Parents of children with Down Syndrome and campaigns such as Don’t Screen Us Out argue that the indiscriminate use of pre-natal screening for Down’s – without a truly non-judgemental and even-handed approach – is encouraging the elimination of an entire population.
The medical profession – and the state – say that advances like virtually risk-free pre-natal screening are an important part of the process that allow parents to make informed choices.
The momentum towards designer babies is more than likely unstoppable. Vast resources are being devoted to finding ways of making us smarter, healthier, fitter. Technology and science are collaborating to change the human condition by improving our bodies and our minds in pursuit of perfection. This restless desire to buck reality and return to a Garden of Eden state is what drives so much of what we buy into.
But if science, legitimised by the state, is offering ever-easier methods of screening out foetuses with different genetic conditions effectively implying, without actually saying so, that they are sub-optimal and should be aborted, what does it say about how we see those human beings who are already here?
The dilemma – and the pain for parents of children with Down’s- is very real. It pits two great human rights principles against each other: a woman’s right to choose against the rights of people with a disability to be treated as equals with dignity and respect. The first, it’s fair to say, almost certainly has a knock-on effect on the second.
Picture this scene: a mum is sitting in a park with a child who does not have Down’s and looks over at a mum with a child who does. Does she think: “I feel sorry for her. There but for the grace of God?”
The question is not rhetorical. We know that people with a learning disability are frequently shunned and pushed into leading lives that can lead to isolation, loneliness and even sometimes premature death.
Does the use of increasingly ‘efficient’ genetically engineered paths to the perfect, the flawless child make it harder for those who do not fit our idealised view of what a human being should be like, to be accepted and included?
DOWN’S: THE ‘OFFENDING’ CHROMOSOME
Perhaps we should begin at the beginning. In every cell in the human body there is a nucleus, where genetic material is stored in what are known as genes. Genes carry the codes that give us our inherited traits. They are clustered along rod-like structures called chromosomes.
Typically, the nucleus of each our cells contains 23 pairs of chromosomes, which come from our respective parents. Down’s – also known as Trisomy 21 – occurs when an individual has a full or partial extra copy of chromosome 21.
Down’s is not an illness and it cannot be cured, although some of its characteristics can be helped by targeted nutritional and other therapeutic interventions. But it can result in physical growth delays, characteristic facial features, and mild to moderate intellectual disability. Many though not all people with the condition are able to lead relatively normal lives.
Down’s was identified as a condition by Doctor John Langdon Down in 1862 but it was another century before the French geneticist Jerome Lejeune discovered its genetic causes in 1959. Lejeune is lionised as a hero of the pro-life movement because he defended the unborn lives of people with Down’s. He was hoping to find a cure.
Instead his discovery led, perhaps inevitably, in the opposite direction: a medical push to find ways of identifying the offending chromosome which in turn led to a surge in abortions. Conservative American newspaper columnist George Will has called prenatal genetic testing for Down syndrome not “a method for informing parents, but rather a search and destroy mission.”
SCREENING FOR DOWN’S: WHAT’S INVOLVED
There are two levels of testing: prenatal screening and prenatal diagnostic tests. Prenatal screening tests indicate only the probability that the child will be born with Down syndrome. The new test introduced in 2014 which is being rolled out by the NHS, has the ability 10 times more accurately to predict whether the foetus has Down syndrome than previous screening.
The next step is a diagnostic: chorionic villus sampling (CVS) and amniocentesis. These are almost 100% accurate. Amniocentesis is offered at 18 weeks and carries a risk of miscarriage. CVS is offered at 10 weeks, but it carries a higher 1 in 100 risk of miscarriage. The new NIPT test carries a very low risk to both mother and baby.
In 2016 the Royal College of Obstetricians and Gynaecologists poured fuel on the fire by ineptly calling for a ‘rigorous economic analysis’, including the lifetime costs of caring for those with the condition. In other words are people with Down’s worth the cost?
The percentage of abortions of foetuses that tested positive for Down’s in Europe and the USA – and therefore the number aborted – is hard to pin down with any great degree of accuracy. In Britain most studies suggest that up to 90% of all pregnancies diagnosed with Down’s prenatally are aborted. However over 30% of babies diagnosed with Down’s postnatally or at birth did not have a pre-natal test. This suggests that not all mothers or parents want to know or choose take the risk. In Iceland there is a virtual 99% take-up. Campaigner Sally Phillips has argued, that we are headed to a world without Down’s.
Jane Fisher, director of Antenatal Results and Choices, an organisation set up to support parents affected by foetal screening and its consequences, said she thought Phillips’ documentary – in which she is interviewed – was “not at all helpful” to people facing difficult decisions around a prenatal diagnosis of disability. This seems like an odd remark for a scientist whose life’s work is the pursuit of truth. The debate has become increasingly polarised and ideological.
A GRIM HISTORY
The pursuit of idealised or ‘normal’ human beings is inextricably linked to the shameful history of prejudice against people with intellectual disabilities. They were labelled “lunatics, insane, feebleminded, madmen, and idiots” not that long ago. In the 17th and 18th centuries hundreds of thousands of developmentally disabled children and adults in the USA and Britain were locked up in institutions without education, healthcare and in many cases basic plumbing. Parents were encouraged and sometimes coerced to lock up their children. They were told to forget about them.
In the first half of the 20th century most children with Down syndrome were placed in institutions right after birth. Doctors would typically tell parents that they would not be able to provide for the a child with Down syndrome. In some parts of Europe it still happens today. Photojournalist Graham Miller, has written about a couple who were told by the doctor who delivered their child born while they were in Czechoslovakia. “You are young. Go back home. Live your life. We will look after the baby”.
America was a pioneer of the eugenics movement. It passed laws in the mid-19th century preventing people with disabilities from moving to the U.S., marrying or having children. Eugenics laws led to the forced institutionalisation and sterilisation of disabled adults and children on a massive scale. In one famous case Dr. Harry Haiselden, a Chicago surgeon convinced the parents of a newborn with multiple disabilities to let the child starve to death instead of performing surgery that would save its life.
As late as 1927 the US Supreme Court in the case of Buck v. Bell ruled that it was not a violation of the constitutional rights of disabled people to forcibly sterilize them against their will. And then of course there was Hitler and Mein Kampf.
Britain is not without blame in the rise of the eugenics movement again paradoxically through the work of a giant of progressive evolutionary thinking – Charles Darwin. His masterpiece Origin of the Species is in many ways a manifesto for eugenics. Darwin wrote “We civilised men…. do our utmost to check the process of elimination; we build asylums for the imbecile, the maimed and the sick.. .Thus the weak members of society propagate their kind.”
WHAT PRICE PERFECTION?
This dismal history has a direct bearing on today’s debate around pre-natal screening. It underscores the tension between a fundamental human rights principle and a natural human impulse: the idea that all human being are created ‘free and equal in dignity and rights ‘ against the desire of those same human beings to achieve perfection.
The accusation levelled at the medical profession is that the condition is always represented as a ‘risk’ to be eliminated. Parents concede that getting the diagnosis in the first place comes as a shock and that life bringing up a child with Down’s can be challenging. Which is not the same, of course, as saying that if they could un-imagine their child they would.
Proponents of comprehensive screening on the other hand such as Deborah Driscoll, chief of the obstetrics department at the University of Pennsylvania, says that for couples that do not believe that they have the stamina, support of resources to raise a child with disabilities, testing creates a choice.
Prenatal screening she argues can also be a way of reducing anxiety in parents so they can prepare for the arrival of their child with Down syndrome. The argument, which has a certain logic, is that it’s in nobody’s interest to sugar-coat the reality.
There is a sense in which this debate imposes a false dichotomy. The fate of future mothers whose unborn child is diagnosed with Down’s does not or should not be a judgement on people with Down’s who have already been born.
The big problem with that argument is that people with Down’s indeed people with all disabilities, especially intellectual ones, face widespread, daily discrimination, often institutionalised despite legislative protection, which they and their families feel very deeply.
So what is to be done?
If choice is to be the bedrock principle then transparency has to be the way forward. Here are few ideas:
- Genetic counselling must present a thorough and accurate description of what life with Down syndrome is like to parents. This should include stories, films about both the challenges as well as the joys of parents with a Down’s child.
- They should be given a realistic picture about the quality of life for individuals with this syndrome. This of course is the contentious bit. What may seem like a limited life to some will be seen quite differently by others. A shining example of the latter is actor Frank Stephens who gave a moving presentation to the United Nations. His theme taken from the great civil rights movements was “I am A Man”
- Prospective parents should be given information about what support services will be available to them and their child.
- Terminology should be neutral and non-judgemental. This would include information about the health conditions associated with Down syndrome, such as increased risks of heart defects, dementia and obesity. It would also note that individuals with Down syndrome lead full and fulfilling lives, including opportunities to participate in higher education, join the workforce, live independently or in a communal setting like Camphill, Shared Lives or L’Arche where they have friends and meaningful work.
- Pre-natal advice would also point out that there may positive effects on families who have a child with Down syndrome, because like any child they will have their raising unique strengths and weaknesses.
This issue is complex. It is not suited to knee-jerk ideological solutions or legislation. It cannot be ‘resolved’. But neither should it become an ideological football.
A good start would be for the medical profession to take upon itself what must surely be its particular responsibility which is to develop a narrative that takes the heat out of the debate by being neutral.