As Learning disability nurses, we care for people across the lifespan and we do so with a strong emphasis on rights, choices and inclusion.  We work collaboratively with a range of professionals, carers, family and most importantly people who have learning disabilities to ensure that the care we provide has their needs at the heart.   The WeLDNurses network regularly demonstrates the diverse range of roles that people play in the life cycle of people with learning disabilities and the many areas that we work within. But what about before the person is born? 

WeLDNs has had the pleasure and honour of hearing the Goleniowska family speak on a number of occasions, including Mia and Natty herself (and fab they all are, too!). Hayley speaks passionately about the role of professionals in setting the scene for the life of a person with down’s syndrome, or sadly on more occasions than we would like, the decision to terminate.  The passion with which Hayley portrays this message inspired one of the WeLDNs team to study this topic for their dissertation. The literature was vast and the majority of studies showed the same results, when down syndrome is detected prenatally, only around 6% are recorded as live births.  This is an astonishingly low number of births, particularly considering that studies of both families of people with down syndrome and people who have down syndrome themselves state that they live a happy and fulfilling life, we see people with down syndrome who run their own businesses, who are successful models, actors, musicians, bloggers and campaigners, living highly successful and enjoyable lives, many independently and we have recently seen birthday celebrations for people in their 70’s!

We know that this is a highly emotive topic, and here at WeLDN’s we recognise the rights women and families have to make choices, after all this is central to our core method of practice.  However, choices go hand in hand with words such as ‘informed and balanced’.  Many of the research papers and published data reviewed suggest that women are not being given balanced information, and despite the NICE guidelines and recommendations for support to be given to families during the time a diagnosis is identified, women are still being told by telephone and many are offered no support at all, with only leaflets being provided with a range of co-morbidities documented.  However, research does show that the professionals that are involved in this process want to do more and recognise the need for additional support. Campaigns such as ‘Tell it Right, Start it Right’ are engaging with these professionals to increase the level of support and balance of informatio ngiven to new and expectant women to ensure they are able to make an informed choice,as without the right information, the choice cannot be appropriately informed.  There were a number of studies and guidelines (Bruce, 2013) that recommend a specially trained professional in this area should be involved in this process – does this sound like a professional we know?!?

All of these issues have existed for the past decade, whilst our screening process has been developed and changed along the way, however, a recent development in screening has opened up a further ethical issue, one which alongside the issues already raised, could have a profound impact on the decisions made by parents in the future.

Non-Invasive Prenatal Testing (NIPT) has been developed as away of testing for certain genetic conditions by checking the level of certain serum markers in a maternal blood test. This presents no risk to the unborn baby and is thought to be around 98% accurate with a very low false positive rate. It is worth noting that under the current guidelines, this is still not classified as a diagnostic test, with invasive testing still being required to provide a diagnosis.  However, invasive testing has a risk factor attached, there is a possibility of miscarriage and as the screening tests only provide a probability result, many parents are reluctant to put their child at risk on the strength of a possibility. 

There are growing concerns that the increased accuracy level of the NIPT will give people a sense that this test can replace the current invasive diagnostic tests and as such have a further impact on the number of people with down syndrome born, in 2012 689 people with down syndrome were born, many of these will have had no diagnosis and may not have had any screening, perhaps the probability was deemed too low to risk the invasive testing.  The issue that many are raising now is what if this new test becomes readily available?  What will this mean to the Down Syndrome community? What does the heralding of an innovation like NIPT say about our society and what is ‘normal’ enough to accede?  We have seen growing online campaigns such as ‘Don’t Screen Us Out’ attracting national coverage with a range of interviews recently including a radio interview with Sally Phillips, an actress known for her roles in Bridget Jones Diary and Miranda, who has a son, Ollie, with Down Syndrome.  Sally spoke beautifully of her son and his life and bravely about her experiences as a parent and of diagnosis, challenging the screening council to consider these issues before making any decisions. Click here to watch the BBC radio interview.

There are clear ethical issues surrounding this topic and we, as a group of people with a professional and personal interest, have an opportunity to input to some research being conducted by the University of East Anglia looking at the use of NIPT and the wider implications on society, particularly for people with learning disabilities.

So, this is our client group.  We have good links with other professionals and work well within teams, so what scope does the role of the learning disability nurse have in diagnosis and from birth?  If the people we care for are feeling vulnerable around this subject, it is our responsibility to advocate for them and support them to have their voice heard. How can we make sure choices are informed and support provided meets the needs of both the parent and the child? We know that early experiences shape a persons life and parent-child relationships effect development, so how can we ensure that we help to shape the way this is done to improve the quality of life that the people experience?  Language and terminology have a big role to play here #wordsmatter and we are at an important junction where we can help make a difference to the future of life experiences for people with down syndrome as well as people with a learning disability.

Join us on the 24/5 at 20:30 to share your thoughts and to help put together some views to submit towards the research.

Ross Wyatt @ross_6479

Sally Wilson @salsa442

Daniel Marsden @dmarsden49

Further Reading

Bruce, F. (2013) Parliamentary inquiry into abortion on the grounds of disability, London: House of Commons.

Gordon, O (2015) Living with Down’s syndrome: ‘He’s not a list of characteristics. He’s my son’ available ar

http://www.theguardian.com/society/2015/oct/17/living-with-downs-syndrome-hes-not-list-characteristics

Don’t Screen us Out http://dontscreenusout.org/

Downs SideUp. Campaigns for Change  http://www.downssideup.com/p/campaign-for-change.html

Down’s Syndrome Association.  About Down’s Syndrome: Tell it Right, Start it Right, http://www.downs-syndrome.org.uk/about/campaigns/tell-it-right-start-it-right/

Marsden, D. (2015). ‘Great news on Down’s syndrome screening?’ Nursing 4 the future, 6th June, http://nursing4thefuture.blogspot.co.uk/

National Down Syndrome Cytogenetic Register for England and Wales (NDSCR) (2014), 2012 Annual Report,London: NDSCR.

National Institute of Health and Care Excellence (NICE) (2008), Antenatal care for uncomplicatedpregnancies, London: NICE.

NHS Rapid Project (2014), NIPT for Down Syndrome.  www.rapid.nhs.uk/guides-to-nipd-nipt/nipt-for-down-syndrome/

http://www.dailymail.co.uk/debate/article-3580118/Would-world-better-place-without-people-like-daughter-DOMINIC-LAWSON-likens-new-test-s-Syndrome-State-sponsored-eugenics.html