Tag Archives: Down Syndrome

Are We Ready For This?

Recent advances in genetic testing technology have us poised on the brink of a new paradigm of prenatal diagnosis – prenatal screening for all genetic and chromosomal conditions. Okay, not all disorders, but lots. Non-invasive Prenatal Testing (NIPT), whole exome sequencing, and expanded carrier screening are close to being available and affordable to a large proportion of the population. This is the culmination of a trend that began with the introduction of amniocentesis in the late 1960s, followed by ultrasonography, maternal serum screening, microarrays, and cell free placental DNA in maternal serum. From a strictly technical standpoint, each technology, while far from perfect, was an improvement on its predecessors in terms of accuracy, detection, false positive rates, and the range of  detectable genetic conditions.

On the surface, this sounds like progress, and it is, in many ways. These technologies can contribute to the reduction of the incidence genetic conditions, some of which are pretty serious, a long-standing goal of medical genetics since its inception, as Nathaniel Comfort has pointed out. But technological advances often outstrip the ethical and social means with which to appropriately assess, modify, and utilize them in fair, just, and meaningful ways. So I ask these questions of the sage and thoughtful readers of The DNA Exchange: Just because we can perform prenatal screening for nearly everything genetic, should we? Who should be making this decision?

There are many competing and intertwined narratives about the history of prenatal diagnosis. Let me offer one such narrative to provide ethical and historical angles. During the 1970s and early 1980s, amniocentesis was primarily offered to women of “advanced maternal age” because of the well-documented increase in the incidence of trisomy with maternal age. At the time, in the US women 35 and older represented about 5% of the pregnant population, and this group accounted for about 20% of pregnancies with Down syndrome (this statistic has since changed considerably). While such a policy could be viewed as discriminatory and prejudicial against people with disabilities, the goal of the policy did not seem to be the elimination of genetic disability. Rather, the effect and likely the intent of the policy was to level the reproductive playing field for “older” mothers. During the 1970s, women made great strides in expanding their social and economic opportunities and in taking some measure of control over their reproductive lives with birth control and the availability of safe, legal abortion. Women could now readily attend most colleges and graduate schools, had more career opportunities, and did not feel as much social pressure to retire to motherhood after high school. However, one of the perceived obstacles for delayed childbearing was the greater risk of Down syndrome and other trisomies. Amniocentesis removed this perceived obstacle and consequently women felt freer to delay childbearing until such time as they felt that they and their partners were ready.

Over the decades, mission creep worked its way into prenatal screening. With the gradual incorporation of ultrasound and maternal serum screening into most pregnancies, regardless of maternal age, the detection rate for Down syndrome increased, and critics of prenatal diagnosis raised the specter of the theoretical elimination of all people with Down syndrome. While such an outcome never seemed likely for a variety of social, cultural, individual, and economic reasons, that could be viewed as the intent of prenatal screening. But still, aneuploidy represents only a small portion of all genetic and congenital disorders.

But it is a qualitatively different ethical story with universal NIPT and the expanding number of conditions it can screen for, the prospect of carrier screening for hundreds of genetic conditions for all couples, and talk of whole exome screening of fetuses. That is making quite a profound statement to and about people with a wide range of physical and developmental abilities.

We tacitly assume that the majority of pregnant women want such screening at the same time that we offer it to them. Many patients will  assume that because we are offering it, it must be a good thing. Because genetic counselors’ jobs can depend on the offer and uptake of such services, it affects our views and actions in ways that we often cannot fully appreciate or grasp. To some extent, we offer new testing because labs are offering it and because genetic counselors tend to be early adopters of new genetic tests. As much as we like to think that we are objective assessors of genetic technology who always put the best interests of patients first, the complicated human psyche makes for a messier reality. Our perspectives are distorted by being in the center of the storm. Go ahead and disagree with me if you want, but you are by and large wrong. That’s not me trying to sound superior; motivated blindness is a basic foundational principal of human psychology.

Psychological complexity aside, think of this. The medical profession is already doing a less than stellar job of presenting a realistic and unbiased picture of Down syndrome to parents. Remember, too, that more and more prenatal genetic testing happens without the involvement of a board certified genetic counselor and that parents are often not educated about these conditions until after they have received an abnormal test result. Not exactly the best time to seek out and weigh complicated information. Add a few hundred more conditions less common and familiar than Down syndrome, and you can see the makings of a goddamn mess.

So can there ever be an ethical justification for universal prenatal screening of (theoretically) all genetic and chromosomal diseases? Let me offer some suggestions that could serve as a starting point to address this question. One can argue that this framework or one like it should have been in place decades ago. I agree, it should have. I recognize that for people who are opposed to termination of pregnancy under any condition or for some of the staunchest disability advocates, prenatal screening will never be acceptable unless it somehow improves the lives of people with different abilities and their families. But I ask all sides to at least hear me out.

First, many parties should be involved in the discussion about wide scale prenatal testing, à la Cyprus and thalassemia screening. Prospective users, clinicians, labs, ethicists, religious leaders, legal experts, legislators, and most especially the community of people who are affected directly by the conditions in question (let me add “and others” since no doubt I am forgetting some important stakeholders). You will never get everyone to agree on all of the details, but there should be at least broad consensus about the most critical issues among the majority.

Second, more resources need to be devoted to improving the lives of people with genetic conditions and their families. Every newborn should  be able to live full, rewarding, loving, and enjoyable lives as much as humanly possible. This involves large-scale medical, technological, and social innovations and changes. Improving the social attitudes toward disability is a long, slow, frustrating journey but that should not deter us.

Third, related to the above, prenatal genetic testing should also offer some benefit people with the conditions in questions and their families, other than letting them have the same option as everyone else to terminate pregnancies. Right now, people with disabilities and their families get essentially zero benefit from prenatal screening. Or more accurately, very little research has been done to show any benefits.

Fourth, any new technology or test needs to be vetted by those who do not have a vested professional, financial, or personal interest in the technology or test. Intellectual, research, and financial conflicts of interest have ways of distorting our views in subtle ways that we are incapable of appreciating. This is extraordinarily difficult for us to understand and acknowledge (vide supra motivated blindness).

Fifth, better resources need to be developed for parents to become educated about the medical implications of genetic diagnoses, the range of developmental outcomes, the resources available to manage the condition, and the impact on families, particularly in lower socio-economic populations.

Sixth, this information needs to be provided to parents before they decide to enter the cascade of prenatal screening, not after they receive an abnormal test result. Parents have to carefully decide which if any condition(s) is important to their reproductive and family planning.

If all of these recommendations are in place, this will allow parents to make informed choices about whether or not they wish to go down the prenatal screening pathway and for which conditions. For parents who would never consider a termination under any conditions, they should have the option of screening only for those conditions for which prenatal knowledge can help the child and family, with better medical, psychological, or adaptational outcomes. For parents who have carefully weighed these issues and feel that there are certain conditions that they will choose to avoid if they can, then they should be supported in their decisions with safe, legal, and non-judgmental abortion services. For parents who are not interested in prenatal screening, they should be supported in their decision rather than being made to feel like they are sub-standard parents.

We can ignore my plea, just sit back and see what happens. But this would be a big mistake. Although genetic counselors obviously cannot address this issue by themselves, we are in the ideal position to take the lead in organizing, coordinating, and spearheading the discussion. We owe it to ourselves and to our patients.



Filed under Robert Resta

1193 to 4

Prenatal diagnosis of Down syndrome has long presented an ethical dilemma for the genetic counseling profession. As genetic counselors are fond of saying , we strongly support women’s reproductive decisions, including both continuing and terminating pregnancies wherein a fetus has been diagnosed with Down syndrome or other condition. But also in the oath that genetic counselors swear to,* we claim to be strong supporters of the rights and dignity of people with disabilities. The disconnect between these ethical imperatives leaves genetic counselors open to justifiable criticism from people with disabilities, their families, and their advocates. How can we simultaneously support people with disabilities while at the same time participate in a screening program whose primary purpose is to sort out fetuses who have certain disabilities?

The typical response to this criticism is that patients have choices about whether or not to undergo prenatal screening for Down syndrome, and genetic counselors try to be value neutral in supporting patient choices (for the moment leaving aside the economic and social realities that limit women’s choices and that genetic counselors have no control over). One of the purported benefits of prenatal screening for Down syndrome is that it allows couples to prepare for the birth of a child who may have special needs. And as many of my patients’ obstetricians used to say to them, we can be better prepared medically for the baby’s birth. Seem like reasonable points, no?

Well, they do seem like reasonable counterpoints. But this got me thinking – just how much research has been done on the extent to which prenatal diagnosis enhances familial adaptation to a diagnosis of Down syndrome, and how much does it improve the medical and developmental picture for the newborn with Down syndrome? In short, I wanted to know how much benefit people with Down syndrome and their families gain from prenatal diagnosis.

To help answer this question, I performed a PubMed search using these broad terms: Down syndrome, prenatal diagnosis, prenatal screening. I set the parameters to English language articles with abstracts for the ten years prior to September 18, 2015. This produced 1373 articles, 176 of which I eliminated because they were not primarily about prenatal screening for Down syndrome, leaving 1197 articles. I then read the abstract of each article for evidence that the research addressed the benefit of prenatal screening to postnatal adaptation of families or improved medical outcomes for liveborn children with Down syndrome.

1193 articles addressed sensitivity, specificity, assessing test performance, comparison of screening techniques, patient anxiety, ethical critiques both pro and con, program implementation, patient education, economic/cost benefit analysis, circulating placental DNA, maternal serum biochemical analytes, ultrasound markers, psychological responses, termination rates, decision making, etc..

The number of articles that addressed my primary question? Four.

And even this number is a bit of a stretch. Two of the four articles were speculative pieces about how prenatal diagnosis may one day allow options for treatment. These two articles shared a primary author and one article was basically a slight update of the earlier article.

The other two articles reported on the experiences of women who received a prenatal versus a postnatal diagnosis of Down syndrome. One article reported that women had a difficult time with how the diagnosis was delivered whether it was prenatal or postnatal. The other article reported that a majority of women who received a prenatal diagnosis of Down syndrome and continued the pregnancy felt that they would undergo prenatal screening in future pregnancies for emotional preparation.

I recognize the shortcomings of my quick analysis. No doubt I missed a few articles. PubMed search results vary significantly with the search terms and parameters, and I swear sometimes with the phase of the moon (speaking of which, the upcoming eclipse of the Blood Moon/Harvest Moon September 27-28 should be spectacular, though it may affect PubMed searches that are conducted during the event). Abstracts may not accurately convey the research findings. And of course the search does not include articles published in languages other than English or that were published before September, 2005. So if you know of articles that I missed, please point them out in the Comments section below. Heck, do a PubMed search yourself and see what you come up with. Prove me wrong, please.

If we are going to honestly present prenatal screening as a choice, the choices have to be more than Abort or Carry To Term, unless of course we want to make the uncomfortable acknowledgement that the primary purpose of prenatal screening is to avoid the birth of children with Down syndrome. Pregnancy termination is important for many couples and we should support patients in their reproductive decisions whatever their motivations, but we also need to show a wider range of benefits from prenatal screening.

Ten years and not even a handful of published research about the benefits of prenatal screening for people who have the very condition that is being screened for. Come on, we can do better than this. Our patients deserve better. Shame on us.


* – Okay, I admit that I made up the oath part, but it is so ingrained into our core ethos when we are trained that it may as well be the genetic counseling equivalent of the Hippocratic oath.


Filed under Robert Resta

Understanding What’s Difficult about ‘Understanding a Down Syndrome Diagnosis’

Recently, members of the NSGC received a booklet called Understanding a Down Syndrome Diagnosis, full of lovely pictures of children with Down syndrome and their families, accompanied by a factual but largely positive text (…“According to some studies, siblings of children with Down syndrome tend to be more compassionate and well-adjusted than their peers.”).  Though clearly intended to be both inoffensive and non-polemical, the guide provoked a debate on the NSGC list serve that was vintage genetic counselor, by which I mean that it was sincere, well-intentioned, polite and juiced by the belief that in doing the right thing in the right way, counselors could protect their patients from unnecessary emotional distress.

 The basic argument was this: was this booklet a useful tool for couples who had not yet decided what to do after a prenatal diagnosis of Down syndrome, or did it paint such a rosy picture that it might make those who went on to choose termination feel judged?  Assuming we are all striving to be neutral, what is neutral?  Does it mean actively reaching out to present alternatives in a positive light and to counterbalance negative stereotypes, or is it more a matter of trying to intuit where the family is emotionally, and supporting that decision?  Is non-directiveness literally NON-directiveness, or is it perhaps closer to ALL-directiveness; is there a responsibility to establish that all possible options are legitimate and acceptable?

 Of course, as has been mentioned before, our baseline for “neutral” must take into account that we start this discussion in a hole: the fact that termination is on the table in the first place is, like it or not, something of a statement of where we stand on Down syndrome.  I think this is a reality that a lot of people in the field don’t see or don’t acknowledge, and which is self-evident to patients.  We are so wounded, as a group, by any suggestion that genetic counselors (of all people!) could harbor ill intentions toward individuals with Down syndrome.  We are improbably surprised when people make this connection.  I know a lot of you work with these families and adore these children and all that, but, you know, face facts, WE DO.  I mean, we (individually) DON’T, but we (collectively) DO.  Geneticists run studies to improve on the prenatal detection of Down syndrome.  Why do we do that?  To improve prenatal care?  Please.

 A friend of mine whose first four children were boys was talking to me once about the post-amnio results conversation she had with her genetic counselor for pregnancy number five.  She was offered the chance to find out the baby’s gender (she declined).  Everybody, including her neighbors, and her family, and the guy who worked at the ice cream truck, and certainly her genetic counselor, all knew that this woman was hoping and praying for a girl.  But had her counselor told her that the fetus was a boy, she would not have followed up that unwelcome piece of information with anxious questions about whether or not my friend would like to come in and discuss her options.  We test for Down syndrome in order to give the option of termination.  That is an essential truth.  Everything else is window-dressing.

 In fact, the discussion over this booklet raises a very fundamental question about whether or not our ideal of giving out information in a fashion that is both supportive and neutral is attainable.  Let’s be brutally realistic.  Parents of children with Down syndrome know that being given the choice to terminate is a commentary on how other people view their children with Down syndrome.   They know this because it is true.  And any image or anecdote or statistic showing how individuals with Down syndrome are beloved by their family members is bound to feel like a reproach to couples who decide to terminate.  You can certainly say these things with more sensitivity or less sensitivity, but they mean what they mean.  No amount of searching for the best language is going to change that.

 Well, for my own peace of mind I probably prefer to say some nice things about the joys of raising a child with Down syndrome, and give out this pretty booklet – after all, I am really – just like the rest of you – not against children of any sort, however abled.  But at the risk of ruffling even more genetic counselor feathers, I would like to wonder out loud whether this is mainly a benefit for me, as opposed to the family in question.  I think it comes down to this: how likely is it that a family’s decision will depend on their perception of what the genetic counselor thinks is a good idea?  Do we really have that much influence?  I kind of doubt it.  We may be able to affect how the couple feels about that decision to some small degree — to make them feel better (or worse).  We can certainly influence whether or not they look back on their experience with genetic counseling and think kindly of us.  But a couple has to be truly on the fence if the intervention of a third party who is a transient if well-informed presence in their lives is the actual deciding factor in how they feel about raising a child with disabilities. 

 So if we are only impacting how they feel about the decision and not the decision itself, is it necessary or even advisable to introduce information we think is important, and should we stick to giving them only whatever information they specifically request?  And if we want to demonstrate our bona fides about supporting families who choose to raise children with Down syndrome, perhaps we should think about creative and public ways to do just that, and not rely on the old idea that our personal neutrality in the confines of the counseling session is going to achieve the dual goal of enabling a family’s right to choose, and demonstrating our  respect and humanity for persons with genetic disabilities.


Filed under Laura Hercher

Our Uneasy Relationship with Prenatal Diagnosis

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.”do not enter

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.highway stop

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.”


Filed under Robert Resta