Thursday, March 6, 2014

When science doesn't have all the answers

By Louise Kinross

It’s on the list.

My son’s rare genetic deletion is on the list of disorders identified by microarray analysis of a fetus’s DNA

It was a surprise to find it there, but given the dizzying speed of prenatal testing advances, it shouldn't have been.

It makes me sad to think that the lives of children like my son are being targeted for termination. Is this a step forward? Something that will make the world a better place?

We can identify more and more genetic disorders, but can we use this information in an enlightened way to help families make decisions about raising or terminating children with disabilities?

Microarray analysis is a new technique that compares a fetus’s DNA with a normal DNA, identifying genetic duplications or deletions too small to be detected by karyotyping (the microscopic analysis of chromosomes that picks up larger changes like those seen in Down syndrome).

That's why when I had an amniocentesis over 20 years ago I was told the child I was carrying was "normal," when in fact he had a genetic change too subtle to be detected.

I've written about that experienceHow an elevated blood test led us to a genetics counselling appointment where there was no counselling: no discussion about our values, what parenting meant to us, or how we felt about screening for and aborting a fetus with genetic disabilities. Other than a recounting of the dry statistics (that I had a 1 in 200 chance of having a child with Down syndrome and a 1 in 200 chance of miscarrying as a result of the amnio), there was no discussion at all.

When I couldn't make a decision, an obstetrician was sent in to berate me, referring to a child with Down syndrome as "a burden you'll live with for the rest of your life."

In a 2012 study published in the New England Journal of Medicine, the new microarray testing picked up the kind of genetic change my son has in six per cent of fetal samples with normal karyotypes from women who were referred when a structural problem was seen on ultrasound, and in 1.7 per cent of samples with normal karyotypes from mothers who were referred because they were older or had had a positive screening test.

Microarray currently requires fetal cells that are taken through amniocentesis or chorionic villus sampling, so it comes with a risk of miscarriage.

But the researchers look to a non-invasive blood test being developed, with hopes that "every woman who wishes will be offered microarray, so that she can have as complete information as possible about her pregnancy," says lead investigator Dr. Ronald J. Wapner in a related news release. Dr. Wapner is professor and vice chairman for research at the Department of Obstetrics and Gynecology at Columbia University Medical Center.

Who can argue with complete information?

But is it complete?

What kind of counselling is offered today to the parents of a fetus that is diagnosed with a micro-deletion or micro-duplication? Even less is known about some of these conditions because they're just being named.

Is a medical description of the condition paired with information from families raising children with the same disorder? Or affected adults? 

In my son's condition, there's huge variation in how children are affected and microarray can't predict whether the symptoms will be mild or severe. And what about the human side of the equation, the joy that a child, regardless of ability, brings to a family. That can't be conveyed by a professional who has no firsthand experience with disability, and may well view disability as a medical failure.

"Women often terminate a pregnancy without knowing what life would be like with and for an anomalous child," writes Far From The Tree author Andrew Solomon in this New Yorker piece. "It is worth publicizing the satisfaction that the experience may entail, so that the pro-choice movement becomes the pro-informed-choice movement."

Parents-to-be often "confuse how it feels to lose an ability (to be suddenly bereft of hearing) with how it feels to live healthily with a variant body (to be deaf all your life)," he writes. "Further, they confuse their own discomfort with their child’s."

Yesterday one of our readers sent me a study called Posttraumatic growth in parents and pediatric patients in the Journal of Palliative Medicine. The study is a review of 26 journal papers on positive psychological change that results in parents or children after a child's traumatic medical event (including cancer, prematurity, and acquired and congenital disability).

"Posttraumatic growth is the positive psychological change that results from a struggle through a life-altering experience" and may include "greater appreciation of life, improved relationships, greater personal strength, recognition of new possibilities in one's life course, spiritual or religious growth, and reconstruction of a positive body image."

The authors conclude that posttraumatic growth is an important, little studied and poorly understood phenomenon affecting children with serious pediatric illness and their families. They suggest research is needed on how professionals can positively intervene "to facilitate families' movement away from dysfunction or deterioration and toward growth." 

I include this paper because it demonstrates that traumatic experiences that shake up our worldview are not wholly negative. Life is more complicated than that.

The technical side of prenatal testing is the easy part. It's how we use that information to benefit families and the culture as a whole that's complex.

A paper on the use of microarray in prenatal diagnosis by the American Congress of Obstetricians and Gynecologists (ACOG) raises some important points.

"The potential for complex results and detection of clinically uncertain findings identified by [microarray testing] can result in substantial patient anxiety," write the authors. 

They note that women in the New England Journal of Medicine study who received abnormal results “reported a lack of good understanding of the potential for uncertain results and noted feeling great distress on receiving such information and then needing to decide how to proceed with the pregnancy.”

The ACOG recommends that women understand that prenatal microarray "will not identify all genetic disorders." 

This is a point true of amniocentesis, but when I was counselled, no one ever explained it to me. My understanding was that a clear amnio result meant a genetically-intact child. After my son was born, I stopped counting the doctors who exclaimed, in disbelief: "But you had a normal amniocentesis!"

Further, the ACOG notes that "diseases may be identified for which the clinical presentation may vary greatly and range from mild to severe. It may not be possible to predict what the outcome will be in a given patient." 

So how will identifying these problems prenatally help?

We are way better able to counsel parents about what [development issues] would mean for the child," Dr. Wapner says in this CNN story. "We can modify the course and improve the outcome for the child. 

I hate to be cynical, but there aren't any fetal interventions that can improve my son's condition, or many of those I see on the list.

It would be useful to know what happened next in the cases of the women in the study whose fetus's received diagnoses. Did any of them benefit from fetal interventions that changed their outcome? Were the fetuses carried to term followed to see how they and their families fared? How many were terminated? 

Oddly, the paper doesn't mention anything about termination.

How come there is no research on the "after" side of the prenatal-testing equation?

For example, how do parents rate the counselling they received? How could it be improved? Did parents feel equally supported by professionals in choosing to carry a child to term or terminate the child? What supports are provided to parents who terminate and what supports are provided to parents who don't?

We know that 85 per cent of women who receive a prenatal diagnosis for Down syndrome choose abortion.

Do they feel it's a choice, or a social responsibility?

This study in the Journal of Applied Social Psychology looks at how people judge women who carry a baby with an identified disability to term or refuse prenatal testing.

The survey asked 281 staff at a Canadian university and 341 Canadian doctors who work in obstetrics to rate three scenarios in which a woman's child is born with a disability. Both the university community and the doctors rated the woman who chose not to abort her disabled fetus and the woman who refused prenatal testing as more responsible, more to blame, less deserving of sympathy, and less deserving of social and financial support for their child's care than a woman who wasn't offered testing.

"This examination is of pragmatic relevance because of a growing sentiment that prenatal testing can and should be used to meet public economic goals by reducing the financial burden that disability places on the medical and social welfare systems, and that women who do not use it to prevent the birth of a disabled child should be held financially or legally accountable," writes the author.

I'm grateful that microarray testing didn't exist when I was pregnant with my son. I didn't have the life experience to make an informed choice, and the genetic clinic didn't provide me with any family stories to give me a picture of what real life could be like. Most importantly, I couldn't predict my ability to cope with my son's disabilities and to parent a child who's different. 

I believe the front-end of prenatal testing is proceeding at a pace way beyond our ability to understand its ramifications. 

It's how we support families after the diagnosis that needs study.

Science must be used to our benefit, not just because the knowledge and technology exist.


Louise, thank you for this well-researched and thoughtful piece.

I think this issue is about informed choice.

This means knowing that you can turn down prenatal testing, without judgment or ramification. That's a woman's choice.

AND it means value-neutral discussion of all options, which often means: continuing with pregnancy, placing a baby for adoption, or termination. There is not just one choice. There are three.

I think that the way this information is offered and then the way a diagnosis is disclosed is crucial. Those offering information have to carefully examine their own value systems to be truthful about how they are sharing information - is it biased? Are you using terms like 'burden' and 'risk'? That's not value neutral.

Finally, I wish that families experiencing a prenatal diagnosis were given the option to connect with another family who has a child with the same diagnosis. Because, short of living it yourself, the only other person who understands what it is like to have a child with a another parent.

(This is obviously a hot topic for me).

Brilliant post. I think you said it all in your second-last sentence "It's how we support families after the diagnosis that needs study".
That part is sadly lacking, and there is way more negative judgmentalism than there is support and sympathy.

One of the most important posts about the subject in recent memory, Louise. AS you know I've a number of times about the situation of euthanasia of ill and disabled newborn children in the Netherlands.
There the term 'the fullest possible information' is a key element in coming to the conclusion on the side of the physicians to be able to give prognosis to the parents and thus nudge them in the direction of euthanasia. But this full information is merely way of saying 'consensus opinion' based on outdated information or a critical lack thereof, as you point out so clearly in your article. (For a revisit of one of my posts on the subject: ).

The lack of education on the side of the medical establishment is horrific vis a vis the families and the life that awaits them, whatever the decision. I am glad you brought it up as the much needed discussion has yet to begin.

Thank you Louise for posting on this complex and sensitive topic.

Actually many studies have been done on counseling and whether or not it is biased and on the experience of women who terminate for anomalies.

There is much research that reveals that counseling after testing (often done by an OB or family dr) is biased as are the brochures provided. Lawson (2012) The Portrayal of Down Syndrome in Prenatal Screening Information Pamphlets) is one Canadian example. Victoria Seavillekline (Dalhousie) did her doctoral research on consent for prenatal screening and testing and concluded that informed consent did not exist, in part because of societal pressures and expectations. (Her JCB talk is archived here:

In my own research on trisomy 13/18, we found that the majority of parents were given negative and false information, were pressured to terminate and often had to seek another physician for continued medical care.

I think it is difficult for genetic counselors. They want to support parents with the information they need at a difficult time. Perhaps, when the vast majority choose termination for conditions such as Down syndrome, they are reluctant to connect a parent with a family (unless requested) for fear that it will only make the inevitable decision to terminate more difficult.

Studies have been done on the experience of women after terminating for anomalies. Charlotte Wool published a paper, Systematic review of the literature: parental outcomes after diagnosis of fetal anomaly (2011) in which she summarized all of the papers on the topic. Indeed, a significant number of women suffer PTSD and sustained depression.

I think the topic of informed decision making in prenatal testing requires consideration of the effect of the law. Providers must ensure that parents are well informed of all possible negative outcomes to avoid a potential of wrongful birth lawsuit. However, failure to inform about everything positive results in no repercussions.

Health policies and the drive to reduce costs cannot be ignored. The medical and social costs of disabled children can be significant and the system is strained. At a bioethics talk, one policy leader declared that due to costs, it is important to think critically about quality of life vs salvageable life. My observation is that trending ethos is that disability=suffering for the child, family and indirectly, through increased costs, to society. I sense that most believe that the woman has an obligation to her child and to society to ensure that the child is born as healthy as can be and with no predicted disabilities.

Another important area in this field to consider is the experience of women who refuse to terminate when there was a diagnosis or could have been except she refused testing. You mentioned the Lawson study that suggested that society felt the child was less deserving of public services and that study was somewhat old. (2003) How might that have changed? Is it important to society that respect for choice exists and that children born with conditions that can be detected receive appropriate medical care and services? If so, how are we ensuring that is the case?

The Biotechs are expanding testing more quickly than anyone can imagine. Prenatal whole genome testing is around the corner. There is a strong demand for this technology because many expectant mothers want it but perhaps also because it is cost-effective and many are becoming wealthy through it.

Imagine how difficult it is to make a decision after being told that your child has a microdeletion or other condition that "might" be nothing, mild, or very serious.

I regret to say this, but after a thorough consideration of all that is involved with prenatal testing, I am not hopeful for the future.

Thank you Louise for this tremendously insightful and critical reflection on attitudes toward pre-natal practices. Like many other areas in bioethical discourse (e.g., “euthanasia vs. palliative care”) this domain suffers from simplistic disturbingly uninformed (rather misinformed) polemic caricatures. Examples that apply in this case include: “right to choice vs. right to life”; “(so-called) child’s quality of life vs. sanctity of life”; “patient/family autonomy vs. rationalization of societal resources”; to name only a few. These simplifications close off attentive examination of the complex ethical concerns surrounding these difficult situations, frequently in favor of apparently expedient action.
In my own experience, our work has highlighted that it is systematically presumed that disability is understood as a “burden” – by health care providers as well as many families – that medical procedures can “treat”; the most expedient treatment being pregnancy termination or withdrawal of life-sustaining treatments after birth (an interview with me on this topic was previously posted on this site). This is not to say that pregnancy termination or withdrawal of life-sustaining treatments is necessarily wrong – I want to avoid that simplistic polemic. As you (Louise) have highlighted, the key problem is that our pursuit of knowledge seems to be systematically skewed toward biological identification of “anomalies” – without a corresponding development of knowledge about how these “conditions” matter morally. Are the presumed “burdens” actually borne out? Are these “burdens” irreconcilable with the child remaining alive (in many cases, social prejudice and exclusion are the most significant “burdens” faced by children and families – rather than the medical problems)? What enrichments are under-acknowledged in the lives of these children and families (because they are prejudicially judged unworthy and therefore under-researched and not listened to)?
Personal accounts, such as yours and the many others posted on this extraordinary site, are valuable demonstrations of how attitudes and practices relating to “anomalous children” are disturbingly uninformed, profoundly biased, and ethically problematic. History already provides strong examples of how conceptions of “normality” are commonly rooted in social pre-judgements and frequently result in actions that we subsequently considered inhumane. We need to better understand the actual lives of these children and families, the joys and the hardships, the problems that can be overcome, and those that are truly irreconcilable, before resorting to conclusions about what is right and wrong. We are so far away from genuinely informed pre-natal choice, that we should at least openly acknowledge the unknown and actively seeks ways to know what can be known from the many family experiences that already surround us.
Once again, thank you Louise for your usual rich insight. I myself feel a little more informed.

Franco Carnevale, RN, PhD
Clinical ethicist, nurse, psychologist
Professor, McGill University
Co-Chair, Pediatric Ethics Committee
Montreal Children's Hospital

This is a very interesting and informative article. I wanted to share the experience we had when I was pregnant with our son. He was diagnosed with hypoplastic left heart syndrome, when I was 22 weeks pregnant. After the echocardiogram, we were led to a private room where we met with one of the cardiologists. He told us what the diagnosis was, drew a rough diagram on a scrap piece of paper he scrambled to find, and gave us a complicated and difficult to understand description of the condition. He then proceeded to tell us that 6 out of 10 babies survive past 5 years of age and that this baby would be a huge burden on our family. He said we needed to consider the fact that we have 3 other children at home. He mentioned that it would cause stress and damage to our marriage if we chose treatment and that we shouldn't think of termination as being selfish. Treatment is a series of 3 palliative heart surgeries all within the first few years of life. We were told that we needed to make a decision quickly because I was far enough along in the pregnancy that they would soon have to consult with the ethics committee for approval of an abortion. We didn't have to think about it, we said right away that we had no intention of terminating the pregnancy and wanted full treatment. After we declined termination, comfort care was offered, which meant once the baby was born, he would have been kept "comfortable" without treatment and allowed to die.

We weren't given proper information on the condition our son had and no contacts on how we could get proper support. We felt very alone. Thinking back on the experience I should have said much more than I did, but I was in such a state of shock I wasn't thinking clearly. The doctor did not seem very sympathetic or caring and seemed to have one option in mind, termination, and he tried hard to convince us to choose that.

Our son is 5 years old now and gone through 4 heart surgeries and numerous catheters. He is a beautiful miracle and brings so much love and happiness to our lives. He's a happy, healthy, affectionate and energetic boy who loves to play hockey and soccer. He is in kindergarten and thriving. Our marriage if anything grew stronger because of him and the journey we took together. Our other children also have benefited from the experience. What could be better than teaching children to love someone with a disability.

Thank you so much to Mom2six for sharing your story. I thought that your story was profound and spoke directly to the heart of the matter.

I wish the topic of 'disclosing diagnosis' was cracked WIDE open in the medical community. I have some genetic counsellor friends...and they tell me it is rare that they are the ones who actually disclose prenatal is the OBGYNs or the geneticists. THAT is the group that needs to be brought into this discussion. How are medical students being taught? Why are they still calling it 'breaking bad news?'

As a mom of a child with Down syndrome, our community been struggling with the biased sharing of news (both prenatally and post) for years. Now that more diagnoses are on the 'list', I hope this leads to more thoughtful dialogue.

I am commenting on this excellent piece belatedly after reading your article for today. You have brought up issues that are ever so relevant to this very sensitive subject.

One thing that can benefit a child who is born with any of these identifiable genetic issues, with informed parents, is that those parents can get a head start on what is available for the condition that child could have. They might choose to go to a medical center better set up to deal with a birth involving the condition. They may decide not to have a home birth or birthing center experience when the information gives a higher probability of need for medical intervention. Some scarce medical resources can be brought near by since the chances of its need are enhanced. These days som in utero intervention such as surgeries, and drug treatments can be commenced to alleviate some possible problems. So the tests are not always done to exterminate those who will come up positive to a genetic syndrome, though, yes, many pregnant women have that motivation and many go down that path with certain diagnoses.