Confronting the Distortions: Mothers of Children with Down Syndrome and Prenatal Testing

Lisa Bridle (Australia)

Prenatal diagnosis represents the most immediate and widespread application of the current explosion of genetic knowledge and technology.   Genetic testing is available for more than eight hundred genetic conditions (Boyle and Savulescu 2003), though the practical application in the prenatal context is more limited.  Prenatal screening and diagnostic tests are frequently understood as “tests for Down syndrome”.  Screening tests, particularly the introduction of nuchal translucency ultrasound and maternal serum screening, are now well-established, and testing is no longer limited to women considered “high-risk” but is a routine part of all pregnant women’s antenatal care.    The major diagnostic tests remain diagnostic ultrasound, amniocentesis and chorionic villus sampling (CVS) (Powell 2000), but the development of new laboratory methods for analysing chromosomes and genetic mutations continue to expand the diagnostic reach of prenatal diagnosis.

In recent years, the media has frequently reported on new claims of the imminent introduction of what scientists consider “The Holy Grail” of prenatal diagnosis – a non-invasive diagnostic test (Pollack 2011). On an international scale, there has been fierce commercial competition to introduce a first-trimester test isolating foetal cells in maternal blood thereby alleviating any miscarriage risk as posed by current invasive procedures.

A definitive non-invasive test made universally available to all pregnant women would take the probability of receiving a diagnosis prenatally rather than at birth close to 100% (Stotko, Levine and Goldstein 2011).  Safer diagnostic tests, while they have the advantage of not leading to miscarriage, will also intensify pressure on women to conform to surveillance through testing. Testing is already presented as not only benign and unproblematic, but also as fulfilling responsible pregnant behaviour.  Alongside the construction of prenatal testing as “beneficial medical advance” and the commercial drives to expand testing options, disability continues to be constructed in wholly negative and prejudicial ways.

My attention to the ethics of prenatal testing arrived sixteen years ago with the birth of my son Sean who has Down syndrome. As part of my doctoral research, I interviewed seventeen other mothers of children with Down syndrome about how they experience the ethical and personal choices about prenatal testing, particularly in subsequent pregnancies. This article explores some of the issues presented by prenatal testing while drawing upon my own research to illustrate how the perspective of mothers of children with Down syndrome disrupt many of the assumptions which underpin prenatal testing.

Messages about disability implicit in testing

While making a variety of decisions about testing, the mothers in this study expressed disquiet about the messages sent by the rapid expansion of testing and many also noted that their children’s births were often treated as an avoidable tragedy and drew scrutiny of why they as mothers had not undergone testing and terminations.

As Murray has observed:

There is an implicit message within the goals of prenatal testing that society believes that raising a child with disability is such a grave burden that it is both morally correct and medically appropriate to take expensive measures to ensure that such children are not born. (Murray 1996:132).

Testing is frequently presented as a compassionate enterprise, assisting families to avoid the birth of a child with disability.  Early testing is sought to avoid the difficulties of late terminations. However, this earlier testing and multiple, periodic forms of testing including both screening and diagnostic tests also emphasize the importance of detecting all affected pregnancies and further entrench a consensus that the rational response to a positive prenatal diagnosis is termination.   The language of “choice”, “reassurance” and “family well-being” obscures a reality that universal population screening is introduced because it is supported by cost-benefit analyses which assess the prevention of the birth of babies with disability as a core social benefit.

One mother in my study had revealing discussions with a geneticist shortly after her son’s birth:

One thing the genetic counsellor said was, you know, when you have a child with Down syndrome you do need to consider the impact socially, the child has on society, that they will never be a wage earner and that they draw from society and I thought, I remember thinking at the time that’s one very odd sort of statement!

The idea that people with disability contribute to their families and to the community and that the experience of disability adds to our understanding of what it is to be a human being is readily dismissed as irrational or sentimental.  Even where it is acknowledged that parents can find the experience rewarding, they are considered “lesser” rewards.  It might be conceded that once a child is there you have no choice but to make the most of it, but it is an experience which it is sensible to avoid.

Because there are few treatment options, testing is fundamentally linked to the option of “therapeutic” abortion.  This reality is often obscured.  Prenatal diagnosis is marketed as a form of “reassurance” rather than a form of prenatal selection (Lippman 1992:144).  The reassurance rationale is undermined by evidence that testing may merely relieve the anxiety which has been artificially raised by the testing itself (Gates 1994).  Testing also offers a very limited form of reassurance; a normal set of chromosomes does not rule out the possibility of disability.

Proponents of prenatal testing can encourage an unreasonable fear of disability and also overstate the promise of prenatal testing.  The constant focus on Down syndrome as a target for testing, as well as overblown claims for the psychological benefits of earlier knowledge – like rescuing couples from “despair”, (University of Queensland News, March 14, 2000) – contribute to a false and distorted view of both disability and what prenatal testing can deliver.  It is common for expectant mothers and fathers to feel anxious about the health of their baby and waiting for test results can be a difficult time.  Nevertheless does the mere possibility of a diagnosis of Down syndrome warrant despair?  Is prenatal testing actually reinforcing an unjustifiable fear and horror of disability?

There is also the existence of the implied “next step” and a momentum which makes almost instantaneous decision making preferable to any prolonged introspection about the implications of a positive test result.  Statistics indicate that less than 2% of couples in Victoria continue pregnancies following a diagnosis of Down syndrome (Ford 1999:69) and internationally termination rates of more than 90% are standard. Proponents of prenatal testing often offer the high rates of termination as proof that they are meeting consumer demand.  I suspect something different in these statistics.  I fear decisions made in haste and without adequate information about what disability is likely to mean for their child and for themselves as parents.

How different the statistics might look if couples were given the knowledge that families with disability are able to provide: not only the demands but the resources, not just the stresses but the rewards, the news that siblings are not usually adversely affected but share warm relationships with their brother or sister with disability, that many couples find their marriage enriched not threatened and that overall the experience is positive and ordinary.  Many, maybe most, would probably still terminate.  However evidence from an American genetic counselling service, where couples are actively encouraged to have contact with families with a member with Down syndrome, indicates that 38% continue the pregnancies (Parens and Asch 1999,  s9) compared to the 2-16% reported elsewhere (Rapp 1999:223, Ford 1999, Drugan, Greb et al 1990).

Pressure of decision-making in a time of crisis

There can be no doubt that for most individuals the news that your child or potential child has a disability will be painful, disorientating, even devastating.  However, the research and parent accounts of their experience make it clear that parental “suffering” does end and that the great majority of families adjust well to their new circumstances, despite the often real demands which exist.  If obstetricians and counsellors consulted families who had survived this painful early period, they may be more likely to offer more than an “empathetic” termination.

The women I interviewed described remarkably similar stories of adjustment to the news of their child’s disability; familiar stories of disappointment and compromised dreams, gradually replaced by hopefulness and a realization that life continues “normally” and “ordinarily”.  The salience of the label of Down syndrome was greatly reduced or as one woman said “You don’t wake up every morning thinking “Oh my God, he’s got Down syndrome”.

“He must have only been hours old and I remember looking at him and thinking and it broke my heart and I thought to myself no-one’s ever going to fall in love with him ... What a ridiculous thought, ‘cause I had”.

Many mothers had vivid recollections of their early fears.  It is likely that these fears are similar to those experienced by women receiving a positive diagnosis prenatally.

“I knew immediately I had to arrange a termination.  Looking at my son, he’s my main reason...He needs my attention.  He doesn’t need a little sister who’s going to be a vegetable for the rest of her life”. (Woman explaining her decision to terminate a pregnancy following a diagnosis of Down syndrome. The Australian Magazine, January 20-21, 1996).

From their present standpoint, the participants described their initial expectations as foolish, rooted in ignorance and based on a skewed expectation that their life would be irrevocably changed in negative ways.

“I mean life is completely different having a Down’s kid...but it’s full of so much fun and joy that it’s...it’s just different”.

Is women’s reproductive autonomy enhanced by prenatal testing?

Routine testing can be difficult to decline and so can diminish (rather than enhance) autonomous choice.  Many feminists have critiqued prenatal testing on the grounds that prenatal testing regimes contribute to the medicalisation of pregnancy and actually diminish women’s control over their own bodies.  Additionally many have recognized that decision-making often occurs without adequate knowledge of the purpose of the testing or about the conditions for which testing is conducted (Ginsburg and Rapp 1999).  Two women who had amniocentesis following ultrasound findings were not told the miscarriage risk of the procedure.  Sally related that the test was described as absolutely standard and presented as no more serious than having a urine test, “Why wouldn’t you want it?”

Down syndrome is “well recognized” and particularly surrounded by unhelpful stereotypes.  The diagnosis of Down syndrome is assumed to provide sufficient information on which to make a decision to continue or terminate a pregnancy.  In contrast, the women’s stories indicated the way they now contested their initial understandings of Down syndrome.  The mothers overwhelmingly saw their children as healthy (not ill or diseased) and saw Down syndrome as a “lesser disability” or scarcely a disability at all. They also saw the diagnosis as inherently ambiguous.  While the chromosomal result for Down syndrome is definitive, the message from mothers of children with Down syndrome is that it does not tell you how your life, or the life of your child will be.

It is the common wisdom of parents of children with Down syndrome that the first days are the hardest and the time when it is most difficult to think calmly and realistically.  Some doctors push women to make decisions quickly while still reeling from the diagnosis.  Julie was strongly encouraged to terminate her pregnancy the same afternoon she received the diagnosis.

“They were ready to take us up there straight away and do it. There was no, oh here’s the number for the Down syndrome association or anything, give them a call...there was no, no information.   They were just thinking, Down syndrome get rid of it”.

A number of participants spontaneously suggested that they would have previously terminated a pregnancy for a diagnosis of Down syndrome. This awareness led many to suggest they were extremely grateful that they had not known because they would have “gone into panic mode”:

“In retrospect if someone had’ve told me that you’re going to have this, and this and this (extra medical problems) I probably would have considered my options then, although I’m very, very glad that we didn’t .. You know I’m really pleased with the way everything’s worked out.  We think that we have the most beautiful baby in the world” .

Will we have a community without people with Down syndrome?

Prenatal diagnosis raises profound questions about the value of children and the sort of human community we are creating.

Prenatal testing promotes an emphasis on control and choice.  But these are largely illusory in the context of parenthood.  The journey into parenting is a leap of faith, one which requires considerable courage for we cannot control either our children or the circumstances they are likely to meet.  Barbara Rothman questions the helpfulness of “standards of acceptability” in preparing for the “reality of parenthood” (Rothman 1986:7).  As Thomas Murray suggests, “Good families are characterized more by acceptance than control” (Murray 1996:31). It may be that “good communities” are characterized by similar values of acceptance and flexibility.

This idea that having a child with disability had brought a richer life was very common in my interviews.  The positive changes included having one’s prejudices about disability dismissed, discovering one’s own resilience and strength and the ability to speak up for yourself and your child, and feeling a strong sense of what really mattered.  Far from being a cause for regret, as other researchers have found, parents of children with Down syndrome see that their children are “great sources of love and pride” (Stotko, Levine and Goldstein 2011).

Many participants believed that losing potential society members with Down syndrome was a “loss for society”.

“It would be like doing without the colour yellow in a tapestry. We’re not doing anybody a favour, because they really...they have their own input, their own colour, they make a difference, they light up things... like yellow does”.

Jenny commented on her mixed emotions while undergoing testing. While endorsing women’s rights to testing and termination, and believing that having testing to be forewarned was the right decision for her personally, she felt some degree of complicity with a system which sees the prevention of Down syndrome as a social good.

I told someone he was doing the test and they said “Oh, he’s very good, he rarely misses one”, and I just felt so ashamed!  It’s terrible, that’s such a dreadful thing to say, and it's such a loss, and it’s a loss for our society and the way we think and what we value...you hear stories about millionaires, and they’re being held up as these icons and everything ... (But) because you are a really nice person like John is and has such potential for joy and just, you know, being true, you’re not considered worthy.

Conclusion

There is a disturbing gap between the technological momentum and discussion on the impact of these developments.  Despite continuing media interest in new technologies, I contend that the current practice of routine prenatal testing presumes that the ethical questions are “settled”.   The stories of people with disability and their families are proposed as support for those who are making decisions about the composition of our next generation.  These experiences challenge the dominant narrative of disability as disaster.  In particular, stories of surviving the “crisis” of disability should help both expectant couples and professionals to understand that the shock and grief following a diagnosis is not predictive of the long-term future for families.  The research challenges the idea that reducing the incidence of Down syndrome through abortion is an honourable goal.  It identifies this goal as a threat to the richness and diversity of our community.  It suggests a series of guidelines that could ensure that testing is truly voluntary and that decision making is informed.  It asserts that people with disability should be seen as valuable and necessary members of our community.  It is presented in the sincere hope that a future where people with disability are welcomed is possible.

REFERENCES

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