Monday, May 14, 2007

Down Syndrome Babies: An Endangered Species?

Recent developments in genetic testing are revolutionizing the ability to test for a variety of genetic disorders in unborn babies. Before now, this required a difficult, painful, and potentially hazardous procedure called amniocentesis, ususally reserved for expectant mothers over the age of 35. Amniocentesis itself carries a 0.5% miscarriage rate, but it has been used to diagnose such conditions as Down Syndrome, Tay-Sachs Disease, Sickle Cell Anemia, or Duchenne Muscular Dystrophy.

Now there is a simple blood test, recommended for all pregnancies, that reduces the risk for moms, but may dramatically increase the number of genetic disorders diagnosed prenatally. If past history is any guide, this means that 90% of women whio are told their baby has Down Syndrome will choose to have an abortion (reference).

What will be the results of such selection? Well, for one thing, fewer babies with diabilities - and this has many parents who advocate for them rather worried:
A dwindling Down Syndrome population, which now stands at about 350,000, could mean less institutional support and reduced funds for medical research. It could also mean a lonelier world for those who remain (NY Times).
Parent advocates are worried that doctors don't know how to handle the genetic information they now so easily obtain with two blood tests and a sonogram. Many physicians agree -- the best way to share a genetic diagnosis is not: "Your baby is going to be mentally retarded, you should have a pregnancy termination."

This does not mean that the future will be easy for parents who decide to carry their diabled child. But parents of the disabled see the new form of testing as one more step towards a society that doesn't welcome any imperfections. Commentator George F. Will called it a "search and destroy mission" for the handicapped (Will has a grown son, Jon, with Down Syndrome). In complaining about the new recommendations, he adds:
What did Jon Will and the more than 350,000 American citizens like him do to tick off the American College of Obstetricians and Gynecologists? It seems to want to help eliminate from America almost all of a category of citizens, a category that includes Jon (Newsweek).
Imagine a society where every one of us is genetically perfect, where none of us must strive for the small, daily steps of success that mark our physical, emotiojnal, and mental growth. I, for one, would not want to live there.

New York Times Article

3 comments:

J.Francis said...

Excellent post Dr Sullivan. This is certainly eugenics being practiced on an international scale! Your point is well taken regarding the sterility of a genetically perfect world. However, what if we could cure Down syndrome at the embryo stage? What ethical dilemmas would this raise? Is this a possibility technically? How would a Christian bioethics view a cure for Down syndrome?

walkerma said...

I applaud the introduction of a simple blood test that will reduce the risks associated with current testing methods. I think it is a bit of a stretch to assume that this will lead to more pregnancy terminations. As j.francis suggests the test offers the potential for early intervention.

The use of the statistics cited in the paper to predict the outcome of the blood test is flawed since it doesn't consider the circumstances under which these women sought testing.

Dennis Sullivan said...

My thanks to those who commented on this post. To j. francis, I would respond enthusiastically to a cure for Down syndrome. At present, genetic therapy is in its early experimental stages. True genetic cures lie far in the future. Currently, the only "treatment" for genetic diseases is to eliminate the patient.

To walkerma, I agree that statistics can sometimes mislead, but in a world where amniocentesis and cvs routinely lead to abortion when defects are found, I can't imagine that the incidence will decrease because genetic testing is easier.