What is cfDNA screening, and why is it being proposed?
The UK has a series of screening programmes that attempt to detect medical conditions in various parts of the general population. One of these programmes is the Fetal Anomaly Screening Programme (FASP).
Through the FASP, pregnant women are offered a ‘combined test’ between 10 and 14 weeks of pregnancy to determine the chance that their unborn baby has Down’s, Edwards’s or Patau’s syndrome. This initial tests are not ‘diagnostic’ – that is, they do not give certainty as to whether a baby has a fetal abnormality – if the ‘combined test’ indicates a high chance of the unborn child having one of these disabilities, a further invasive diagnostic test is offered. These involve a fine needle being used to derive and test amniotic fluid (amniocentesis) or a piece of the placenta (chorionic villus sampling). Such tests carry the risk of miscarriage.
The national body that regulates these programmes, the UK National Screening Committee (UKNSC), is recommending that a new non-invasive prenatal screening technique (or ‘NIPT’) called ‘cell-free DNA’ (cfDNA) testing be introduced into the FASP. This technique works by analysing fetal cells in the mother’s blood, and genetically analysing them for signs of fetal anomalies. The UKNSC has recommended that cfDNA testing is introduced as a second line screening measure following the current combined test.
The UKNSC also commissioned a pilot study by RAPID (Reliable Accurate Prenatal non-Invasive Diagnosis) – a five-year UK national programme funded by the National Institute for Health Research (NIHR) – which concluded that if implemented into the FASP, cfDNA would lead to 102 more babies with Down’s being detected every year. The same study also predicted 25 fewer miscarriages every year due to invasive tests, as a consequence of fewer women opting for such procedures due to the greater confidence they received through a positive cfDNA result.
What is wrong with implementing cfDNA into national screening?
The latest figures tell us that 90% of babies who are prenatally diagnosed with Down’s syndrome are aborted. If then, as the UKNSC pilot study predicted, 102 more babies with trisomy 21 would be detected due to cfDNA implementation, 92 of these are projected to be aborted. Based on the most recent figures for Down’s births (2013), this would mean a decline of 13% reported live births of babies with Down’s syndrome.
This will have a profound long-term effect on the population of the community of those with Down’s syndrome and their families, and enable a kind of informal eugenics in which certain kinds of disabled people are effectively ‘screened out’ of the population before they are even born.
Implementing cfDNA screening at this stage would effectively mean introducing a worsened form of informal eugenics into our culture, particularly as a public perception that screening is now ‘easier’ may lead to a societal view that there is a duty to screen.
What’s Don’t Screen Us Out’s alternative, then?
Primarily, we are proposing that the cfDNA test should not be implemented into the UK Fetal Anomaly Screening Programme at this stage. Given the state of the medical system as it currently exists, cfDNA would only worsen the culture of informally eugenic anti-disabled discrimination that exists in our current screening programme.
As a recent report of the International Bioethics Committee (IBC) of the United Nations Educational, Social, and Cultural Organisation (UNESCO) has pointed out, “[t]he potential ethical disadvantages of NIPT can be summarised as routinisation and institutionalisation of the choice of not giving birth to an ill or disabled child”.
This delay would be in order to address the medical and social conditions that enable abuse. In 2013, an ad hoc Parliamentary Inquiry found that many parents, upon receiving a diagnosis of fetal disability, are presented with the following problems: