Prenatal Genetic Testing and Lots of Questions
Currently, there’s no prenatal genetic test for autism. Long ago (as in “around the time I first started writing this blog”) I referred to such testing as “fighting word“: While some would welcome the notion of knowing that a child-to-be would have a disability, others have been quick to point out the possibility of people choosing to abort a fetus if a disability were detected.
In the October 13th Babble, an online web community for a “new generation of parents,” Karen Dempsey writes about Choosing (a) Life: They said our baby would have Down’s; we said we understood. We had no idea. Having conceived her second child after a year of infertility treatments, Dempsey was concerned that the “risks of amniocentesis outweighed the chances it would detect a problem.” During an ultrasound, the radiologist detected other possible signs of Down Syndrome (echogenic intracardiac focus, or EIF; the size of the baby’s nose). Dempsey and her husband knew they were going to have their baby, no matter what. The article depicts Dempsey’s emotional state and thoughts while awaiting her daughter’s birth:
One sleepless night near the end of my pregnancy, I lay in bed with my heart racing, remembering that tiny star from the ultrasound. Were we kidding ourselves, pretending we could just take things as they came? I couldn’t calm myself, though I was desperate to sleep. I tried relaxing by tightening and releasing the muscles of my body one by one, beginning at my toes. I should pray, I thought. I should pray for her. But what did that mean? She was there, fully formed inside of me. I could feel her knees and elbows, her stubborn round head. I didn’t believe in a prayer that would change her genetic makeup; she had Down syndrome, or she didn’t. And so what would I be asking for, a different baby? I’d already chosen to have this one. I finally found peace, and sleep, with the thought, She is who she is. Already, she is who she is, and she is mine.
Liddy does not have Down’s Syndrome, but she has a number of medical conditions: a heart murmur caused by a congenital heart defect, swollen kidneys, an elevated white blood cell count, severe gastroesophogeal reflux disease. Dempsey writes of what testing could have told her and what it could not have:
An amniocentesis would not have predicted Liddy’s complications, or prepared me for the realities of having a sick child. Caring for Liddy challenged my marriage, my family relationships, my friendships and my mental health — my very way of being in the world. John and I were naïve. We would learn, through Liddy, the awe-inspiring breadth of medicine’s understanding, as well as the frustration and grief of its limitations — and of our own.
There’s no question in my mind that we were going to have Charlie when I was expecting, “whatever” he might have. Dempsey’s experience seems to me a potential harbinger of questions that parents may find themselves facing should more prenatal tests be developed, including these tough questions:
Will medicine suggest that any and every variation from absolute normalcy is pathological?
How can we draw lines between disabling diseases such as severe autism and more mild differences such as Asperger’s, which may give society some of its greatest achievers?
Will parents have complete say over the kind of children they want to bear?
And what sorts of messages will doctors and genetic counselors convey when talking about risks, probabilities and choices that involve not life and death but personality and sociability, genius and geekiness?
Tough questions and big questions. Here’s two perspectives, one from a scientist and another from the father of an autistic daughter.
For myself, I would to some extent have appreciated knowing Charlie’s diagnosis as early as possible. Perhaps it’s from the memory of all my wondering, worries, and confusion during Charlie’s babyhood, when subtle things said “things are different,” but nothing stood too much out, and no one wanted to say “maybe he needs to be evaluated by a specialist.” On the other hand, before there might be such a test, it seems all the more imperative to—like parents of children with Down Syndrome—present a hopeful message out there about autism, with an emphasis on how it’s not a dreadful death sentence, and that we know a lot more and can help a child greatly.
When I tally up all the things that have happened to Jim and Charlie and me since Charlie was diagnosed, it’s a rich harvest of experience, with some really tough and awful times (because society and communities did not know what supports and services to provide him with to thrive) and some so good, you can’t imagine life without them.
Following up on the harvest theme, today is “harvest theme day” at the b5media Health and Wellness channel. Wishing you a day of plenty and of sunshine, and of good times with those who walk with you.
Tags: abortion, asd, asperger, autism, autism blog, disabilities blog, disability, dna, down syndrome, Education, genes, Genetics, Health, parenthood, pregnancy, prenatal genetic testing, special education, ultrasoundRelated Stories
POSTED IN: Baby, Disability Rights, Family, Genetics, Health, Parenting, Science
12 opinions for Prenatal Genetic Testing and Lots of Questions
Mouse
Oct 14, 2008 at 6:36 am
I went to a fertility doctor to discuss my two miscarriages; he got really stuck on the idea that my son might have Asperger’s and kept bringing up the idea of getting genetic testing, even though I told him multiple times that the genetics has not been pinned down yet. He obviously didn’t really understand what I was saying or why I was willing to “take another risk.”
In some ways, however, I do wish there were a way to test–we finally got an evaluation last month and the conclusion was “Come back in another year.”
Marla
Oct 14, 2008 at 11:37 am
I think genetic testing is important and could be very beneficial in diagnosing and knowing what to look for as far as health concerns go. I believe most adults are responsible enough to understand that with this knowledge comes a responsibility to honor the life that is within them, disabled or not.
Another Voice
Oct 14, 2008 at 12:35 pm
I fear the prenatal test for autism. I feel it will result in the abortion of unborn children who show any signs of autism. The prenatal test for Down Syndrome has resulted in far fewer births of children with Downs; some numbers reflect a ninety percent abortion rate for those with a high probability of downs.
Given the horror story that has been painted of autism by certain very loud factions within the autism community, the drop in live births of children with indications of autism could exceed the drop we are seeing with Down.
alyric
Oct 14, 2008 at 12:43 pm
Seems there are three sorts of genetic associations for autism - associations that are rare in the autistic population, associations that are frankly baffling because they are common in the general population and de novo mutations. Genetic testing isn’t going to catch the last one, though the second sort may be ‘fixed’ on the basis that having five out of ten carries a certain risk. Naturally, that risk is inflated.
I’ve always thought that particularly with the second sort, the commonest genetic association with autism that if they came up with an estimated risk and scared enough parents into aborting, that what they’d end up with is very indifferent kids. People tend to forget that autism, absent mental retardation, is as much characterised by potentially beneficial traits as by deficits. Look at the parents.
Ofr course if you worship at the altar of interpersonal skills, then indifferent but socially able kids might be entirely satisfactory.
Another Laura
Oct 14, 2008 at 1:20 pm
Speaking from personal experience, I’m quite certain of two things: (i) if my fetus tested positive for a predisposition to autism, I would have aborted; and (ii) such an abortion would have been, without question, the biggest mistake of my life.
What Did You Do When You Were Expecting?
Oct 14, 2008 at 1:21 pm
[...] considered prenatal genetic testing and autism, what about the possible influence of the environment of the womb on a developing baby? [...]
Emily
Oct 14, 2008 at 3:59 pm
We did some genetic testing, the quad screen. No amnio, no CVS. Level II u/s were also done for each pregnancy. I wouldn’t have aborted–these tests are done at 16 weeks at the earliest–but I wanted some testing so that I would better be able to prepare myself if there were anything for which I could try to prepare (we can never REALLY be prepared, no matter what). And had I known any of what I know about any of my children, I would have had them anyway, both a priori and a posteriori.
New Method For Genetic Screening in ASDs
Oct 17, 2008 at 1:01 pm
[...] time you say genetic testing, some people automatically think of pre-natal testing,” Buxbaum said. “This is more about giving an etiological diagnosis to children with [...]
Births of Down’s Syndrome Children Up in the UK
Nov 24, 2008 at 4:10 pm
[...] births. “It seems to show that more parents are thinking more carefully before opting for prenatal screening and termination – that being born with Down’s syndrome is being seen in a different light [...]
National Screening Halves Number of Children Born With Down
Nov 30, 2008 at 2:45 pm
[...] births. “It seems to show that more parents are thinking more carefully before opting for prenatal screening and termination – that being born with Down’s syndrome is being seen in a different light [...]
momof4
Dec 1, 2008 at 4:12 pm
I refused any testing past the basic ultrasounds on all my kids. I would never have aborted, and as my OB said, why get it if it won’t affect the outcome? From reading other websites and blogs, I can honestly say the picture I get now is that it’s seen as irresponsible by most people to give birth to a down syndrome child. That you should have known better, and aborted. Drain on society, rough on your family, the kid suffers (what kid doesn’t???) etc etc. I have no doubt that such will also occur for every “disease” we gain the ability to test for. Eugenics is pernacious and sneaky, and will slip in through the smallest crack in medical diagnostic abilities.
The Prenatally and Postnatally Diagnosed Conditions Awareness Act
Dec 7, 2008 at 2:39 pm
[...] tests to identify autism in younger and younger children being developed—and even the possibility [...]
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