Tag Archives: Down Syndrome

by | November 27, 2017 · 10:44 PM

Imperfect Pregnancies: What Ilana Löwy Has To Tell Us About The History of Prenatal Testing

“It seems to me that all the gentlemen agree, some more explicitly than others, that to abort is a good thing and should be encouraged.”
– from a discussion reported in Early Diagnosis of Human Genetic Defects: Scientific and Ethical Considerations, Maureen Harris (ed). National Institutes of Health, 1970.

I sometimes feel like a lone voice howling in the wind-swept darkness when I argue that any opinion, policy, or analysis of prenatal testing must be rooted in historical context. Often these endeavors are informed by technical aspects of a test, such as sensitivity, specificity, cost, and positive predictive value, sometimes accompanied by vague mumblings about “ethical considerations” and “women’s choices.” But these discussions are inadequate unless they also take into account the historical, social, cultural, and economic factors behind the development, expansion, acceptance, and critiques of genetic testing technologies.

To develop a full understanding of prenatal testing, we need to ask difficult questions with thorny, complicated and uncomfortable answers. What was the impetus for the introduction of prenatal diagnosis in the 1960s and 1970s? Why were researchers studying birth defects, cell culturing techniques, and karyotypes at that particular time? How have changing attitudes toward disability, abortion, and reproductive rights shaped, and been shaped by, prenatal diagnosis? What path does a test follow from being offered to a very small and select percentage of the pregnant population to becoming a routine part of every pregnancy? Why are there regional and historical differences in the acceptance, application, and history of prenatal testing? Why is it nearly impossible to have a discussion about prenatal screening that is not also a discussion about abortion?

Well, I don’t feel so lonely anymore after having read Ilana Löwy’s new book, Imperfect Pregnancies: A History of Birth Defects & Prenatal Diagnosis (Johns Hopkins University Press, 2017). The title pretty much tells you what the book is about, but it is more than just a recitation of discoveries and events. The author, an emerita research fellow at the French National Institute of Health and Medical Research, argues that prenatal testing can best be understood in the context of Michel Foucault’s concept of a dispositif – loosely speaking, the institutions, social factors, laws, regulations, scientific and professional practices that create, maintain, and reinforce a body of knowledge and give it power (no doubt some Foucault scholar will take issue with my description, but you get the general idea). But Löwy’s book is not a high falutin’ study of abstract theories of knowledge. It is concretely embedded in a richly detailed analysis – some of it original and some of it summarizing the work of others – of how we have arrived at the point where prenatal testing, particularly ultrasonography and now NIPT, has become integrated into the routine care of nearly all pregnant women in many Westernized countries.

Let me acknowledge some intellectual conflicts of interest up front: the author cites some postings to The DNA Exchange by me and others, references some of my publications, and thanks me – among many others – in her introductory section. No doubt these small ego strokes influenced my perceptions of the book in ways that I can’t fully recognize.

Imperfect Pregnancies opens with the somewhat artibitrary but reasonable starting point in the late 19th century and the work of obstetricians John Ballantyne and Adolphe Pinard, in Scotland and France respectively, on the nature and causes of birth defects and the medical supervision of pregnancy that they felt was necessary to ensure the delivery of a healthy baby. From there she ties in the history of cytogenetics and karyotyping, congenital malformations and dysmorphology, the emergence of amniocentesis and prenatal ultrasonography in the 1960s and 1970s, the introduction of serum and sonographic screening for Down syndrome in the 1980s and 1990s, and right up to the  latest testing technologies of the early 21st century such as comparative genomic arrays and noninvasive prenatal testing (NIPT).

This is not a scolding work that draws a straight historical line from eugenics to prenatal diagnosis. While eugenic criticisms are certainly valid concerns about the potential ramifications of prenatal testing and that is true that the development of prenatal diagnosis was a clear reflection of negative attitudes toward disability, the Eugenics Movement per se was not a driving historical engine behind prenatal testing. Still, Löwy makes it clear that prenatal diagnosis was established in the context of a public health model to permit and passively encourage abortion (as the introductory quote at the start of my posting suggests) of aneuploid or otherwise “defective” fetuses under the justification of allowing parents to have as healthy a baby as possible, and that was maintained by the social, ethical, medical, legal, and economic factors that made this possible (i.e., the dispositif). Pregnant women were enticed by tests that offered reassurance but some were left with the messy situation of what to do when the testing did not come back with normal results and had to make extraordinarily difficult decisions about how to proceed in largely uncharted territory, a situation genetic counselors know all too well. In the words of one researcher, women were forced “to become skilled managers of fetal risk.”

The author brings an international perspective to her narrative, including experiences with prenatal testing in the US, the UK, France, Israel, Brazil, and Scandinavia, among others. Prenatal testing is managed differently in each country according to unique local circumstances and this has an impact on uptake of testing and abortion. For example, in the Netherlands, where a detailed discussion of screening is routinely incorporated into pregnancies largely by midwives in a non-medical setting, the uptake of testing is much lower than in countries where there is less discussion and is physician driven. In Brazil, where abortion for fetal indications is limited to anencephaly, the uptake of NIPT is much greater among upper socio-economic status who have access to safe (if technically illegal) abortion compared to poorer women who do not have such ready access. Laboratory marketing has taken advantage of the social status associated with having the latest medical tests among Brazilian women, especially during pregnancy, to further integrate NIPT into routine care. In places around the world where women are likely to leave the work force and devote themselves full-time to child rearing, the uptake of prenatal testing and abortion is lower than in areas where women continue to work after childbirth.

The limitations of the early technologies are somewhat shocking from the biased perspective of today. When John Edwards analyzed the unbanded karyotype of  the first patient with his eponymous syndrome, he thought the underlying cytogenetic abnormality was trisomy 17 rather than trisomy 18 until Klaus Patau (who first described trisomy 13) set him straight. In Riis and Fuchs first reports of prenatal diagnosis of fetal sex among hemophilia carriers in Denmark in 1960, one woman proved to have a female fetus that she miscarried after amniocentesis, went on to have another female fetus that also miscarried after amniocentesis, a third pregnancy that was a male and was aborted, and finally had a fourth pregnancy in which the patient successfully carried the pregnancy to term after a female fetus was correctly identified by amniocentesis (I can envision many prenatal genetic counselors simultaneously nodding and shaking their heads right now). Of the first 20 attempts at identification of fetal sex among hemophilia carriers in Riis and Fuchs series, 17 were successful, two resulted in failure to establish fetal sex, and one female fetus was mistakenly identified as male and the pregnancy was terminated (I can hear many prenatal genetic counselors now saying “Ouch!”).

There are a few areas I think the author leaves largely under-explored. Although she gives thoughtful discussion to genetic counselors, I think she understates their importance in ushering in, shaping, and managing each new prenatal testing technology. We have been the boots on the ground as each test was introduced into clinical practice, more or less left alone with patients to negotiate the complicated medical, ethical, and psychological ramifications of “simple blood tests” and “routine sonograms” gone awry.

In the early sections of the book Löwy details the role that obstetricians played in the historical pathways leading up to prenatal testing. However, there was little mention of the obstetricians who worked closely with clinical geneticists and sometimes became board certified in genetics themselves in the 1970s and 1980s – Mickey Golbus, Larry Karp, Mike Mennuti, and Joe Leigh Simpson, to name a few.

I would also like to have seen fuller discussion of the Professional Liability Alert issued by the American College of Obstetricians and Gynecologists in May of 1985, which stated: It is now imperative that you investigate the availability of these tests in your area and familiarize yourself with the procedure, location, and mechanism of the follow-up tests to screen for neural tube defects. Although to the best of my knowledge no one has ever studied the impact of this Alert on the uptake of maternal serum screening in the US, I know that the immediate  impact in my neck of the woods was profound and long-lasting. Most of the obstetrical care providers in the Seattle area suddenly started strongly recommending AFP screening to their patients and it set the tone for the ready acceptance of most other prenatal screening tests that followed over the next 30 years. Although the book briefly mentions obstetricians’ concerns about legal liability, she does not go further down this street and I believe incorrectly attributes it to the AMA’s “concerns.”

But these latter points do not detract from the overall achievements and arguments of Imperfect Pregnancies. If you are a supporter or a critic of prenatal testing, or, like many people, decidedly ambiguous, there is much that you will learn and much that will make you pause and re-examine your own views and knowledge base.

NEWS FROM AROUND THE DNA EXCHANGE – Support The Genetics Literary Community

I am delighted and excited to announce that The DNA Ex’s own Laura Hercher is now also contributing an online column for Genome magazine called GenomeCulture. Read her first installment When Genetics Race Problems Rears Its Ugly Head.

Tony Holzman, now retired from Johns Hopkins and who contributed so much valuable research on the social, ethical, and psychological aspects of genetics, is now a novelist. He has published several novels including Blame, about murder and intrigue in genetics research at the NIH. Tony is now working on publishing his newest novel, The Bethune Murals. The novel is based on the true life story of a physician who was diagnosed with TB and was confined to the Trudeau Sanitarium in the 1920s and who produced a remarkable set of murals on paper used to wrap laundry at the institution. Tony is looking to self published his book through Amazon but needs to get enough votes in an Amazon competition. If you have an Amazon account, you can vote for Tony here.

 

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by | August 20, 2017 · 2:45 PM

Is Down Syndrome Disappearing? Well, Not Exactly But….

Iceland has given the world the Eddas, Sigur Rós, Björk, and some magnificent geology.  A more ambiguous achievement, though, is suggested by a recent CBS News story that claimed that Down syndrome is disappearing from Iceland as a result of prenatal testing. The claim has been bouncing around the Internet for a few years. The earliest reference I could find was a November, 2015 letter sent to the Office of The United Nations High Commissioner for Human Rights authored by Downpride, an international advocacy group for people with Down syndrome. The letter is an “[a]ppeal to the United Nations to stop discriminatory use of prenatal genetic screening aimed at eradication of people with Down syndrome and other groups.” It was, in my view, an understandable and justifiable reaction to largely non-critical widespread adoption of Noninvasive Prenatal Testing (NIPT) from a community that has good reason to be concerned. Needless to say, it generated a lot of heated reaction. Just Google “Iceland Down syndrome” and you will see what I mean.

Delving into the story was like getting lost in a hall of mirrors; many sites simply referenced each other. But the claim that Down syndrome is disappearing from Iceland and that 100% of pregnancies with Down syndrome in Iceland are terminated turns out to be not quite so straight-forward. While Iceland represents a microcosm of the larger concerns of people with disabilities, their families, and their supporters, it is not necessarily an accurate reflection of the macrocosm of the larger population dynamics of Down syndrome in other countries, particularly the United States.

The ultimate source of the data, according to the Downpride letter, was testimony presented to The Althing, the Icelandic parliament that is the world’s longest existing legislative body. I tried unsuccessfully to find that testimony. I then searched PubMed but found only limited help. So I decided to do my own back-of-the-napkin calculations. I obtained the birth distribution by maternal age in Iceland for 2016, and grouped the ages by quinquennia. The expected frequency of Down syndrome was based on data from 1976, prior to the advent of widespread prenatal diagnosis.

Age Group # of Births Exp. Frequency of Down S. Exp. # of births with Down S.
15-19 72 1/1667 0
20-24 592 1/1587 0.37
25-29 1305 1/1087 1.2
30-34 1218 1/763 1.6
35-39 672 1/248 2.7
40-44 165 1/79 2
45+ 10 1/24 0.4
Total 4034  1/488 8.27

 

Thus, in Iceland in 2016, there were 4034 births. In the absence of prenatal diagnosis and selective termination, 8 or 9 babies with Down syndrome would be born, for a frequency of ~1/450-500 births. I then made the following assumptions, acknowledging that each has some potential error:

  • Based on a 2016 publication, about 80% of pregnant Icelandic women will choose to undergo prenatal screening
  • According to Dr. Hulda Hjartardóttir, chief of obstetrics at Iceland’s National University Hospital, among Icelandic woman who have a positive screen, about 25% decline diagnostic testing and continue the pregnancy. Thus, roughly 1/3 of Icelandic pregnant women either do not undergo screening to begin with or decide to continue the pregnancy and not proceed to diagnostic testing if a screening test is positive. The impact of these percentages on Down syndrome frequency depends on the age distribution of those who declined screening or diagnostic testing, but for argument’s sake, I assumed an equal distribution across maternal ages.
  • 100% of women whose pregnancies are diagnosed with Down syndrome will choose to terminate. I could not verify this claim, but I decided to go with the most extreme scenario. This has not been the experience in many countries, where termination rates have been high but not typically 100%.
  • The CBS News story mentions the Combined Screen, so I assumed this was the standard screening test in Iceland when the claims were made in The Althing. I therefore set the detection rate for Down syndrome to 90%, that is, of all women undergoing screening, about 10% of pregnancies with Down syndrome will be screen normal and would not proceed to termination (some studies suggest that the Combined Screen may have a sensitivity somewhat less than 90% but because about 21% of pregnancies in Iceland occur in women 35 and older, a higher sensitivity – and false positive – rate is expected).

Based on these assumptions and the above table, of the potential 8-9 babies born with Down syndrome, about 2-3 would actually be born because their mothers did not undergo either prenatal screening or diagnostic testing, and another baby with Down syndrome would be born because the Combined Screen would be expected to miss about one case. In other words, the total number of newborns with Down syndrome in Iceland would be expected to drop from 8-9 every year to about 3, maybe 4, per year. These numbers could increase or decrease with many factors, such as changes in fertility rates, maternal age distribution, the sensitivity of screening tests, social trends that influence the choice of abortion, and random fluctuations that occur with any demographic trend especially with the small number of births in Iceland (about that many babies were born last year in the hospital where I work in Seattle). If readers know of empirical data from Iceland to support or refute my estimates, please share it.

Of course, for advocates, every loss of a pregnancy with Down syndrome is serious, no matter how small the number. But these estimates put the concerns in some perspective. Among other things, it is fair to say that most, but not 100%, of pregnancies with Down syndrome are terminated in Iceland, and the birth prevalence of Down syndrome in Iceland is falling considerably but not likely, in my view, to disappear entirely.

I think a more realistic picture of the impact of prenatal screening on Down syndrome, in the US at least, is provided by Brian Skotko and his colleagues Frank Buckley, Jennifer Dever, and Gert de Graaf in a recent publication in the American Journal of Medical Genetics. Over the last few years, they have consistently provided some of the most reliable estimates of the demographics of Down syndrome and the effects of prenatal screening.

According to the de Graaf et al. paper, a detailed look at changes over time in the demographics of Down syndrome in 9 states, the number of people living with Down syndrome has steadily increased since 1950. The two major factors driving that growth have been longer survival due to better medical care along with the unrelenting trend of the last 35-40 years of delayed childbearing. This growth, however, has been partially offset by a loss of births with Down syndrome due to prenatal screening. The loss varies with geographic region, but overall, the prevalence of Down syndrome is roughly 70% of what it would be if prenatal screening were not available. Interestingly, the most growth in the Down syndrome population occurred among Hispanics and Native Americans. So, unlike the near elimination of Tay-Sachs disease in many Ashkenazi Jewish communities, the prevalence of Down syndrome is dropping, but not close to disappearing, at least in the US.

Other factors may affect the Down syndrome birth frequency, such as changes in maternal age distribution, availability of abortion, and access to health insurance. For example, in the highly unlikely event that every woman 35 and older refrained from pregnancy, the birth frequency of Down syndrome in the US and many Western European countries would be reduced by more than 50%. On the other hand, if abortion were to become illegal (not highly unlikely), then presumably the birth frequency of Down syndrome would increase. Limiting access to good medical care (unfortunately also not highly unlikely in the US) could lower the overall prevalence of Down syndrome because of reduced survival.

Current trends suggest that, for the immediate future, prenatal screening will continue to reduce the birth prevalence of Down syndrome. It is becoming increasingly easier for women to undergo prenatal screening and more difficult to just say no. This is due to aggressive marketing by commercial labs of “newer, better, bigger, cheaper” screening tests like NIPT; the dearth of time and resources devoted to unbiased education about Down syndrome and the pros and cons of screening tests; inequitable social distribution of medical resources and social support; and the rarity of long, difficult discussions between pregnant women/couples and their providers about whether they should even enter the prenatal screening cascade to begin with. It also does not help matters that the current US President lacks any moral decency and takes pleasure in mocking people with disabilities.

Although I am a strong supporter of women’s reproductive rights and well-informed, gut-wrenching decisions to terminate a pregnancy, it is becoming increasingly difficult to provide ethical justification for further expansion of prenatal screening, or expanded carrier screening for that matter. This is something that society needs to address but particularly genetic counselors because we are in the thick of it.

As I have previously argued, almost no research has been conducted that has tried to demonstrate whether prenatal screening can improve the medical, social, and emotional lives of people with disabilities and their families. Some women undergo prenatal screening because they think it will prepare them for raising a child with Down syndrome, but we really can’t tell them if screening does help or if it is worth their emotional and psychological investment. Carrying out such research is critical. If we can demonstrate broader benefit of prenatal screening, then we can open up a dialogue with the disability community rather than continue the shouting matches, and offer greater and more equitable justification for NIPT and other screening technologies.

Or we can continue shouting at or dismissing one another.

 

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by | February 6, 2017 · 9:48 PM

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.

 

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by | September 21, 2015 · 11:14 AM

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.

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by | March 30, 2011 · 11:52 AM

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.

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by | May 25, 2009 · 8:15 PM

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.”

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