03 October 2016
So far, so good. These facts are absolute, and the chance to reduce the levels of miscarriage by reducing the number of invasive procedures can only be a positive – the loss of any wanted pregnancy is a tragedy.
But what also needs to be considered by those championing the inclusion of NIPT in the NHS Fetal Anomaly Screening is the fact that NIPT increases the number of prenatal diagnoses of Down's syndrome, and that prenatal screening reduces the number of live births of individuals who have the condition if parents opt to end the pregnancy.
It has been argued that the RAPID, Reliable Accurate Prenatal non-Invasive Diagnosis, study shows that the introduction of NIPT 'may not significantly reduce the live birth rate' (1). However, the limited figures published from the UK National Screening Committee (NSC) study, would indeed appear to point to a numerical rise in diagnoses and subsequent terminations (2). The study not only revealed an increase in the uptake of initial screening, but also the extent of further screening and subsequent diagnostic testing.
Under the current screening programme, approximately 50 percent with a combined screening result of >1 in 150 chance of Down's syndrome do not have subsequent testing (1), but in RAPID this was only seven percent. So, although 87 percent of pregnancies with a positive diagnosis of Down's syndrome were terminated as opposed to the current level of 90 percent, there was a numerical decrease in live birth rates as individuals who might normally refuse an invasive test elected to have NIPT. Therefore, although the authors suggest that this is a lower rate of termination, it is unlikely to be of statistical significance.
Furthermore, the researchers are looking to offer NIPT to anyone with a combined screening result of >1 in 1000. Other studies, eg. REFLEX, automatically send bloods for NIPT testing where the combined screening result is >1 in 800 (3).
Undoubtedly this satisfies the opportunity for reproductive autonomy that proponents of NIPT argue is crucial. Parents receiving a positive diagnosis are then able to decide whether to continue with their pregnancy. Only the staunchest few opponents to either termination or prenatal testing would seek to deny parents this option, but here is where NIPT does indeed raise new ethical concerns.
Is there a point where the cumulative effect of individuals choosing not to continue a pregnancy, because the baby will be born with Down's syndrome, crosses a threshold of ethical acceptability? How can it be acceptable that the elimination of people with Down's syndrome may become a reality?
We have seen this cumulative effect in countries like Denmark and Iceland (4). Could this become reality here? What will the implications of this be for any parents who opt to continue a pregnancy with a diagnosis of Down's syndrome? What will the implications be for individuals born with Down's syndrome or the current Down's syndrome community? This social experiment could have far-reaching implications, and there has not yet been sufficient consideration of these. While it might be appropriate to offer parents equitable access of an optimal testing strategy through the NHS, it would be ethically questionable to proceed without attempting to first understand the potential long-term effects.
The UNESCO International Bioethics Committee calls on states and governments to 'develop a framework that on the one hand acknowledges the right of an individual to make autonomous choices, and on the other ensures ... that no one shall be subjected to discrimination based on genetic characteristics and that individuals should be respected in their uniqueness and diversity' (5).
But how do we create that framework? In their recent article, Fisher and Chitty talk of possibly mitigating concerns about NIPT by rolling out the programme in a 'cautious way', and reference the education and infrastructure required to support it, which is one step to addressing concerns about this enhanced screening programme.
However, as it stands, it is unclear how this infrastructure will be delivered. The UK NSC analysis looked only at the cost-implications of including this test against the reduced number of invasive procedures. It did not consider the regulatory environment, the need for improved counselling for parents prior to embarking on NIPT, or even the need to increase access to appropriately qualified counsellors and upskill those administering the programme (6).
Furthermore, far from the assertion that 'women [considering their pregnancy choices] are neither coerced nor ill-informed and they act autonomously', the Down's syndrome community can evidence many anecdotal examples of the medical profession presenting outdated viewpoints of the condition (2). It is also not uncommon to hear of women who, in the same consultation that they have received a positive diagnosis, are also told that a termination has been booked for them, should they wish to go ahead.
This apparently commonplace behaviour within the medical fraternity is not only disrespectful of individuals with Down's syndrome, but also of the prospective parents. It has been shown that pathological grief is particularly high in women who terminate a wanted pregnancy for medical reasons, and this is exacerbated if parents do not receive appropriate support during the decision-making process. Genetic counsellors are trained to guide parents in a manner that enables them to make decisions appropriate to their personal and family situation, and yet genetic counsellors are rarely involved in prenatal screening for Down's syndrome and are in short supply in the UK.
Parents who choose to terminate do not, of course, consciously act out of discrimination but from fear of the unknown and a deep-seated attitude that is borne out of centuries-old discrimination against individuals with learning difficulties. But times have changed, even if wider attitudes beyond the Down's syndrome community haven't quite caught up; and the 21st century offers a very different narrative for those living with Down's syndrome.
A 2011 study found that 99 percent of people with Down's syndrome are happy with their lives and that 79 percent of parents of children with Down's syndrome felt that their outlook on life was more positive because of their child (7). Certainly the introduction of early intervention programmes, access to improved healthcare and mainstream schooling means that the majority of children with Down's syndrome in the UK will attend a mainstream school, sit exams, enter the workplace and go on to live independently with minimum support.
This is a stark contrast to when screening for Down's syndrome was first developed in the 1960s, and children with the condition were largely institutionalised, meaning that many never fulfilled their true potential. The introduction of a prenatal screening test, based upon the cost savings made by avoiding affected live births (8), perhaps did not feel as uncomfortable then as it does to some now?
The Government's response to the UK NSC recommendations has the potential to define the future society in a manner only seen previously by the initial introduction of prenatal screening, but the voices of those families and individuals with Down's syndrome need to be heard to ensure that the obligations outlined by UNESCO will afford them the necessary respect.
Victoria is a geneticist and campaign manager for Future of Down's, an online community for life with Down's syndrome in the 21st century. She is also a mother of two girls – the youngest of whom has Down's syndrome.