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tthe other side of antenatal testing.

Posted Dec 14 2008 11:04pm

I think it is unlikely that we will see a genetic test for autism any time soon. It may never happen. Autism is a complex condition. We have not identified reliable biomedical markers for diagnosis. We do not know which genes, in which combination are necessary to cause autism. Nor do we understand how environmental factors influence gene expression. Genetic variations that are beneficial in one environment may be detrimental in another.

The Sickle Cell mutation is probably the most striking example. Sickle Cell Disease is painful, unpleasant and can be a killer. It is caused by a genetic mutation that alters the shape of red blood cells. Carriers have a single allele for the mutation. If two carriers reproduce there is a 25% probability that their child will be affected. But there is a 50% probability that the child will be a carrier like themselves. If only one partner is a carrier the child will not be affected. But it has a 25% probability of being a carrier.

This is important because carriers are resistant to malaria. In other words, if you live in a region where malaria is common the sickle cell trait has survival value that outweighs the negative impact of the disease. That is why Sickle Cell Disease remains common in parts of Africa but is declining in African American populations where there is no advantage in possessing the mutation. Of course the long term solution is to eradicate malaria and use genetic counselling to hasten the demise of the sickle cell mutation. But this example does go to show that the gene/environment relationship can be more complicated than we think.

The gene/environment relationship in autism is further complicated because we know that autistic traits can be beneficial and attempting to screen them out of the population may deprive us of valuable human qualities. Genetic testing often leads to abortion so there is a personal cost a swell as a more general human cost to consider when taking this path.

I have always considered that abortion should be a “a woman’s right to choose,” the slogan we campaigned under whenever attempts were made to restict the UK law on abortion. We were clear that that included the right to choose NOT to have an abortion as well, even if medical tests suggested that the baby would be born with a severe disability or disease. I have always assumed that for those very rare conditions in which the child will experience a short and painful life before dying in infancy, abortion is for the best.

But today I read an account in the Guardian by Victoria Lambert, who did undergo antenatal testing and discovered that her child to be had a serious genetic disorder, Patau’s syndrome, in which the child rarely survives for more than a few days after birth. Nine years later, she still regrets her decision to have an abortion. Indeed, reading the article, it is not clear whether or not she made the decision. Everyone around her, her  family, her doctors seemed to assume that abortion was the only option.

It sounds naive but what nobody told me, then or later, was that not everybody terminates such a pregnancy. I could have gone on and carried the baby to full term. The baby might even have survived for years - albeit with a serious and life-limiting set of disabilities.

It may be that if with proper counseling she would have still decided on termination. But she would have been much better equipped to deal with her feelings afterwards. There is a charity that she spoke to later, Antenatal Results and Choices which does provide non-directive advice to parents involved in antenatal testing.

Victoria is not just concerned with her own pain. She refers to recent reports about a new and safer test for Downs Syndrome that were universally approving because unlike existing tests there was very little likelihood that a normal child would spontaneously abort. The implication being that it is not just acceptable, but desirable for parents to terminate children who are judged imperfect so long as normal children are not harmed in the process. She quotes Dr Lisa Bridle, a disability ethicist and the parent of a Downs child.

“Testing is presented as not only benign and unproblematic, but also as fulfilling responsible pregnant behaviour. Alongside this construction of prenatal testing as ‘beneficial medical advance’, disability continues to be constructed in wholly negative and prejudicial ways.”

Bridle has said: “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.

“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, earlier testing and multiple, periodic forms of testing also emphasise the importance of detecting all affected pregnancies and further entrench a consensus that the rational response to a positive prenatal diagnosis is termination.”

There was a time when perfection was an ideal to which we all aspired even though we knew it to be unobtainable. In the culture of Christian Europe we were all imperfect in the eyes of God and relied on the Saving Grace of our Lord, Jesus Christ. There was a cultural shift in the 19th Century when self improvement and perfectibility in this life were seen as desirable norms. For good or ill the process described above by Dr Lisa Bridle is a result of that 19th centure cultural shift. At the beginning of the 21st century advances in genetics present us with the prospect of implementing the Victorian dream. But as Victoria Lambert concludes this new power has serious potential drawbacks and should be used with caution.

Bigger and better antenatal testing may thrill research scientists and may be of enormous importance to those parents who are very clear in their minds about the family they want to bring into the world. But for some of us, there is a grave danger that their very ease and simplicity make life-and-death decisions too easy to take - and to regret.

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