A Lot of Knowledge Is Not a Bad Thing: Prenatal Testing and Diagnosis
March 7, 2007 by Kristina Chew, PhD
Filed under Health
…..even though we haven’t begun to explore the ways in which we could include people with disabilities in our society, we devote precious time and resources to developing better ways of spotting them before they are born. —- Michael Bérubé, Professor of English at Penn State University
Back in the earlier days of this blog, I referred to “prenatal genetic testing” as a “fighting word“: Simply put, the notion of a prenatal genetic test for autism brings with it the possibility of expecting parents finding out that their child-to-be has autism, and of the parents choosing not to have the child—-of eugenic abortion.
Bonnie Ventura of Aspergian Pride notes in a 2005 interview that “Autism prenatal testing would have no purpose other than abortion. Such a test would stand in stark contrast to other prenatal tests that have legitimate medical purposes”; in contrast, she notes how a prenatal test for neural tube defects has made it possible to “cure or greatly reduce spina bifida” by surgery on a fetus who is still in the womb. Today on Genetics and Health, Dr. Hsien Hsien Lei writes about a recent conversation she had with Dr. Ravinder Dhallan, who is the Chairman and CEO of Ravgen, whose webpage notes that “if you can’t diagnose it, you can’t treat it.” Ravgen is offering a prental test that analyzes fetal DNA in maternal blood. This is a much less “invasive” test for both mother and the unborn child that only requires a blood draw. As Dr. Lei notes, Dr. Dhallen emphasizes that
prenatal tests like Ravgen’s are just extra tools to be used in prenatal diagnosis. Genetic testing won’t ever replace technologies like ultrasound that’s capable of diagnosing structural abnormalities in the fetus. However, there is great promise for prenatal tests that can analyze specific genetic loci and mutations.
The Ravgen prenatal test is currently only for use to detect Down’s syndrome in which there is an extra chromosome 21; another possible genetic variation that such a test could detect is a p16 mutation, which predisposes one to melanoma. And as prenatal testing becomes easier, it can be said that the ethical questions we face about what to do with the results become more complicated, as Dr. Lei writes:
….the impact of making prenatal testing even easier than before means that more of us will be under pressure to find out all we can about our babies and to to make sure our children are as perfect as we can make them. On the other hand, it also means that parents and healthcare providers can be better prepared to handle a child with special needs once he or she is born.
As I wrote yesterday, I think it is helpful to get a diagnosis of autism as early as possible. Before Charlie was diagnosed with autism, I felt like I was in a state of free-fall, my mind full of questions (”do you think he’ll ever talk?”, “why is the tape compartment on the CD player the only thing he plays with?”, “why, as we walked into Office Max, did Charlie fall to all fours and hit his head on the linoleum?”). Other than averted eyes and hesitant, sympathetic smiles, there were no answers from the doctor, well-meaning relatives and colleagues at work, Charlie’s daycare teachers. No one wanted to be the first to say “autism”—because, as I look back, everyone equated the notion of Charlie being autistic with a worst case scenario—-that an autism diagnosis is a fate worse than death. This kind of alarmist thinking can impel parents into treatments and therapies that make claims for cures and recovery that are misinformative and that, I think, do not encourage a parent enough to think about how, while life with an autistic child may well turn out to be other than one might have expected, this does not mean that it cannot be a good life. An autism diagnosis is not a death sentence. An autism diagnosis is not “the end” to a story, but the preface to a new beginning—to an unexpected childhood, and a journey into places I had never been able to imagine until Charlie was walking with me.
As a teacher of college students, I think it is imperative that no knowledge, no facts, no information, be withheld from them. I teach about ancient Roman society, which produced Virgil, whose poetry with its evocation of “the tears of human things” (sunt lacrimae rerum, Aeneid 1.462) has sustained me. I teach about Roman society, in which most of the laws and legal rights applied only to the members of the senatorial or patrician class; in which untold numbers of slaves lived lives that were (in the words of a later philosopher), “nasty, brutish, short, and solitary”; in which a paterfamilias—the head of a Roman household—had the right, according to the ancient Twelve Tables, to put to death a deformed child. And I think this same sense that it is better to know, to get all the facts out on the table, and then to think and judge and discern, is why I think it better not to shy away from a diagnosis, or even prenatal genetic testing.
“Prenatal genetic testing” and “cure” and “epidemic” are still “fighting words,” are grounds for debate in autism discussions. But that does not mean that we have to shy away from them when we ought to address their implications. The word “diagnosis” is from two ancient Greek words, dia meaning “through” and gnosis meaning “knowledge”: Understanding Charlie’s diagnosis has been a process of slowly coming to know what autism is through our day to day experiences with Charlie, through living with autism every day.
And a life without Charlie is a life that neither I nor my husband Jim can imagine, nor would we want to.
Shortly after I put up this post, I read Professor Michael Bérubé on We still don’t know what ‘normal’ really is. The quotation at the beginning of this post is the last sentence of Professor Bérubé’s essay; another excerpt follows and reiterates the point I ended my own post on:
It’s true that most people — between 80 and 90 per cent — who screen for Down syndrome will terminate the pregnancy if the results are “positive.” I wish this weren’t so, but I don’t believe I should try to realize that wish by outlawing either abortion or prenatal screening. I believe I should try, instead, to persuade others that the possible eradication of Down syndrome just isn’t something our species has achieved, or should achieve, any consensus about.
I didn’t think it was worth it to screen for Down syndrome when Janet was pregnant in 1991. And back then I didn’t have any idea that our “disabled” child would go on to learn elementary French or the characteristics of 40 different species of sharks. I didn’t dream that he’d be such a capable swimmer and basketball player, or such an enthusiastic fan of Harry Potter.
Now that I know what Jamie is like, I’ve come to the conclusion that our fear of mental retardation is out of all proportion to the phenomenon itself, and that millions of “developmentally delayed” people can live happy and fulfilling lives — far happier and more fulfilling than most of us “normal” and “gifted” folk have been able to imagine.
I’m a pragmatist, and I’m afraid that I’m going to have to side with Dr. Lei on this one.
Your opinion is one formed after spending years with Charlie.
Experience with testing for Down’s has shown us that no matter how much “testing so that one can prepare oneself more fully” is espoused, it rapidly devolves into “testing so that one may be heavily encouraged to dispose of the defective”. There is a lot of external pressure (combined with fear of the unknown, family pressure) to abort “defective” fetuses.
I say do all testing post natally. There will still be plenty of time to prepare (just no more time for convenient disposal).
I hardly ever see Down’s syndrome or mentally retarded kids anymore. Also: if you’ve ever been in preschools of some East Asian countries, as I have, you’ll see mostly boys in the classroom. People already are terminating girls, so of course people are going to do it for other reasons. I remember when I was pregnant and was told about the test for Down’s syndrome. I said, “And what if my child does have it? Then what?” The doctor looked at me like I was stupid. Suddenly I realized what she meant. But no, she couldn’t actually say what she meant. How pathetic is that?
I don’t know – hindsight is a great thing, but if I had known that one of them was going to be autistic rather than deaf, I’d have spent my pregnant months in a completely different part of the library. There again, as it turned out, he is not deaf.
Cheers
Thanks for the link… do you have your software set to auto-delete any comment with a URL in it? I was trying to give you a link to a post by Zilari that expresses views similar to yours, but my comment disappeared.
I’ll try posting only part of it and see if that works:
partprocessing.blogspot.com/2006/08/abortion-eugenics-and-fear-of.html
I am horrified at the idea of what treatments would be offered to an “autistic” newborn. Already there was an idea presented at IMFAR a few years ago that if you could just encourage or enforce eye contact with an infant, he’d never slip away into autism. It was slightly more complex than that, but not much.
People are so afraid of “autism” now they’d be willing to let a child be experiemented on in order to avoid the fate worse than death, a non-verbal autistic child… maybe one like the 10 year old “D” who says he’s glad to be who he is. People are so afraid of autism they’d try prenatal “therapies” to keep an kid from being autistic, that’s if they decided to keep the baby at all. I don’t think it would be helpful for parents to know ahead of time that their child would be born autistic. One could make the case for some disorders like hydrocephalus, where a shunt can be implanted in utero to save the brain from water pressure. Most disabilities don’t require that kind of early detection to be dealt with successfully. I’m not entirely sure that it’s that beneficial that they know the baby is going to have Down syndrome. It just pushes the shock back earlier, and allows for abortion. What? Does a Down baby need a different layette set or different foods immediately available that wouldn’t be available anyway?
Of course, giving birth to the baby and facing the shock then allows for the parents to adopt the baby away, and it seems that there are loads of people willing to take those unwanted Down babies, from what I’ve heard.
I refused early testing for down’s syndrome with this current pregnancy. When I went for the ultrasound, the doctors found that the baby has a calcium deposit in her heart. It is not harmful for her heart, but it increases my risk for having a baby with down’s syndrome, I was told. All other factors did not point to the baby having down’s syndrome though. Her size is normal for how far along I am (maybe even bigger) and there is no thickness in her neck, so although the doctor does not believe that the baby has down’s syndrom she “had to” give me the information of my increased risk. When asked if I wanted further blood work or if I wanted an amnio, I refused. “I will have her regardless” I told the doctors. Some may think I should find out one way or the other to prepare myself, but I am prepared for whatever God gives me. As far as knowing if this baby is autistic or not, I will be looking for signs from day one. Yes, this is because of the fact of me already having a child with autism, so I do tink it would be good for others who do not have an autistic child to have prenatal testing to prepare themselves, if that is what they need. I do fear that others who do not have an understanding of autism will terminate though. That is just too scary, to think of mothers terminating any child, be it disabled or not.
My mother says all the time that “we know too much nowadays”. I guess it depends on how you look at it.
Just a point of clarification: there is fetal surgery available for spina bifida that will close the myelomeningocele in utero instead of shortly after birth, and it appears to minimize the development of hydrocephalus and the Chiari brain malformation in the developing fetus, but it does not cure spina bifida. It’s also not clear what the impact of the surgery is over the long-term because the surgery is relatively new (less than 10 years).
Another point of clarification, re: Ms. Clark’s comment: fetal surgery to insert a shunt in utero used to be done for hydrocephalus, but studies showed that fetal surgery was no more effective than surgery to insert a shunt shortly after the baby was born, so fetal surgery for hydrocephalus is not very common anymore.
One more addition re: spina bifida – the benefit of knowing about it prenatally, even for parents who would plan to carry to term, is that a C-section is recommended for babies with spina bifida because a vaginal birth can cause further problems for the baby.
To clarify: I guess I was writing from the position of optimism (and perhaps of too much idealism), as far as attitudes about autism. I remember well the moment when the OB-GYN explained the Down Syndrome test to me and I realized how little the results meant to me—I could feel Charlie moving in me and knew that it didn’t matter “what” he might have, he was Charlie. I guess I feel it’s all the more important that we who know that life with autism is not a tragedy etc. keep sending out that message. I will, certainly.
Bonnie, I’m not sure why the URL is not going through—sorry about that. You can send me an email with any comments that did not go through and I’m checking about the URL issue.
I’m with club 166, all testing post natally.
As you know Kristina I had a baby with a neural tube defect(anencephally)that was still born at 26 weeks.
Mary Roses’ condition was picked up on a routine ultrasound at about 15 weeks. With anencephally the baby cannot survive, and normally dies shortly after birth.
I refused an abortion as it goes against my Christian beliefs.
Abortions will certainly increase if autism can be detected in utero.
And I am yet to be convinced of the benefits for such a test.
I have a friend who lives in Sydney who had a gorgeous( down syndrome)baby boy 3 years ago.
She refused pre natal testing, and was constantly badgered by health workers for her refusal to do so. They could not accept the fact that no matter what God gave her, she would love her baby regardless.
She rang me one day in tears as it was really upsetting how people could be so callous and dismissive of her beliefs and feelings.
Of course she thanks God every day for her precious little boy. “The light of our lives” she says. Btw she also has an autistic boy Charlies age who adores his little brother!
Just to finish, Kristina, I am having a Birthday dinner for my sister-in-law tonight.
She is certainly the life of the party.Has a great sense of humour, and is sharp as a tack.
Oh,and she has Downs Syndrome…
HAPPY 43RD BIRTHDAY CASSIE!
Tonight I am having a birthday dinner for my sister-in-law. She will be 43. She has a great sense of humour, and is as sharp as a tack.
We are all looking forward to it.
She is certainly the life of the party
Sorry for repeating those last four lines Kristina, am rushed this morning it’s 7.00 am here in West Australia, and I have a lot going on today!
Those lines more than bear repeating!
I have to disagree with the idea that “if you can’t diagnose it, you can’t treat it” at least with regards to autism. It is quite possible to recognize and accomodate autistic traits without a diagnosis. Yes, a diagnosis of autism can be helpful and useful, but that’s mostly because our culture is so very medicalized. But what if we were better able to accomodate different needs and ways of thinking even without a label? Liane Holliday-Wiley wrote that in an ideal world there wouldn’t even be a need for the name “Asperger’s Syndrome”, and I think there’s definetly something to that. (Though I would extend this idea to the entire spectrum.)
I did a paper in one of my courses last year on the rhetoric of blame and burden in wrongful life/birth lawsuits (parents and individuals who sue their physicians for wrongful birth and life). Many of the arguments in those cases are grounded in prenatal testing and the failure of such tests to detect disabilities and terminal conditions.
Therefore, I worry about prenatal testing in regard to autism because of the ways in which autistic individuals will be identified through bio-medical discourses as “deformed,” “abnormal,” and “impaired.” While the use of these words might seem ubiquitous at best, I think they, in turn, construct our own views on autistics as “deformed,” “abnormal,” and “impaired.” Likewise, medical and media discourses on prenatal testing is often based on the construction of the fetus as “suffering” economic and emotional “burdens” on families. The implications seem that autistic children and adults become “impaired, suffering burdens” on their families.
I think it’s also important to note that the prenatal testing that has been discussed so far in this forum and in other bio-medical discourses involve terminal and life threatening conditions. However, autism is neither life threatening nor terminal. Autism is also not painful and autistics do not “suffer” from the developmental disorder. Constructions of autistic individuals as “suffering” and “burdens” are all the more relevant because it’s important to question who’s “suffering” are the tests attempting to resolve, the autistic individual or the parents?
Finally, I think it’s also important to note that autism is a developmental disability. While autism has connections with other physical conditions (leaky bowl and epilepsy to name two), the condition itself is based on a developmental disability, not a terminal condition with a specific locus where an “abnormality” occurs. Prenatal testing of autism is not like identifying an extra chromosome, there is no central location in the brain to study.
Rochelle: Thanks for pointing out the “rhetoric of blame and burden”—which seems to be the sort of language too often used regarding disability, and autism in particular, in general discourse.
Mom-NOS: Thank you for the clarification(s)—Mamaroo: thanks for telling us about your recent personal experience.
Club 166: I tend to more generally to be a pragmatist…..
Sarah: Classics is my academic field, and discourse about illness in the ancient world is not medicalized: Hippocrates uses amalogies to the every day world (the crust that develops on bread to describe medical processes and conditions. I’m thinking on your point that “what if we were better able to accomodate different needs and ways of thinking even without a label? “.
Just to clarify my own post.
When I said do all testing postnatally, I was referring to testing for Down’s, autism, and other disorders where there is no prenatal treatment (save termination).
I wholeheartedly support prenatal testing and treatment where it is indicated to improve the quality of the soon to be born person’s life.
Kristina Chew says:
“And a life without Charlie is a life that neither I nor my husband Jim can imagine, nor would we want to.”
Hi,
Follow me in a hypothetical thought experiment. Imagine that your Charlie had been born a “perfect child” as seen by most people. Suppose he were to grow up to be–depending on your preference, an all star New York Yankee shortstop or Nobel Prize winning scientist. Call him Charlie II.
Would you then make the above quoted claim?
Now suppose that as the result of prenatal genetic testing Charlie I had been aborted and 6 month later Charlie II conceived. Think you would still choose the Charlie I that was never born to the Charlie II that was never conceived?
Of course not. Because we only know the things that ARE and not the things that might have been had we made different decisions.
I don’t particularly like being “out” about being autistic. I like my privacy (or used to). But I am writing and speaking and doing interviews using my real name, hoping to dispel at least some of the “horror” that would lead people to choose to abort a perfectly normal autistic fetus (you can argue with my word choice there if you want). A lot of times I can’t get to sleep at night because 1) I am worrying about the consequences to me of using my real name publicly, or 2) I am worrying about the day when we will be eliminated from the gene pool, or 3) both.