NON-invasive prenatal testing (NIPT) has been available in Australia on a user‐pays basis since 2012. Since its introduction, it has grown in popularity as a screening method for genetic characteristics including chromosomal aneuploidy (eg, Down syndrome, Edward syndrome, Patau syndrome and Turner syndrome).

NIPT has advanced quickly in the marketplace with a strong push from industry developers, leaving many areas of uncertainty still to be resolved (here and here). Nevertheless, NIPT is currently under consideration for addition to the Medical Benefits Schedule.

As a researcher and mother of a 19-year-old daughter with Down syndrome, and as a registered nurse and midwifery student and sister to this same 19-year-old, we wish to share some thoughts on this ethically complex technology, and to identify possible areas for action.

We respect the right of women to undertake prenatal screening, if they choose to do so, and to make decisions about whether to continue a pregnancy based on their own circumstances and beliefs. We hold a strong belief in bodily autonomy and control, and this includes ensuring women have correct and balanced information about Down syndrome to guide their informed consent.

Many mothers of children with Down syndrome would consider using NIPT if they become pregnant in the future, or would recommend NIPT to a pregnant friend, and studies show women are generally positive about having access to NIPT. The focus of this article is the need to provide screening for Down syndrome in a balanced and objective manner.

Although Australia’s Antenatal guidelines clearly state the need for pre-screening information and counselling, including provision of up-to-date information about Down syndrome, there is a known gap between evidence and practice. Research (here and here) and personal experiences suggest that many families are not currently getting the information and support they need to make informed choices.

Jodie: I sensed during pregnancy that something was different with my third child. I was 26 years old. During pregnancy the verbal information I received about Down syndrome was, in retrospect, biased and overly negative, and in no way prepared me in a positive way. I received no other information beyond the possible birth defects and medical problems. There was a prickle of foreboding when Alice (she has consented to be named) was born, and immediately afterwards, I observed the midwives’ and doctors’ reactions, whispers and expressed concerns about the future. I am not alone in this experience; it is one commonly expressed by parents of children with Down syndrome.

This scenario raises questions about the circumstances in which parents make decisions in the face of abnormal screening results, and the role of pre-test and post-results counselling, education and resource provision by health professionals in facilitating those decisions.

Fast-forward 19 years and Alice lives an enormously rich life, working at a popular local café as a waitress, dancing and socialising with her friends. She has enriched our lives and the community. The advent of the National Disability Insurance Scheme has also brought the prospect of many more opportunities for Alice over the course of her life. I don’t want to sugar-coat the challenges, but then, all my children have had challenges.

Given the full lives that Alice and other people with Down syndrome can have these days, we are concerned that some families may make decisions about their unborn children based on negative community attitudes that are inaccurate, or on outdated information about Down syndrome.

The first thing we can do is transform the discourse from “risk” to a “chance” of having a child with Down syndrome. The term “risk” to describe the likelihood of Down syndrome is both negative and outdated. Most children with Down syndrome are included and valued in their communities and the majority of people with Down syndrome report having a high quality of life (here and here). Although we have guidelines pointing to more neutral terminology such as “chance” or “probability”, the language of “risk” endures.

A case in point is the most recent edition of a popular Australian book about pregnancy. The portrayal in the book about Down syndrome was not consistent with our experiences as a mother and sister. The CEO of Down Syndrome Australia, Ellen Skladzien, was prompted to write an open letter to the author explaining that:

“The use of the term ‘risk’ to describe likelihood of a diagnosis of Down syndrome is inappropriate and outdated. In 2016, Tasmania’s Anti-Discrimination Commissioner found the use of negative language in a Down syndrome diagnosis could breach the Anti-Discrimination Act. It has prompted a change in the national guidelines for prenatal testing. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists guidelines now point to more neutral terminology like ‘chance’ or ‘probability’ … As it stands, this edition … contributes to a culture of misinformation, stereotypes and discrimination which negatively impacts the Down syndrome community while making it difficult for women to make informed decisions.”

Will these persistently negative portrayals lead to a decrease in social acceptance of people with Down syndrome, and a corresponding decrease in social support and services for those who have Down syndrome and their families? What can medical professionals do to counter such attitudes?

The assertion that medical professionals provide biased information about Down syndrome prenatally is not new, but there are little data objectively assessing what information is communicated in a prenatal setting after a diagnosis of Down syndrome is made. A series of workshops conducted by Hodgson and Weil (2012) investigated the obstacles reported by genetic counsellors when discussing the nature of Down syndrome in a prenatal setting. Counsellors reported lack of confidence in their own skills, and lack of knowledge regarding parenting a child with a disability.

We acknowledge the challenging role health professionals have in attempting to balance support for clients’ autonomy and reproductive freedoms while still advocating for people with disabilities and their families. However, the principles of social justice require that misconceptions are corrected, and families are provided with unbiased information about what life might be like with a child who has Down syndrome.

We advocate for up-to-date and balanced discussion describing both the medical and social aspects of Down syndrome, and for health professionals to recognise their own biases. GPs, in particular, need to play a key role in providing women with information that helps them make informed decisions about screening and in providing improved feedback and support after the results are received.

In short, what is needed is:

  • balanced training and education for midwives, doctors and genetic counsellors about Down syndrome;
  • improved access to pre- and post-screening counselling;
  • development of a public awareness campaign to tackle biased or unbalanced community attitudes about Down syndrome and intellectual disability; and
  • regular monitoring of the experience of women having prenatal testing and refining best-practice approaches based on this evidence.

Here are some resources that GPs may find useful:

Jodie Bailie is a research fellow (evaluation) based at the University of Sydney’s, University Centre for Rural Health.

Jasmin Boscheinen is a registered nurse and midwifery student, at the University of Technology Sydney.

 

The statements or opinions expressed in this article reflect the views of the authors and do not represent the official policy of the AMA, the MJA or InSight+ unless so stated.

13 thoughts on “Down syndrome: changing the language of “risk”

  1. Bridget Wickert says:

    Hi Jodie
    Thanks for sharing this great article, well done to you and Jasmin
    It, the article, certainly raises some great points.
    Having worked in the disability sector for 35 years I have met & seen many people living with downs syndrome living full and productive lives.
    I have also met many people who’s parents are of the generation where it was suggested their son or daughter be institutionalized and segregated, in “special” everything and they appeared to have their life mapped out to not amounting to much which is terribly sad for all concerned: the person and their family and community
    I believe it is a shift in thinking/mindset that is needed and informed choice & you have certainly highlighted this

  2. Lisa McHugh says:

    What a terrific article Jodie & Jasmin,
    It is so true, each child is an individual with their own challenges and joys…

  3. Annabelle Shannon says:

    Hi Jodie and Jasmine
    I really appreciate your article especially as a former GP obstetrician when the attitude was very negative about having a baby with Down’s syndrome which always made me sad. I am so glad you are educating our next generation of GPs

  4. Suzanne Blogg says:

    Thanks Jodie and Jasmine,
    This is a great article and knowing Alice she does indeed enrich the lives of those around her. Language can be insensitive and even hurtful when referring to these conditions in such a negative way. It is wonderful how much things have changed and continue to evolve with articles such as this one

  5. Elizabeth Callinan says:

    Such important messages and perspectives you bring to the careful thinking that needs to accompany the wider use of prenatal screening. Thank you both for writing this.

  6. Anonymous says:

    I am a midwife and sadly many of my colleagues push parents to have screening tests and use negative language . I am pro life and try really hard to give the parents the information and let them make up their own mind . I have to make a real effort to not push my own view but some of the obstetricians I work with make it clear that they see parents who decline testing as irresponsible.

  7. John Obeid says:

    It seems like we are saying to people with Down Syndrome that it is perfectly fine for prospective parents to kill them before they are born. How can we be surprised at the “persistently negative portrayals (that) lead to a decrease in social acceptance of people with Down syndrome” if we say that it is perfectly fine for them to be slaughtered in utero? If we want to stop the negative portrayals and general rejection of people with Down Syndrome, try stopping the “legal” mass extermination.

  8. Anonymous says:

    I am the mother of a 6 year old girl with Down Syndrome. We were found to have a ‘high risk’ of her having DS at 20 weeks pregnant. We received what I would consider neutral opinions but very little information. So we asked to speak to a paediatrician – he began our visit by reading a chapter on Down Syndrome from a text book from the 1960s – something about always happy. He then went on to tell us all the things that could go wrong and all the medical issues that might happen. Not one mention of her going to mainstream school and dancing at a mainstream ballet class or learning how to swing herself. Nothing about what our life would really be like with her in it.
    The medical community has a long way to go to balance this new test with up to date current and non-biased information.
    There is a great Facebook group called 321 pregnancy care for mum’s who have received a higher chance or a confirmed diagnosis.

  9. Ali says:

    HI Jodie!

    This article is fantastic and so needed. As someone who has befriended and worked with so many young people with Down Syndrome I can say safely that it really is a mindset shift that our communities need to embrace. You’re right, this idea of ‘risk’ as opposed to ‘chance’ is so outdated, like so many of our other misconceptions and unconscious biases towards people with disabilities. The world is evolving so should our mindset.

    Thank you for sharing, I would love to be more involved in the third point you mentioned about what is needed: development of a public awareness campaign to tackle biased or unbalanced community attitudes about Down syndrome and intellectual disability!

    Alice is such an awesome, empowered young woman, like myself, just living our lives doing what we love!

  10. Erena Wraight says:

    Thank you. I have been trying to formulate many of these points for NZs Screening Unit. I will share this with them. Also the term Best Practise has come to mind in the sharing of researched data on quality of life with DS. That it is a tragedy to make the decision to terminate based on false and inaccurate predictions of the babies future.
    Thanks again

  11. Sundaram Subbaram Sundar OAM says:

    We are living in such world in Australia with peace and harmony with ups and down. Such important meaningful messages and perspectives you bring to the careful thinking and analicing that needs to accompany the wider use of prenatal screening. Your suggestions are great. Thanks for sharing with Us

  12. Evelyn Scott OAM says:

    Thanks for the great article. It articulates well the lack of compassionate, clear and critically needed support when a diagnosis of Down syndrome is discussed. We all have our faults and failings, some we are born with and some we acquire. Don’t we all bring value to the human race? None of us have the right to make critical decisions for others in this context, and the commercial push for mandatory testing should be recognised for what it is: an opportunity for the NIPT producers to create a profitable market.

  13. Corrine says:

    Thank you for this wonderful article. I have also read a book called Greater Expectations, living with Downs syndrome in the 21st century by Jan Gothard. One of the authors children has Downs and she has written this very insightful book with many interviews of other families who also have a child with Downs Syndrome

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