Down syndrome: changing the language of “risk”

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:

• Down Syndrome Australia’s prenatal resources. Information at this link includes tip sheets for GPs, fact sheets on prenatal testing for Down syndrome, and an expectant parent guide;
• How do you see me video; and
• Dear Future Mum

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.