Wednesday, February 25, 2009

New Safety, New Concerns In Tests for Down Syndrome

A handful of biotech companies are racing to market a new generation of tests for Down syndrome, a development that promises a safer way to spot the most common genetic cause of mental retardation early in pregnancy even as it weaves a thicket of moral, medical, political and regulatory concerns.

My friend Becky sent me a link to this article, thinking I might find it interesting.

Indeed I do. And I have been following this development for months with enthusiasm and excitement. (Though I am uncomfortable with some of the wording/phrasing within the piece, that's pretty much par for the course with this type of reporting.)

My perspective on prenatal testing and Down syndrome differs widely from that of many other parents of children with Trisomy 21. Ellie was diagnosed prenatally, and so was Ada (with her oh-so-typically configured chromosomes). With Ellie I had the quad screen (second trimester maternal blood test, safe for mom and baby but very high rate of false positives - and negatives) followed by a targeted ultrasound (aka "Level 2") that picked up markers for Down's, culminating in amniocentesis because I just needed to know and to prepare myself by that point. With Ada I had chorionic villus sampling, CVS, late in my first trimester. I've only been pregnant twice, I've had prenatal testing twice, and I've chosen not to terminate twice. So that's my story.

I'm someone who needs to know everything I can, to understand as much as possible, to feel like I have control over a situation. Pregnancy was no exception to that. For me, knowing as much as possible, as safely as possible, as early as possible sounds GREAT.

I share the concerns of many other parents of children with Down syndrome that earlier, safer, and more widely available diagnostic tests will lead to fewer children born with Down syndrome and worse community support and acceptance for people with Trisomy 21.

"We have a history in this country of a eugenics movement where people tried to eliminate certain people from the gene pool," said Andrew J. Imparato of the American Association of People With Disabilities. "People could start wondering, 'How did you get born?' "

I just disagree about the right way to address the problem. I'm giving a talk to a group of obstetricians next week about delivering difficult news to moms whose babies have been diagnosed to Down syndrome prenatally. There are some things my doctor did that were great, and others that she (and her office) could have handled much better.

I think that educating people and eradicating fear of the unknown are critical. I think that talking about Ellie and sharing our experiences together are important parts of the process. I think that doctors doing a better job of talking to pregnant women about the diagnosis is necessary.

But I don't think that limiting access to information is at all helpful. I trust women to make their own decisions about what testing they choose to have throughout pregnancy. I trust women to make their own choices about how they manage that information. I think that my job, and the job of each pregnant woman's healthcare team and the community at large is to help women as they research and learn and decide as they see fit.

I can't see this as simply a personal decision; it's also political. And I can never see this as purely a political decision, either. In this case, the two are inextricably combined for me. And I hope that gives me an extra bit of compassion for families dealing with the uncertainty surrounding pregnancy, prenatal testing, prenatal diagnoses, and decisions about whether or not to terminate.

I see this scientific breakthrough as a call to action, not a threat to my child.


D.A. Riser said...

Wow, I've not encountered the testing issue before and am hardly knowledgeable enough to speak one way or the other on its issues, but I think it's great that you're involved in discussing these issues with the doctors and others in your community. Just as in writing, dialogue is everything!

Sarahlynn said...

I was thrilled to be invited! Oddly enough, it's the second of two public speaking gigs I've got next week (the first involves a video interviewing parents of children starting Kindergarten next fall).

I very much agree with you about dialogue.

Cate said...

The testing thing is so fraught.

Good luck with the speaking. Will you post a version of what you say? I'm curious to compare; I have a long list of the good/bad things that happened around diagnosis (not prenatal, surprise in the delivery room) and I keep meaning to write it up to send to my OB.

Sarahlynn said...

It is. But I just can't judge women for wanting to know and to choose for themselves, since that's what I'd want in the same situation. In fact, it's what I did in that situation!