New Prenatal Test for Down Syndrome: a Parent’s View

Copyright © 2011, Stephen Hawley, all rights reserved.

There is a new prenatal test to screen out Down syndrome, announced this year.  This is of particular interest to me on a number of levels.  This test, unlike the current state of the art is a non-invasive blood test and can be done in the first trimester.  This test is highly accurate (it’s a 98.6% accurate test with .2% false positive) and is lauded as a way to eliminate Down syndrome from the general population.

I spent a great deal of time thinking about this and I have two problems with this.  First,  it presupposes that nobody would want a child with Down syndrome or that people with Down syndrome add nothing to our society.  The second is more insidious.  If this test is only practical for those who have health insurance or affordable health care, what portion of the population will be relegated to having children with Down syndrome?  Yeah, you got it: the people least likely to have the means to raise a child with disabilities.

My main objection to the first supposition is that it is naive and trivially disproved.  All people, I believe, have some value and I believe that people with Down syndrome have a great deal to offer all of us.  I’m quite happy to be taught things by my daughter all the time.  The main problem is that my depth of understanding is in the minority.  And I will be the first to admit that despite my goals of being a well-educated person, my own knowledge of Down syndrome was very small and my ignorance huge.  I’m glad that has changed.  Yet, there are far more people who are ignorant and are willing to take a veiled opinion as fact, or are dealing with a doctor who is just as ignorant.  To give you a sense of the insidiousness of language, how many of you (and be honest) caught the use of the word “normal” instead of the preferred word “typical” in that article.  To be clear about where I stand on that: I’m certainly typical, but I'[m hardly normal.

The second issue is worse in that if it comes to pass, Down syndrome will become a class condition and not a uniform condition.  Up until now, it was a condition that was uniform across the entire human race.  It didn’t matter what your race or social standing is, the percentages don’t change.  If health insurance isn’t made available to the entire population, Down syndrome will become a social class condition.  I believe it will particularly bad because I think that those who do not have the means to afford health care will also be least able to do proper research, have access to information, and be good advocates.  Further, if they didn’t have health care to start, how will they afford the extra care their child will likely need?  Finally, available options and research to help those with Down syndrome won’t happen.  Don’t think so?  Read this article.

The final problem will be that without the voices of advocates, all that has been gained in the past 40 years in terms of putting people with Down syndrome into society instead of cloistered in an institution is at risk of being lost.  Let me remind all of you what’s at stake here: people with Down syndrome left in institutions lived short, sad lives with little meaning.  People with Down syndrome who are raised in a loving home and cared for and accepted by their community live long, happier, more meaningful lives – and we all benefit from that.

You might be thinking that I am against this screening.  No.  I am not.  You might think that I am for this screening.  No.  I am not.  Instead, I’m am a strong believer in choice.  I didn’t have a choice with my daughter with respect to Down syndrome.  Raising her well has been the most challenging thing I have ever undertaken,  yet I’m choosing to accept that challenge with my eyes as wide open as I can manage.

And that I think is the crux of my opinion on the matter:  I think that people should be given the opportunity, when offered the screening and when offered a positive result to make a well-informed choice, not an ignorant one.  So make the information better.  Make a positive test come with a session with an unbiased genetic counselor.  Make an offer to answer questions openly and honestly.  And please, continue to improve acceptance of those with disabilities in our society.  You’ve done well, but there is more to do.  For example, the cognitively impaired are still considered to be a fair target for deprecating humor.  Work on that.  I trust you.