Genetic counseling and prenatal diagnosis are interwoven in a double helix. It is no coincidence that the genetic counseling profession emerged on the heels of the first “genetic” amniocenteses in the late 1960s. Amnio’s and maternal serum screening (MSS) for Down syndrome were the driving forces behind the expansion of the GC job market, fueled by the sudden blossoming of “advanced maternal age” pregnancies that began in the mid to late 1970s and has continued unabated for 30 years. Not only did prenatal testing open up job opportunities, the attendant laboratory, professional, procedural, and overhead fees opened up significant sources of income to medical centers and physicians and provided funds to cover GCs’ salaries.
Prenatal diagnosis also offered GCs the opportunity to develop a unique clinical expertise in risk assessment, interpretation of amnios and MSS results, and patient communication that established clinical value of GCs for patients and referring physicians.
But for all the economic and professional benefits it provided GCs, prenatal diagnosis has its dark side. A number of critics have rightly pointed out that the unwritten message of prenatal diagnosis – as it is perceived across a fairly broad social spectrum –to people with disabilities is “Sorry, you’re not welcome here.”
Yes, I know the counter-arguments. Nobody is forced to have an amnio or an abortion. Parents have their reproductive rights that we unflinchingly support. We all work hard at not trying to consciously influence the routes our patients choose as they travel down the Decision Making Highway. Many of us proudly point to our many patients who have elected to continue such pregnancies. We also fight the good fight for people and families living with disabilities, helping them in their struggles with insurance companies, educational systems, and a complicated and sometimes uninformed medical system.
Hooray for us. That is what we are supposed to do.
But our protests that we are supporting women’s hard earned reproductive rights rather than implementing an evil eugenic agenda does not change the way the message is perceived. The availability of widespread prenatal diagnosis is based on the assumption that most parents will selectively terminate fetuses with disabilities, an assumption supported by most published studies. As I have pointed out in other venues, the decision to use age 35 or older as the indication for amniocentesis was not based on some mythical figure about the risk of amniocentesis. Rather, age 35 was chosen primarily on economic grounds, i.e., by that age, the societal cost of amniocentesis was less than the cost of caring for people with Down syndrome. Let’s face it – many parents will choose to avoid having a child with disabilities if they can do so, and that is what drives prenatal screening.
In the eyes of our critics, GCs play a critical role in the delivery of prenatal diagnosis services, and therefore support the implicit negative message. We are guilty by association if not necessarily by intent.
I do not know of an effective counter argument. Either we choose to acknowledge that this is indeed a valid criticism, the world is sometimes a harsh place, and that is a hard truth of living in a world where women struggle to achieve a full range of reproductive choices. Or we pull out of prenatal diagnosis altogether. I do not think the latter choice is likely to happen.
What are your thoughts? I look forward to reading your comments and insights. But keep in mind the words of Samuel Beckett’s character Estragon, in Waiting for Godot: “Let us try and converse calmly since we are incapable of keeping silent.”
12 responses to “Our Uneasy Relationship with Prenatal Diagnosis”
You make some good points. And I agree that our profession should be cognizant of the circumstances from which we arose. My only counter argument is: Would women be better off without us? I think even if genetic counseling had not gained any traction in the early days, prenatal diagnosis would have developed to its current point regardless. I take solace in the fact that we as a profession genuinely strive to provide unbiased risk counseling to pregnant women. Even at the risk that it is not always perceived that way.
I’m glad to have found this blog and plan to check back often. As a totally blind genetic counselor, this topic has always been quite interesting to me. People think I went in to the profession to “rid the world” of disability because of my own disability. My reasons were quite the opposite. I really enjoy prenatal counseling because I do give unbiased information but even though I do this, I’ve had several patients tell me at the end of a session that they think it’s inspiring to see a blind person working in the medical field and although I’ve given me unbiased info, they are thinking about disabilities differently. Sure, blindness is different than Down syndrome, but it’s the idea of disability that is so scary to most people, not the disability itself. I do understand the disabiloity critics’ comments and thoughts on prenatal genetic counseling, but I agree with Allie that I’m not sure that women would be better off without us. I think disability is something that should be talked about and if, after being educated about disability, someone chooses not to have a disabled child, that is sitll their choice. Even as a disabled person, I don’t mind saying this. Of course I feel my life is fulfilling and rewarding but not everyone will understand this. I look forward to reading more posts from all of you.
I had always though that age 35 for offering amnio because when they first started doing amnio the chance of detecting Down syndrome was about equal to the chance the amnio could cause a miscarriage. Anybody know of any references for this question?
Robert published an article on this topic a while back (it was included as a hyperlink above). You can find it here .
I love the blog and thought this post brought up a lot of interesting points. I wanted to mention that my genetic counseling training changed my perception of what I would do if I was in a situation where I had to make a choice as to whether or not to continue a pregnancy with a disability. Before grad school I probably would have said that I would terminate a pregnancy if I found out the baby had Down syndrome. Now, after all my experiences through grad school and in my following GC positions, I don’t think I would. So while people may associate us (indirectly) with termination my experience as a GC has changed my personal opinion of terminating a pregnancy.
I agree with a lot of the points made by Robert and the others on this blog. I usually point out to people (not my patients, of course. but other people I discuss this issue with) that prenatal diagnosis picks up lethal disorders, as well. Having never personally experienced this horror, I do find that patients seem to be able to accept what little time they have with their children better when they know ahead of time. Perhaps other counselors have seen other responses?
I agree Wendy that often patients that discover a diagnosis early on have more time to grieve and therefore are better able to enjoy their time with their child whether it be a lethal disorder or not. I am a new counselor and therefore have not had much personal experience with this, but it is the general feeling I get from the reading I’ve done and the experiences that have been related to me from others. It is definitely one of the benefits of prenatal diagnosis and one of the reasons it should be continued to be offered.
What I find interesting is the patients who terminate pregnancies diagnosed with some condition because they ‘cannot handle it’, and yet what would they do if they had a healthy baby who had an accident and was disabled? Just like anything else in the world, there are worse things that can happen. Prenatal diagnosis allows for a unique situation in that a person can choose what level (or presumed level) of disability that they are willing to accept. How different is this from eugenics? I continue to do prenatal counseling as I have done for 21 years, try to be as unbiased and supportive as I can, and accept each patient and their decision without judgement, however these decisions made in such a short period of time with limited information (sometimes by patient choice) are fraught with the potential for misgivings. As DJ said, events in our lives can change what we might do in a given situation and we are not unique.
I think that the one thing that genetic counselors provide is someone willing to tell them bad news, explain it in terms they can understand, give them enough data – in an unbiased fashion – that they can come to a decision, and support that decision….whether they would do the same or not. This is not the case with some of the OB’s.
I was troubled when I first read this posting last week and am even more uncomfortable after Dr Tiller’s murder.
I am an old genetic counselor who remembers when amnio results took 4 weeks to come back and when US was so bad that we routinely found multiple anomalies in the 3rd trimester.Because of this I was always proud of the genetic counselors who spoke so clearly about the importance for all women to have access to the full range of reproductive options.
I have told women that they were too far along to terminate and that they have no other options. I had patients get bank loans and sell possessions so they could go to Kansas to see Dr Tiller. Because of this I was always proud of the genetic counselors who spoke so clearly about the importance for all women to have access to the full range of reproductive options.
I worked in a setting that not only provided primary care but also had a hospital -based abortion clinic. I regularly heard from perinatologists who provided prenatal diagnosis but not terminations and who thought we shold take these patients and extend the gestational age we served. Because of this I was always proud of the genetic counselors who spoke so clearly about the importance for all women to have access to the full range of reproductive options.
I am the adoptive parent of a child with a dominant genetic disorder.Because of this I am always proud to be a genetic counselor who speaks clearly about the importance for all women to have access to the full range of reproductive options.
I think this weekends events should encourage all genetic counselors to speak out on behalf of their patients for a full range of reproductive options.
The generally accepted guidelines for eligibility of pregnant women for prenatal diagnosis by amniocentesis or CVS are based on evidence that the risk that the fetus is abnormal is at least as great as the risk of miscarriage from the procedure itself.
Bob did an excellent job raising the “dark side” of prenatal testing. It surprised me not to see more comments in response.
Not only must we contend with how prenatal diagnosis and counseling is perceived by the general population, but we also must struggle with the tension that the implicit intent of testing is to give patients the option to terminate the pregnancy. It does not matter how successfully we believe we are balanced and unbiased, if we did not believe that women should have choices, we would not advocate for prenatal testing. An excellent discussion of related issues appears in Troy Duster’s book Backdoor Eugenics and in Tom Murray’s book The Worth of a Child.
It can be frightening to face the notion that we are facilitating termination of affected pregnancies. But by being part of the system, this is indeed a role we are playing whether directly intended or not.
These ideas were very threatening to me early in my career as I was convinced that counselors do not directly influence patients and that counselors do not intend for anyone to terminate their affected pregnancies but I have come to view the situation differently over the years. I have seen how patients can easily misunderstand that a prenatal counselor thinks that they should terminate a pregnancy. I have heard counselors inadvertently slant the content of sessions toward more negative information. Studies show that we give far more medical details than we give information on quality of life. Studies show that prenatal counselors across the country often have had limited experience in the lives of individuals living with Down syndrome and other conditions, yet they are the ones responsible for describing them. Studies also show that GCs personally would most often terminate their own pregnancies in the event that a fetus was found to be affected with a variety of different conditions.
So, are we leading patients to terminate their pregnancies? In most cases likely not, patients are probably doing mostly what they think (value, believe) is the best thing for them. I think we have limited power over others in making life-altering decisions.
Are we imposing our own values and beliefs on our patients? Almost certainly, we are human.
Do we believe that women should have choices about whether to bring into the world an affected child? Most of us do.
Are we then part of a system that promotes the loss of those who would otherwise enter this world with a variety of conditions ranging from the mild (turner syndrome) to the severe (lethal)? Yes.
The more we are able to maturely discuss this tension and its complexities, the better off the profession. We need to be honest about our intent, honest about our actions and our limitations and honest about our humanness.
I’m actually writing as essay about this topic in my English class, and my position in my paper is that prenatal testing should be done and it is not always a bad thing. Just because it is associated indirectly with abortion, does not mean anything. it has helped families prepare financially and emotionally to bring a child into the world with a disability, and i think that is very important. However, I am having trouble thinking of several counter arguments i can address strongly in my paper, may someone please give me some advice?