Endangered species

Michael Cook
14 October 2009
Reproduced with Permission

Down Syndrome children are disappearing because of the popularity of do-it-yourself eugenics.

The dwarf wedgemussel, the Chittenango ovate amber snail, the Choctawhatchee beach mouse and the frosted flatwoods salamander are among 614 animal species listed as threatened or endangered by the US Fish and Wildlife Service. If Dr Brian Skotko, of Children's Hospital Boston, has his way, Down Syndrome children should be added to the list. In a recent issue of the journal Archives of Diseases in Childhood he points out that the number of DS children born is declining year by year, at least in developed nations.

Current studies show that 92 percent of women who receive a definitive prenatal diagnosis of DS choose to terminate their pregnancies. As a consequence DS children are vanishing. In Ireland, where abortion is not an option, the sight of a DS person on the street is far more common.

Because women are waiting longer before they have children and older women have a higher chance of having a DS child, the birth incidence should be climbing if DS children were not being disposed of. In fact, it has actually decreased. For instance, in the US, without prenatal testing, there should have been a 34 percent increase in DS births, largely because of older mothers. Instead, there has been a 15 percent decrease or a 49 percent gap. In the UK, there is a 48 percent gap. No doubt the statistics are similar in Australia.

And Skotko says that there will be even fewer of these children in the future because a non-invasive blood test will soon be available which will provide a definitive diagnosis in the first trimestre. Two companies in the US have announced that they will market such a test later this year. Because it is uncomplicated , nearly all pregnant women will use it. Because it gives an early diagnosis, a woman will be able to terminate in the first trimestre, when there will be less risk to her health. And because it is non-invasive, it poses no risk to the foetus before the diagnosis.

This is an important point. The tests which are currently available entail a small risk of miscarriage. This means that sometimes a normal child dies in the course of testing whether or not it has Down Syndrome. In fact a UK study last year claimed that for every 660 DS foetuses which are detected and terminated each year, 400 normal children perish as well. If DS kids are going to be treated as enemy combatants, they are going down fighting.

There will also be a financial incentive. Because the new tests are relatively cheap, health insurance plans will probably cover them, making their uptake even more widespread. DS children often have other medical problems, and the insurers could see this as a cheaper option than covering the cost of treatment for the rest of their lives.

A plethora of knotty ethical problems are contained in this situation, even for those who accept a woman's right to choose an abortion.

One is the ethical legitimacy of prenatal screening. Unlike other kinds of medical tests, the desire outcome is not the patients health. As a recent article in the journal Nature Reviews Genetics pointed out, prenatal screening "differs from other diagnostic procedures in medicine insofar as most of the conditions tested cannot be cured or substantially alleviated. In these cases, the mother's only option is to decide whether to accept the child's impairment or to terminate the pregnancy". So in many cases, prenatal screening for DS has become a kind of DIY eugenics.

But is the impairment of DS really so bad? "Parents who have children with Down Syndrome have already found much richness in life with an extra chromosome," writes Dr Skotko. Admittedly, DS children have an intellectual disability (although some have made it through university) but they are often extraordinarily loving, cheerful and affectionate. Parents often remark that they have special gifts that other children lack.

What worries Skotko is that most doctors know very little about the positive side of life with DS and misrepresent the burden of raising a DS child. They often give inaccurate, incomplete and sometimes insensitive advice to women. He feels that this effectively makes it impossible for women to weigh up the pros and the cons before giving informed consent to a termination. They only know the cons.

Furthermore, as the number of Down syndrome children decline, there may be less institutional support and reduced funds for medical research. "If all these people terminate babies with Down syndrome, there won't be programs, there won't be acceptance or tolerance," one Seattle mother told the New York Times.

The new non-invasive tests will make diagnosis of hundreds of genetic conditions possible before birth. DS is just the first of them. So in the not-too-distant future we are sure to debate what kinds of genetic variability we will tolerate in our society. An opinion piece in the leading journal Nature recently argued that "genetic diversity, from within or among groups, should be embraced and celebrated as one of humanity's chief assets". However, having drawn the line at DS, what other conditions will women be encouraged to terminate? Cleft palate? Clubfoot? Heart defects? Being female? Prenatal diagnosis is a mixed blessing: it gives knowledge, but not necessarily the ethical insight to use it wisely.