The UK National Screening Committee (NSC) is recommending a new test for pregnant women that will detect a higher proportion of fetuses with Down Syndrome. The test is non-invasive and makes use of cell free DNA from the fetus (cfDNA) circulating in the mother’s blood. It is far more accurate than present early pregnancy screening tests for Down’s, meaning there would be far fewer false positives and far fewer women would have to go forward for invasive tests to confirm the condition – procedures that may result in the inadvertent miscarriage of a healthy fetus.
On the surface it looks like a valuable addition to the screening protocol so why is the organisation Saving Downs so opposed to its introduction? The study quoted by NSC predicts that the cfDNA test would detect an additional 102 babies with Down Syndrome every year. Allowing for the reduced number of inadvertent miscarriages (down by 25), and on the basis that 90% of women in such circumstances will choose to abort, this would lead to an overall increase in fetal loss of 66 per year.
This outcome is in conflict with The Convention of the Rights of Persons with Disabilities (CRPD), signed by the UK in 2007. The convention requires health policies to respect the inherent dignity of persons with disability, to be non-discriminatory, to enable full and effective participation and inclusion in society and to accept and respect the difference of persons with disabilities as part of human diversity and humanity.
The NSC Review recognises that if the test was to be used as part of primary screening, and not just offered to those shown to be at risk by the existing early screening protocol, it would lead to the detection of an additional 289 affected babies and 5,711 fewer invasive tests annually. However, they ‘were concerned that this represented a large opportunity cost and that these resources might be better used by the NHS’. It seems clear that the threshold of risk they advocate is based, not on health issues but on finding a cost-neutral way to introduce the new test.
But these figures could become the tip of an iceberg. The same technology permits the detection of gender and a wide range of genetic ‘conditions’ and predispositions. Where cultural prejudices preferring a male child exist, the risk of selection based on gender would be increased, a practice that is against ethical values of equality and non-discrimination.
A widespread use of such testing to analyse more and more genetic features would produce a mass of complex data including a significant increase of false-positives requiring confirmation by invasive tests of abnormalities whose relevance is not known at all. The anxiety generated for parents would be immense and, desperate to minimise risk, many would opt for invasive procedures with a resulting increase in the number of inadvertent miscarriages. The very test that should precisely be diminishing the use of invasive diagnostics would have led, paradoxically, to an increase in their use.
Search and Destroy
The language of ‘screening’ suggests that tests are intended to uncover conditions for which appropriate therapy or watchfulness will then be made available. In the case of Down Syndrome, the only ‘therapy’ on offer is to terminate the life of the fetus. The World Health Organisation screening guidelines require that ‘there should be a treatment for the condition’. Prenatal screening for Down’s provides no benefit to the fetus – most will be aborted. To assume Ground E provision of the UK Abortion Act should automatically apply to Down Syndrome is to stretch the law to the point of completely misshaping it. It implies that the life of a person with Down’s would have been better terminated before birth – a life not worth living. Ultimately, it fosters in society the notion that only the (genetically) perfect are acceptable and that it is socially desirable to prevent people with disabilities from being born. Yet many people with Down’s live into their 50’s and 60’s, finding fulfilment and contributing greatly to family and community life. Research published in the American Journal of Medical Genetics found that nearly 99% of people with Down Syndrome are happy with their lives, more than three-quarters of parents of a child with Down Syndrome had a more positive outlook on life and almost 90% of siblings said they considered themselves better people because of their family member with Down Syndrome.
The notion of ‘screening in order to eliminate’ has sinister undertones. The UN International Bioethics Committee comments: ‘The widespread use of genetic screening and in particular of [the new test]NIPT may foster a culture of “perfectionism” or “zero defect” and even renew some “eugenic trends”, with the consequence that it could become more and more difficult to accept imperfection and disability as a part of normal human life and a component of the diversity we are all called on to acknowledge and respect. The right of an individual to make autonomous choices is to be made consistent with the right not to be subjected to discrimination or stigmatization based on genetic characteristics and the duty to respect every human being in her or his uniqueness’.
’He’s everything I wanted my son to be.’
The possibility that raising a child with Down Syndrome could be a positive, life-affirming experience is nowhere mentioned in the NSC review. The assumption appears to be that everyone will want to terminate the pregnancy as soon as they get the screening results – that parents and families will be damaged by having a disabled child, and that this damage can be limited through abortion. But this is not supported either by research or by anecdotal evidence.
Caroline, mother of three including Seb, the oldest at 7 years and with Down Syndrome (DS), remembers his first smile at four months:
’I realised he’s not a list of characteristics in a textbook; he’s my child. He’s everything I wanted my son to be.’
Karen Gaffney, herself with DS, giving a TEDx talk entitled All Lives Matter, said she is wary of the race to “find newer, faster ways to test for Down Syndrome before birth” when the past 40 years has seen doors opened for a new generation of people with Down’s to have an education and become valued employees, accomplished artists and sportspeople. Some of those inspiring stories can be found here, here and here.
Reflection before decision
Of course, caring for a child with Down Syndrome is challenging and calls for sacrifice – as does all parenting – but terminating a pregnancy for fetal disability is also not without cost. People do not easily ‘get over it’. It can prove an emotionally traumatic major life event which leads to severe post-traumatic stress response and intense grief reactions that are still detectable some years later. Provision for informed ‘reflection before decision’ should be a statutory requirement. This should include the opportunity wherever possible to talk to someone with that diagnosis or a similar condition, a family who has a child with that diagnosis or a similar condition. We should not underestimate the coercive power present in a system where a conveyor belt of expectation moves in the direction of choosing not to give birth to children with special needs who are regarded either as a burden or as, in some sense, not fully human.
The Christian ethic calls the strong to make sacrifices for the weak, recognises and respects the value of every person, regardless of ability or disability, and energises the virtues of patience, perseverance and altruism. Caring for children and adults with special needs fosters compassion in the community, a more sacrificial society – a prize beyond price.