FAQ – Frequently Asked Questions on cfDNA/NIPT screening & the Don’t Screen Us Out campaign

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:

A lack of clarity in communicating the diagnosis or prognosis of fetal disability – Parents are often not communicated to sufficiently so that they understand the nature of pre-natal test results, or their implications. Down’s syndrome in particular, represents a spectrum of outcomes, and this could be much less severe than parents might expect.

A presumption of the medical profession that they would opt for abortion – Parents reported being actively encouraged to abort their disabled children as late as 35 weeks into pregnancy, with the expectation that they ‘should’ do so, and told that having such a child would be a burden on them.

A lack of information and support for the option of bearing and raising their child with a disability – Connected to the presumption of abortion was a provision only of information on termination and plenty of support or advice on having one. What is seldom if ever provided is a support package, information on the support that is available for parents of disabled children, or information about their child’s specific condition (including practical and balanced information as to how children with specific disabilities can be cared for and how their parents can be supported). This is especially burdensome on women and parents at a time of great distress, with an impression that there would be support for abortion, but none for choosing to keep the baby.

A lack of information about potential adoption – Very few parents are presented with adoption as a possible alternative. Nor is the possibility presented of a concurrent foster placement from birth, which would give parents time to make a decision regarding their involvement with their child’s upbringing.

A lack of information about and provision of palliative care for newborn babies – Parents who are pregnant with a child with a life-limiting condition have often been unaware of palliative care as an option when considering continuing with a pregnancy, even though studies have indicated that more parents choose to continue with their pregnancy when access to hospice care for their child is made available. The limited availability of perinatal hospice provision and access to paediatric palliative care as a specialism is also an issue.

These medical deficits are profound, and encourage the outcome of screening to be the ending of the lives of disabled children rather than their support and flourishing.

This is not in keeping with the UK’s obligations under the Convention on the Rights of Persons with Disabilities (CRPD), which entail that people with disabilities and their families should be accommodated, included, and supported by society. Specifically, if the UK were to be in keeping with the CRPD, it would respect its requirement for signatories, rigorously and analytically:

To monitor the effects of antenatal screening on population numbers, including reductions in population. In the context of disability-selective antenatal screening policies, States must ensure that such policies do not have the impact of reducing the base population and, thereby, impacting the purpose of the CRPD which is to ensure the participation and inclusion of persons with disabilities in society.

To ensure that disability-specific screening policies are not implemented to avoid prospective demand on public resources. E.g. to reduce births of people with specific disabilities in order to reduce costs of ongoing care of people with these disabilities.

To render appropriate assistance to prospective parents to facilitate their child-rearing responsibilities. Within the context of disability-selective antenatal screening policies, assistance to prospective parents must be consistent with the CRPD, including its principles, and must be reflective of the social model perspective of disability.

To implement the right to information in a manner that provides full and adequate information to facilitate informed decision-making in health care contexts. Accordingly, disability-selective screening policies must, insofar as they impart information to prospective parents, conform to the general principles of human rights, including respect for dignity (including the dignity of individuals living with Down’s syndrome and their families).

To undertake awareness raising measures to undo negative social constructions of disability in health policies. States fail to respect, protect and fulfill human rights if they support or acquiesce in policies that reinforce harmful stereotypes about persons with disabilities grounded in widely discredited assertions about quality of life. Inasmuch as researchers have noted that sex-selection leads to invasive medical interventions in the absence of therapeutic indications and contributes to gender stereotypes that could result in child neglect of the lesser-desired sex, so too does disability-selective screening pose risks for the kind of stereotyping that the CRPD aims to combat.

Therefore we are asking that the following be implemented:

1/ A full ethical review be undertaken of the current state funded Fetal Anomaly Screening Programme and the proposed addition of cfDNA screening
To ensure that the programme is consistent and compliant with the CRPD and wider human rights obligations.

2/ Improved training and guidance requirements for medical professionals

To ensure that doctors,obstetricians, gynaecologists, genetic counsellors, midwives, and anyone else providing care to parents receiving prenatal testing presume a desire by them to be supported in any choice, especially to bear and raise children with disabilities, and are able to both clearly communicate a balanced information on a particular disability and provide subsequent necessary support to them. This would include the updating of materials (including the use of neutral terminology, e.g. ‘chance’ rather than ‘risk’ etc.) used to deliver informed consent. This should also include the availability leaflets or other information written by relevant disability groups being made available. Parents should be also be offered contact with families with a child with a similar diagnosis without delay. If parents choose to terminate the pregnancy, a third signatory should sign the abortion form confirming that the family has the correct information and support to make an informed decision and can confirm that the abortion meets the criteria under section 1(1)(d).

3/ The ready and accessible provision of every needed support for parents who choose to continue their pregnancy

This would include information about their child’s disability and how to care for their child, and the support that is available from the NHS and local/national groups for parents with their child’s condition. It would also mean the proper provision of such assistance, and other forms of psychological and group support for parents who experience any longer term challenges and early introduction to people experienced in caring for children with such conditions.

4/ The provision of information about adoption services and short-term concurrent foster placement from birth

Parents should be encouraged and supported to consider adoption for their child as a positive option. This could also include the development of an Adoption Register to ensure swifter matching of babies with disabilities to adoption families.

5/ The provision of information about and provision of palliative care for babies with a life limiting disability

Perinatal hospice care, and an expansion of paediatric palliation as a specialism.

Following the implementation of the above, if NIPT is implemented, standard care guidelines should be updated to include the following:

The inclusion in the pregnancy care pathway of an appointment prior to undertaking NIPT – This would be solely for the purpose of providing adequate informed consent, would be ring-fenced from any other procedures/examinations relating to the pregnancy unless serious concerns are raised by the mother, and preferably include both parents. Such an appointment would be necessary to ensure appropriate counselling in relation to potential results and implications of those results.

Before we detect more children with Down’s syndrome, or those with any disability, we need to make sure that our screening programmes and healthcare practices are in keeping with the CRPD and our ethical obligations to people with disabilities. The right reforms need to be put into place that reduce or remove eugenic discrimination against babies with Down’s syndrome and other disabilities.

When these reforms are achieved, and anti-disabled discrimination is avoided, new screening techniques can be implemented as an uncomplicated benefit. Whilst they enable eugenic practices however, and affect the community of people with Down’s syndrome so negatively, to introduce them formally into screening programmes would be an unethical violation of disabled rights.