Reflections on World Down Syndrome Day 2014

March 21st is World Down Syndrome Day, and 2014 is the ninth year in which it has been held, and the third in which it has been recognized by the United Nations. I want to start this post with an already-widely viewed video from CoorDown that has been up for less than a week, and step back from there.  The video is called “DEAR FUTURE MOM”:

At the time of writing, this video had been viewed over 1.6 million times in 6 days, with over 500 comments on it.  It’s clearly designed to be emotional and to directly send a number of messages, including at least these: anxieties about having a child with Down syndrome are understandable but overblown; children with Down syndrome will likely bring much joy and richness to the lives of any family they are in, and particularly to mothers; and Down syndrome does not obliterate or subhumanize the person who has it.

The need for those messages, and perhaps others, to be sent, loud and clear, is grounded in the sad fact that parental fears associated with potentially having a child who will have Down syndrome are amongst the highest risk factors for people with Down syndrome.  This is because the growing prenatal screening and testing for trisomies, including trisomy 21, the genetic condition that marks and causes Down syndrome, continue to lead to very high rates of selective abortion, despite the positive changes in the life prospects for people with Down syndrome that have come with social and medical advances.  Estimations of the termination rate of fetuses diagnosed as having trisomy 21 vary, but are reported as being as high as 92% in the UK and around 67% in the USA, albeit with much variation across different subpopulations; these figures are taken from Wikipedia, and their sources here seem to me reliable.  Although screening and testing for trisomy 21 may be part of policy guidelines from medical associations–as they are in Canada, for example–the ultimate choice whether to terminate any particular pregnancy lies ultimately with the potential parents, at least in the vast majority of cases.  Hence, anxieties and fears on their part, themselves fed by both broader social attitudes and biases and those that more specifically form part of medical culture, play a significant role in whether a fetus diagnosed with trisomy 21 will survive to become a person with Down syndrome.

With the recent development of noninvasive tests for trisomies and other chromosomal irregularities, there is a legitimate heightened concern about what this will mean for the future of people with Down syndrome.  As Roger Collier reported in a news item, “Surge in Down syndrome prenatal testing anticipated” in the Canadian Medical Association Journal in April 2012, Sequenom Laboraties had at that time recently begun offering such a test, originally just for trisomy 21 (MaterniT21), that later included testing for trisomy 18 and 13 as well (MaterniT21 PLUS).  On 14th January this year, Sequenom announced that they had entered into an agreement with Mayo Medical Laboratories to “provide access” to MaterniT21 PLUS, noting that approximately 750 000 pregnancies in the US each year fall into the potential client category of “pregnancies at high risk for fetal chromosomal abnormalities”.   Slightly earlier, on 1st January, United Health Care Oxford published a new clinical policy showing coverage for this test.

So some of these changes, may partly explain the differences between CoorDown’s first (so far as I can tell) World Down Syndrome Day video, in 2012, and the one they have made for this year:

While the commercial-modification project described here was innovative and funky, the overall tenor of the video is mild and merely information-providing, and lacking the emotional plea and the sense of urgency that I think this year’s video conveys.  At least to me.

Finally, what is the focus that the Canadian Down Syndrome Society has adopted this year?  Well, it’s reflected in the “Let us in: I want access to health care” video that was produced by Down Syndrome International and that they have on the CDSS website:

Why access to healthcare?”, one might ask.  Here, Colliers’ news piece quoted from earlier helps to understand:

“Down syndrome is the least-funded genetic condition by the NIH [National Institutes of Health], bar none,” says Michelle Sie Whitten, executive director of the Global Down Syndrome Foundation. “How can we attract good scientists and good doctors? There’s no money in this field. They will go into autism or go into other things. It’s like a nail in the coffin.”

And as Colliers makes clear, the diminishing medical interest in Down syndrome is likely connected to the increasingly easy ways to prevent the birth of children with Down syndrome.

One thought on “Reflections on World Down Syndrome Day 2014

  1. I have recently been doing some research for a paper on the developments of Non Invasive Prenatal Testing (NIPT) in Canada and I agree that it greatly threatens the future of the Down Syndrome (DS) community. As you have noted, the rates of termination of fetuses diagnosed with DS are extremely high, and the reason for this is likely the biased and uneducated attitudes held by prospective parents and physicians about what it means to have DS. Fortunately, there continues to be a strong DS presence in our community. But if I have not misinterpreted my research findings, I think NIPT may drastically change that. This is because the current prenatal screening and diagnosis system fails to detect a significant number of fetal DS. The screening tests currently offered to every pregnant woman (maternal serum screening and fetal ultrasound) detects DS at an 85% rate. This means that 15% of fetal DS remains undetected by those screening tests. Within that 15%, a number of those women will be considered “high risk” due to their age or family history. As a result, they will be given the option of invasive prenatal testing (amniocentesis or chronic villus sampling). Through those procedures, their fetuses will be diagnosed with DS. Yet within the 15% of fetal DS pregnancies undetected from screening, a number of those women will be “low risk” and will not be given the option to go through invasive prenatal diagnosis procedures. As a result, they will be unaware of the fetus’s condition until its birth. However, if NIPT becomes a part of routine prenatal care in Canada, either as a screening test or as a diagnostic test (which many think is inevitable,) then the rate of undetected fetal DS carried to term will virtually vanish. This is because NIPT has a 99% detection rate for DS (and will likely have a 100% rate in the near future). Indeed, this is why NIPT is seen to be so “promising.” If abortion rates of fetuses diagnosed with DS remain as high as they are, then the implementation of NIPT into routine prenatal care will surely lead to very troubling effects on the diversity of our community.

    In my opinion, there is nothing inherently wrong with prenatal tests. But the problem is that developments in prenatal tests are moving dangerously fast, and the the level of education and understanding about disability on the part of society, physicians’ and prospective parents can’t keep up. I don’t know precisely what policy responses would be appropriate and effective, but I do think that any policy response should recognize and reflect the severity of the situation and exactly what is at stake.

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