The Brutal Remedy for Mongolism

What interesting news the mainstream Italian newspaper La Repubblica recently had! “Down Syndrome: In Iceland they choose to avoid it”:

And avoid it they do: The tweet-text below the picture goes on to report how only 1 or 2 babies afflicted with that genetic irregularity are born in Iceland each year.

Let’s have a reminder that Down Syndrome is certainly nothing anyone would want to see in their new infant; from Wikipedia:

Those with Down syndrome nearly always have physical and intellectual disabilities. As adults, their mental abilities are typically similar to those of an 8- or 9-year-old. They also typically have poor immune function and generally reach developmental milestones at a later age. They have an increased risk of a number of other health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders, among others.

Further, and to be blunt, people with Down Syndrome have a certain common look: “a small chin, slanted eyes . . . a small mouth,” etc. Not something you like to see; and it was this appearance that led the doctor who originally described the syndrome back in 1862, John Langdon Down, to initially call those suffering from it “mongoloid” as he felt they resembled the so-called Mongoloid race in Asia. (These days, use of that term is strongly discouraged; I only have it in this post’s headline because I needed something short and with brutal shock-value.)

Icelandic babies, then, are to a remarkable degree spared such anguish* – innocents spared a stunted (and likely shortened) life assigned purely due to the cruel vagaries of chance. Perhaps even more significantly, Icelandic parents as well are spared what are certainly the much greater – and longer – demands on them, both financially and emotionally, to support their child in living as happy a life as he or she can.

Fantastic! Then again, perhaps that this comes out of Iceland is the least surprising thing. Many are aware how people there share a unique common genome-set, due to the fact that almost all of them are descendants of a limited group of Viking explorers who first settled the North Atlantic island starting towards the end of the ninth century A.D. (OK, and maybe also of the Irish slaves they brought there.) This remarkable fact once led Wired magazine to call Iceland “the world’s greatest genetic laboratory,” due to the remarkable genetics research that has been carried there in recent years, taking advantage of that national genetic homogeneity.

Sorry: No Miracle-Cure

Click on La Repubblica’s tweet to go on to the underlying article, however, and you will find your hopes dashed. Iceland, it turns out, avoids Down Syndrome in its children in the most direct, old-fashioned way.

NO, we are certainly NOT facing some genetic change confined to this country, Iceland, the first on European soil, in which the births of babies with Down Syndrome would seem to be almost entirely absent. Rather, the reasons for the enormous fall in the incidence of this syndrome can be ascribed to the choice made by Icelandic parents, almost always in agreement, to subject the fetus to a pre-natal test within the first weeks of pregnancy, and to interrupt gestation in the eventuality that the screening returns positive for Down Syndrome.

Ha – “interrupt gestation”(IT: interrompere la gestazione): what you and I would more simply call “have an abortion.” But this flowery language, this circumlocution, reflects the more remarkable fact here that you may have forgotten: This report is appearing in an Italian newspaper of widespread national circulation. Italy: a very Roman Catholic country, where women only gained the right to have an abortion in 1978, and still only within the first 90 days of pregnancy; where the still very influential Church authorities tell you you are committing a mortal sin if you even do that! La Repubblica reporter Sara Pero (female, of course) is broaching here a very taboo subject!

There’s something else. After making clear in the very first paragraph (which I quoted above) that the scarcity of Down Syndrome babies in Iceland was no miracle solution, the article goes on basically to lay out the statistics of screening and abortion of Down Syndrome-positive babies there. Those statistics demonstrate that it is indeed the high rates of screening, and then of aborting positive babies, that account for that scarcity. Icelandic women are also allowed an abortion up to four months after conception. (BTW it’s also true that ~70% of babies born on the entire island are born at Reykjavik hospital – handy for ensuring accurate numerical reports!)

But the thing that stuck out at me was the fact that the accuracy of the Down Syndrome test there was estimated at 85%; that is, that the risk of a false positive (fetus diagnosed
as having Down Syndrome, but does not really) is 15%. That 85% seems to me rather low; put another way, that 15% seems rather high for, after all, in Iceland this is truly a life-or-death test.

Let’s briefly consider the flip-side of the coin, false negatives (fetus diagnosed not to have Down Syndrome, but turns out upon birth that it does, a percentage I assume to be rather lower than the 15% false-positive rate). Well, some babies with Down Syndrome are still born each year in Iceland, one or two; these must be those false negatives.

But back to the false positives: at a 15% rate, there are certainly many, many of them each year. And these babies – perfectly normal – are aborted, almost without exception. “Massacre of the Innocents!”, you cry? You may very well be right; but, clearly, Iceland society has collectively decided that it will not put up with Down Syndrome children, has set systems in place to execute that belief – and has been “rewarded” with extraordinarily low rates of that syndrome.

It’s an ethical-philosophical stand which, if extreme, that country has nonetheless unambiguously and clearly adopted; it may well not be the same one you would choose. For me, the issue here is rather doing whatever needs to be done to come up with a more accurate screening technique. I beg pardon, but for me this dilemma finds an analog in the problem the New York Times reported on only a month ago about new-found doubts concerning behavioral testing of stray dogs turned into animal shelters. For these dogs it’s also true that, if they fail these tests – which are behavioral, not genetic, but still not anything they can “study” for – they will not leave the shelter alive.

*Well, to the extent that they ever are able to be sufficiently self-aware – a forlorn subject in its own right.

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