects like spina bifida and Down syndrome, at about 15 weeks. Then there are diagnostic tests, which are used once a problem is suspected. These require foetal cells and presently there is only one way to get them - from the womb, via a needle. This can be done with amniocentesis, usually at 15-17 weeks, which samples fluid around the foetus; or chorionic villus sampling (CVS) usually at 10-12 weeks, which samples the placenta. The latter technique was developed by the Chinese to identify unwanted females.

There are a growing range of tests that use foetal cells to identify some of the 5000-plus single-gene disorders such as cystic fibrosis, muscular dystrophy and Huntington’s disease. And now, taking a big step backup the path leading from conception, scientists are using in-vitro fertilisation techniques to avoid the problem of terminating a pregnancy - although not a potential life. The IVF techniques involve the creation in a laboratory of embryos using the parents’ egg and sperm. In cystic fibrosis, for example, where both parents carry the defective gene, there is a one in four chance the baby will have the condition. Tests of the three-day-old embryos can identify one that is free of the mutant gene - this "perfect" embryo is then implanted in the mother. Alternatively, where the condition is gender-related, the doctors reject embryos of the sex that will be affected by the faulty gene.

ON A STIFLING HOT QUEENSLAND afternoon, three-year-old Cassandra Bonomo, her long blonde hair tied back in a ponytail, sits happily in her briefs before the television set in the relative cool under the family home on Brisbane’s northern outskirts. It is only when Cassie turns around that it becomes clear that she is not your average toddler. These eyes will never flash with piercing intelligence; nor could they conceivably harbour wickedness. Yet they reflect a mother’s love.

Tracey Bonomo, 32, did not recognise anything unusual about her daughter at birth. But two days after the caesarean birth she chanced on her paediatrician in the hospital nursery. "He just walked up and said, ‘Did you have a scan?’, and I said I’d had several," she recalls. ‘From that I Knew something was wrong. And he said, right in the middle of the nursery among everyone, ‘Oh, I think she’s Down syndrome’ That was really devastating." Six weeks later, the paediatrician was no more helpful at a check-up in his room and Bonomo says he told her: "Take her home and hope for the best." She ignored that advice. Now Cassie is doing gymnastics, speech and other therapies. How’s Cassie now? "She’s wonderful, she really is," she enthuses.

Down syndrome is the most common chromosomal form of mental retardation, occurring in about one in 660 births, with the frequency rising with the mother’s age. It is not a disease but the result of a 47th chromosome, one more than the standard 23 pairs. The result is very low intelligence, maybe congenital heart problems that require surgery, and possibly a range of other ailments. These people need a lot of help from their parents and society, but given that, can enjoy life.

With more older women having children, the number of Down syndrome babies conceived is growing. Yet earlier diagnosis of the condition, resulting in a high rate of terminations, means the number born is decreasing. While some women refuse the tests for Down’s or continue with the pregnancy regardless, the evidence is that most do not. Dr Eric Haan, director of medical genetics at the Adelaide Women’s and Children’s Hospital, agrees that in time we’ll see fewer Down’s people in society.

Despite the traumatic way in which she learned about Cassie’s condition, Tracey Bonomo does not believe this trend towards terminating Down’s pregnancies is a good one. "No," she says. "They just bring a lot of happiness and fulfilment." Cassie, she says, is not suffering at all "If anything, it’s everyone else who is suffering - other people feel sorry for them. They enjoy life more than we do."

Jenny Gould with her Down’s son Timothy (also in the painting): 'He's terrifically happy.'

Jenny Gould, mother of Timothy, agrees. Her son is slower to learn and needs heart surgery, but "he’s got potential, he’s terrifically happy". And, she says, it takes all types to make a world. "If we’re going to eliminate these children, like Down syndrome, children with cystic fibrosis, any form of disability, we’re going to be a very uncompassionate lot because we’re not going to know any different."

Both women, who met through the Down Syndrome Association, have high hopes for their children. They expect they will go to regular schools. Gould says doctors are often too ready to tell women of the negatives of having a child with Down’s, while they do not go into the possible problems a child with the normal number of chromosomes might face.

Doctors say they don’t want to steer couples in any direction, just provide the good and bad points about a condition. Sonja Taylor-Uhlmann, 36, from Queensland, found out just a week before our interview that she had a 20-week Down’s foetus. Her specialist did not try to push her one way or another. Sonja had not had a blood test (she was unaware one existed) but an experienced ultrasound specialist picked up a heart defect and some thick skin on the back of the foetus’s neck.

There was, he told her, a 5 per cent chance it was Down’s. A week later - "the longest week in my life" - the results from the CVS made it virtually 100 per cent. "I just went to pieces," she says. "My instant reaction was terminate, get rid of it ... I don’t want this baby." Over the next few days, Sonja and husband Terry reconsidered. She bad already felt the boy kicking. ‘Whatever the decision we would feel some guilt," she says. "If we terminated we’d feel guilty about not giving him a chance because he was less than perfect" For Terry it came down to this: "I couldn’t kill my own kid. I’d already seen his heart beating."

THERE ARE TWO APPROACHES TO TESTING. Women over 35 or 37, depending on the State, are offered an amniocentesis or CVS. The age is chosen because the risk of having a Down’s baby is about one in 200 at 37, roughly the same as for a miscarriage caused by amniocentesis. Also available is the blood test South Australia has offered this to all pregnant women since the early nineties, and the results have been spectacular.

In 1987, 22 percent of all Down’s pregnancies in South Australia were terminated, but since the blood test was made available to all women there about three years ago, the proportion has jumped to about 60 per cent. About three quarters of all pregnant women in the State have the test, and of the roughly 4 per cent who return an abnormal reading, eight in 10 go onto have an amniocentesis. In 1994, three quarters of the women who were found in this way to have a Down’s foetus terminated. Western Australia has also started to offer the test to all pregnant women through a centralised service, with the result that last year the prevalence of Down syndrome births was halved.

Yet two cases highlight the dilemmas the various tests can cause. Caroline Fyffe of Melbourne was 40 when she fell pregnant, and a CVS detected a chromosome abnormality called Triple X. After advice from genetic specialists, who told her the condition could cause learning difficulties but was not very serious, she continued with the pregnancy and today says her three-year-old daughter is "the most gorgeous child ever". Katie, who has no physical signs of abnormality, was slow to speak but is responding well to therapy. So how does Caroline feel about having had the test? "That is where l'm torn," she says. "In one way I wish I didn’t know. She’s got a label stuck on her now - Triple X. But on the other hand if she’s going to have problems down the track at least we’ve got our eyes open and can do something a bit sooner than we might have otherwise."

‘If we’d terminated we’d feel guilty about Not giving him a chance,’ says a mother who decided to keep her Down’s child. Says his father: ‘I’d already seen his heart beating.’

South Australian Marie Steffe, 30, had a different experience, but also ended up with mixed feelings. Steffe, 33 weeks pregnant when we talk, recalls the phone call from her doctor a few months before, telling her that she had returned abnormal results in the blood test for Down syndrome. By the time she put down the phone she was sick with fear and worry. Then five months pregnant, already she could feel the 25cm foetus kicking her. Now she thought her baby might be mentally retarded.

"I was pretty upset - I was very upset," she recalls. "I cried a lot" Marie’s test only gave an indication that the baby might have Down’s. To find out for certain, an invasive test was needed. If Down syndrome was confirmed, would she abort the baby? And if it was a false alarm, as the test was highly likely to be, would she be the one for whom the amnocentesis caused a miscarriage - of a normal baby? Like most women, Marie received the all-clear after a fortnight’s wait for the result "To be honest, I don’t know ill would do it again," she says. "It seems a lot of high-risk results [false alarms] come back, and with amniocentesis there’s a chance it could cause a miscarriage."

The national figures from the Health Insurance Commission confirm the blood test for Down’s is now more widely used. Introduced about five years ago, its national take-up under Medicare was 21,000 in 1992-93 and 35,000 in 1994-95, with South Australia and Western Australia the big users per head because the test is offered to all pregnant women there. It is also popular in NSW, with 13,000 tests taken in 1994-95, but the surprise is Victoria, where less than 2000 tests were ordered.

Dr Les Sheffield, a senior clinical geneticist at the Victorian Clinical Genetics Service, explains why. For the past five years, he says, doctors in that State have opposed the test, believing that the benefits would be outweighed by the great anxiety it caused without proper testing and counselling standards. For this blood test is a most imperfect one. First, it misses about 40 per cent of Down’s cases. And of the women it says are potentially at risk (ideally about 5 per cent), only one in 50 will actually have a Down’s foetus. Sheffield says his views have since changed, however, and the service is now moving towards offering the test. On the evidence elsewhere, this will lead to a significant jump in Down syndrome terminations.

Adelaide obstetrician Dr Elvis Seman, with other Catholic doctors, argues that women who have unconditionally "accepted" their unborn baby ought to be counselled against having the test. Seman says antenatal diagnosis today is about coming up with a baby that looks normal. Yet the criminal and the insane look normal. "There are lots of things to be learned from simple folk with Down syndrome," he argues. "I think babies are undervalued now."

THE NEXT BIG DEVELOPMENTS IN THE quest for the perfect baby are likely to come about on two fronts. First, blood tests for Down’s are being developed to allow screening earlier in pregnancy, before the foetus has begun to move. Doctors say this will make terminations more acceptable to women. Research from Israel last year showed that ultrasound in early pregnancy using a probe in the vagina had led to an almost total termination of abnormal foetuses, even for conditions some obstetricians thought minor. Also possible is a blood test that replaces the invasive amniocentesis, isolating foetal cells from the mother’s blood.

Major congenital abnormalities:
Trisomy 21- Down syndrome
Trisomy 18 - Chromosomal, produces physical and mental defects. Most die soon after birth.
Cleft lip and palate
Spina bifida
Hydrocephalus - fluid on the brain
Anencephalus - brain missing; most are stillborn
Cystic kidney disease
Malformed limbs
Common single-gene defects include:
Thalassaemia - severe anaemia, shortened lifespan
Haemophilia
Cystic fibrosis
Muscular dystrophy
Fragile X syndrome - causes mental retardation
Spinal muscular atrophy
Myotonic dystrophy - severe muscle weakness
Huntington’s disease

The second front is through developments in our knowledge of the links between specific genes and illness or disability: There are at least 5000 disorders caused by a single mutant gene in the more than 80,000 genes each of us has. Generally these conditions are rare. The most common, cystic fibrosis, occurs in one in 2500 births. So the technology, while able to work with the tiniest amount of genetic material, is limited by one big factor: you must be looking for something specific. There is no test that takes a sample of foetal material and picks up a flaw here or a flaw there. A couple needs a reason to suspect they are at increased risk: they may already have an abnormal child, or may come from a family or ethnic group prone to some conditions, like the blood disorder thalassaemia in people from Mediterranean countries.

Dr David Turner, a molecular geneticist at Flinders Medical Centre in Adelaide, says that from a sample of foetal material, a whole range of difficult choices might arise for parents. "One might be your foetus is going to be a child with Duchenne muscular dystrophy," he says. They are normal at birth but in the first two or three years their muscles weaken, and by about 10 they’re confined to a wheelchair and will die in their late teens. Another possibility is cystic fibrosis. This involves chronic lung infection and poor nutrition because of digestive problems. But with physiotherapy, drugs, special foods and medicines to clear the lungs, the sufferer can expect to survive into his or her thirties. Gene therapy for the lungs is also on the way.

Suddenly, Dr Turner says, your decision about what to do has become a little harder. "Now what about Huntington’s disease? It’s a neuro-degenerative disease; sufferers eventually show abnormal movements, become demented, undergo dramatic personalty changes. This doesn't usually start until the late thirties, but there’s no cure ... And, say, a foetus with an 85 per cent chance of getting Alzheimer’s disease, would you want to terminate that? It’s a disease that doesn’t start until the 60s or 70s. Is it reasonable to terminate a foetus for a disorder that the person won’t suffer for 70 years?"

Professor Peter Rowe, director of the Children’s Medical Research Institute in Sydney, takes up the point. One large, extended family in Australia carries a gene that makes it virtually certain the carrier will die of cancer. By the time researchers recently found one member, a woman in her 30s, she had already had a child - and that child had died of a brain rumour at age two. But, ponders Rowe, what would they have said if she had still been pregnant? That the baby would have a one in two chance of having the gene, so she should not give her child the chance she had had - 30 years of healthy life at least?

Rowe says the single-gene disorders are fairly rare. "I think the issue is going to be when we start picking up genetic markers for common conditions [like heart disease] that will be compatible with a reasonable lifespan - someone might get 20, 30, 50 years - and some will have a bigger risk than others. That’s when the fun will start."

All of this raises ethical and legal issues. They are similar to those in the abortion debate, but there are differences - these foetuses are generally wanted, often planned. And while parents may not want the abnormal baby, others will take them. For example, in Queensland last year, three Down’s babies were made available for adoption and all were taken.

Drs Eric Haan left and Christopher Newell are concerned about social pressures on parents.

There are different views among ethicists on how we should treat abnormal foetuses. In his book Rethinking Life and Death, Melbourne ethicist Professor Peter Singer argues that our ethics have failed to keep up with change. He says women are entitled to terminate abnormal foetuses, even though he believes this is killing a human being. "But because I don’t accept the sanctity-of-all-human-life doctrine, I think we should be honest and face the fact that it is killing a human being but not a human being at a sufficient state of development for us to believe that life needs to be protected in all cases."

Singer recalls being confronted on German television by a disabled person who made the point that if Singer’s views had been accepted when he was conceived, he wouldn't be around today. "I would not have existed and yet my life has been a good one." Singer responded that his critic’s termination would not have caused any great harm. First, the man would not be aware he existed at the time of the termination; second, his parents could have then created another life which was likely to involve less hardship.

The trouble with this argument is, where does it stop? In Singer’s eyes, a foetus is not conscious of itself or its future and so does not suffer if terminated. Yet what is the difference between a foetus and a newborn baby - apart from the fact that it is no longer in the womb? Is infanticide therefore acceptable? In some cases, he argues, it probably is.

NOR IS THE LAW VERY HELPFUL. MOST States don’t have one that specifically covers the termination of abnormal foetuses. Doctors in many areas rely on laws that allow abortions where the mother’s mental or physical health is at risk. Is a missing hand such a case? "It can be," says one of Brisbane’s leading prenatal specialists. "You can certainly certify that it can be." The law is generally silent on how serious an abnormality must be to warrant termination. The answer seems to be a matter of personal choice.

Law or not, the notion of killing a foetus with disability has community support - between 75 and 85 per cent in the main English-speaking countries. The director of the Murdoch Institute for Research into Birth Defects in Melbourne, Professor Bob Williamson, says it is entirely ethical to offer the tests - provided they are for serious conditions, not for gender or late-onset problems like heart disease - and after 35 years he has great trust in the intelligence of parents to make their own ethical choice. "My personal view is that if people are really concerned about terminations of pregnancy, they should start by looking at the social and economic reasons that lead to termination of healthy foetuses, rather than at these grey areas," he says.

Dr Christopher Newell, ethicist and senior lecturer in community and rural health at the University of Tasmania, uses a motorised chair and oxygen bottle and believes "society handicaps me far more than my disability". The social belief that disability is a bad thing pressures couples diagnosed with a disabled foetus to terminate that life, he says.

This subject is touched on by Eric Haan from Adelaide. Those who do not want a disabled child and opt to terminate often not only doubt their own ability to cope, but are concerned about society’s response. "While society says it wants to do everything for children with intellectual disability, in practice it doesn’t, so there’s a double standard." The parents unexpectedly presented with a Down’s baby usually do what they can to make the best of the situation, and gain some enrichment, he says. Ask those people whether, given the choice, they would want another, and the answer would often be "we love our child but we’d rather not have a second".

Tracey Bonomo knows what Haan means. After Cassie, she opted for an amniocentesis in her next pregnancy. At their doctor’s insistence, the Bonomos made their decision before the test was done: they would terminate if a chromosome abnormality was found. Unborn Regina had Triple X. Unlike Caroline Fyffe’s specialists. Bonomo says her geneticist warned that while the child would look normal, there would be serious behavioural problems.

Regina did look normal, Bonomo says. "It was the worst, worst experience of my whole life," she says quietly. "It took me a long time to get over it. I still to this day wish I hadn’t [had the termination]. But in another way I knew it would bring us all down. I couldn’t have coped."

It would have been a massive burden, particularly if we are, as Haan says, a society intolerant of imperfection. "You see how people are," says mother-to-be Marie Steffe. "And I’m guilty of it. Someone different catches a train, or walks down the street, and you can’t not look at them and think, poor things. "When you have a child, you want it to be perfect. And then you see these well, they’re not so perfect, is possibly what people would think. But until you’re faced with the decision you really don’t know how you would react."

Erwin Olaf's photographic exhibition is at the Roslyn Oxley9 Gallery, Paddington, NSW from February 6 to March 2.