Stand Tall

Note: for a more complete list of my posts, please visit my new site at www.patriciaebauer.com --

Please also see my related post "Tell them it's not so bad" at: http://www.patriciaebauer.com/2007/10/02/tell-them-its-not-so-bad

Text of my keynote speech about routine prenatal screening

delivered at the 35th annual convention

of the National Down Syndrome Congress

Kansas City, Missouri

Sunday, August 5, 2007

Long ago, my husband and I thought we had the world figured out. We had good educations, good jobs, nice offices, even preferential parking spaces. We thought we had it made.

Then, a little more than 23 years ago, Margaret showed up, providing us with the most important learning experience of our lives. Our first order of business was trying to figure out this whole Down syndrome thing, of course, but ultimately it dawned on us that the effect of an extra chromosome here or there was the least of what we needed to learn. Over time, we came to reevaluate our core values, and to understand that much of what we had been led to believe – about what makes a family happy, what makes a life worthwhile — was misguided.

I’m sure I’m not alone in saying that for the first few years of Margaret’s life we worked very, very hard to do everything we could to help Margaret become “normal.” It was only later that we realized what most families get to eventually: that “normal” wasn’t the point. Our real goal was to help Margaret be Margaret. It was only by letting go of the concept of normal that we were able to see our daughter as the delightful person that she truly is, not obscured by some burdensome word, some arbitrary social ideal that had nothing to do with any of us.

Like it or not, though, we have to admit that we as a nation have been sold this concept of “normal,” and we’ve fallen for it. Somehow, while the disability community was out of the room, the world of medicine established a diagnosable standard called “normal” and now we’re all trying as hard as we can to achieve it.

Starting this year, it is recommended by the professional organizations representing obstetricians and gynecologists in the United States and Canada that all pregnant women be offered prenatal screening for Down syndrome. All pregnant women. Prenatal screening tests are now well on their way to being standard of care. Insurance companies are covering them. And since Down syndrome is not a condition that can be repaired in utero, it must be fairly assumed that the purpose of this testing is to allow – and urge — women to terminate their pregnancies, which is in fact what has been happening about 90 percent of the time when Down syndrome is diagnosed prenatally.

Let me just underscore that, to make sure we’re all on the same page. Studies have shown that nine out of ten pregnancies in which there is a prenatal diagnosis of Down syndrome end in termination.

This is a painful topic to talk about, I recognize, and it’s made more painful by the very ironic fact that these recommendations have come at a time when people with disabilities have more legal protections than ever before.

Not only that, people with Down syndrome are in general healthier and having a better quality of life than at any time in history. This is the first generation to benefit from early intervention, inclusion, improved health care and better educational opportunities, and they are blowing up yesterday’s old data. Increasingly, they’re completing high school, getting jobs, living more independently. Some are driving; some are getting married. Imagine: I met a woman with Down syndrome the other day who was part of a relay team that swam the English Channel. These are people who are living full lives and making contributions to their communities.

We laugh at our house every time we see some article in the media about how people are “suffering” from Down syndrome. Margaret, my daughter, has just moved into her own apartment with a couple of her girlfriends. She’s sure not suffering. And just the other day, self-advocate Audrey Wagnon delivered the same message in her speech to the full NDSC convention. Here’s how she said it: “I’m having the best life ever!”

But – oddly — we live in a time in history in which the faces of our loved ones have come to symbolize something in the public mind that is very much at odds with our life experience. People see our family members and think what they’ve been taught to think. They think our children are tragedies. Yet we who are privileged to live with them know that, despite some of the frustrations of day-to-day existence, our lives are also filled with possibility and love and joy.

So why the disconnect between our lives and society’s vision of them? Perhaps we should start by acknowledging the obvious: prejudices, biases and fears of disability run deep in our society, nourished by years of history and reinforced among other things by ignorance, gaps in the healthcare and educational systems and negative media images.

Physicians tell me that women want prenatal screens because they are very fearful of having a child with a disability.

Among other things, they fear that the financial burden would crush them or that they wouldn’t be able to get a decent education for their child. They’re afraid, too, that they would be held accountable for having a child with a disability, and that there would be people who would blame them for failing to prevent the birth of such a child. They are afraid of stigma and ridicule. Sadly, these are not unreasonable fears.

But that’s only one piece of the puzzle we face. Here are few more:

– Puzzle piece number two. Prospective parents are suing their doctors if they don’t get a so-called “perfect baby,” leading to skyrocketing insurance costs and doctors who want to run every test possible to prevent litigation. Not long ago, a Florida jury awarded a couple more than $20 million because their doctor failed to warn them that their son would be born with a genetic syndrome.

– Puzzle piece number three. Physicians, nurses and other health care providers are giving their patients negative, outdated, biased or incomplete information about Down syndrome, depriving them of the ability to make their own informed choices based on accurate information instead of negative stereotypes.

– Puzzle piece number four. Financial demands on doctors mean they have to process more and more patients in less and less time, giving them scant opportunity to discuss tests and deliver diagnoses in a sensitive, thoughtful compassionate way. Women are reporting that these rushed interactions feel coercive.

– Puzzle piece number five. Medical schools don’t offer clinical training about people with intellectual disabilities.

– Which brings us to puzzle piece number six. Let’s not forget that prenatal diagnostics is a profitable industry, in which hundreds of millions of dollars are spent each year. A substantial portion of that cash flow swells the accounts of the obstetricians and gynecologists who see pregnant women. By contrast, I should point out, the amount of money spent on research into treatments and processes to improve the lives of people with Down syndrome is minimal at best.

All these factors, I’m sorry to say, have combined to create an atmosphere in which there is a growing presumption that pregnant women should be tested for Down syndrome – a presumption, stoked by ignorance and stereotypes, that children like ours are expendable, that children like ours are without value, and that children like ours impose an unwanted cost on society. Somehow, without our knowledge or participation, a cost-benefit analysis has been applied to our children and they aren’t measuring up.

You may be wondering: How did we ever get to this point?

For the purposes of this conversation, let’s start back in the ‘50s. Most of you won’t remember it, but people with disabilities then had not been granted the right to go to public school. Doctors didn’t think that people with intellectual disabilities were capable of learning, and routinely recommended that they be sent away to institutions. During the ’50s in this country, an estimated half a million children were institutionalized, often under the most abusive and degrading conditions.

So when a French geneticist named Jerome Lejeune discovered the extra 21st chromosome that causes Down syndrome in the late 50s, his discovery caused many to hope that treatments would soon be found. As you of course know, that didn’t happen. A far more straightforward task, from a scientific point of view, was the development of tests that could be used for prenatal testing and screening. Those tests really took off after abortion was legalized in 1973.

Doctors and scientists took a public role in recasting the definition of healthy fetuses and legitimate abortions, and what were called “therapeutic” abortions came to be regarded as a legitimate and desirable way to prevent or eliminate Down syndrome. It was in some ways just an accident of history that these so-called therapeutic abortions became well entrenched before our society was able to see what individuals with Down syndrome, given a chance, could do.

It is, as author Michael Berube has written, a bitter paradox: even though we have barely begun to explore the ways in which we could include people with disabilities in our society, we are devoting precious time and resources to developing better ways of spotting and eliminating these people before they are born.

Particularly troubling is the fact that this shift – to preventing Down syndrome by attempting to prevent the births of children who have it – was largely engineered by members of the healing professions, the very people who are charged with the responsibility of protecting vulnerable populations.

So now we are left with a harsh reality indeed. The implicit message the American College of Obstetricians & Gynecologists seems to be sending is this: even though racial, cultural and ethnic diversity are valued and supported in our society, genetic diversity is not. It seems that it’s more important to be “normal” than to be “human.” Or maybe we should view this as less a philosophical discussion than a pragmatic one. For OB/GYN’s, it’s better for business to deliver only babies that the medical profession calls “good outcomes.”

Somehow, along the way, the professional organization representing these doctors has failed to notice that they have embarked upon the elimination of an entire class of people who have a history of oppression, discrimination and exclusion.

I know we empathize with today’s young parents. Their finances are limited. They have grown up in an era of fear, taught to be afraid of strangers and wary of the strange. In the obstetrician’s office they trade their fears for the illusion of control — but in the process they are giving away much of what defines America at its best: a society that assumes responsibility for those who are vulnerable, a society that accepts those who are different, a society marked by generosity, liberty and freedom of thought.

These may sound like abstract concepts, but they’re not. The consequences of all these uninformed individual decisions, made in the privacy of the obstetrician’s office, are being played out before our eyes every day. We see them when our family members are the subject of unwanted stares. When people talk about how someone “had” to get rid of a pregnancy because it wasn’t perfect. When people tell us that special ed kids “cost too much.” When people ask us, sometimes in ways that seem unfriendly, whether we had “the test.” Or even why we didn’t have “the test.” When medical professionals look at our beloved children and say “that shouldn’t have happened.”

Let’s face it: people with Down syndrome have a catastrophic PR problem. The doom and gloom talk has gone largely unchallenged for far too long.

It gives me great pain to tell you all this, because I know you love your family members as much as my husband and my son and I love Margaret. I know, too, that you share our vision that people with Down syndrome are valued, contributing and vibrant members of our families and our communities.

We come together at reunions like these to affirm the value of our family members’ lives, secure in the knowledge that their extra chromosome is NOT the most important thing about them. They belong; they dream big dreams; they contribute; they deserve respect. What makes their lives difficult is not their genetic makeup; it’s the uninformed attitudes of others.

We know this, of course, but it’s not enough for us to share the message with one another. We need to put it out where all the world can see.

Let’s start with what we can do as individuals. As I’ve gone around the conference, I’ve heard about some great things that people are doing in their own communities. Things like:

–Helping to educate the doctors and genetic counselors in their area by visiting their classes or professional meetings.

–Building relationships with hospitals, and talking with families who have a fresh diagnosis.

– Monitoring their local news media, and holding them accountable for their coverage and their use of language about people with disabilities.

These are great steps, but let’s not stop there. Let’s dream even bigger.

It’s time for us to insist that our organizations advocate forcefully on behalf of people with Down syndrome in ways that are targeted to reach decision-makers, to reach medical professionals, and of course to reach the general public. Here are some of the things we need to do.

1. We need to provide disability awareness training and accurate information directly to obstetricians, to gynecologists, and to the professionals who assist them. They need to hear the nuanced, compassionate message that is at the core of diversity and human rights: all people have value and dignity and are worthy of celebration. We’ve told them this nicely. Now perhaps it’s time to turn up the volume.

2. We need to put out lots and lots of well-designed materials that will teach doctors how to discuss prenatal screening and diagnoses with their patients. Senators Kennedy and Brownback have recently reintroduced their bill on this topic. Whether it’s this bill or another one, we need to find a way for doctors to get the materials they need.

3. We need to improve medical school curriculums, which include almost nothing about children with disabilities.

4. We need to hold publishers accountable for the editorial content of their pregnancy handbooks. Take a look in your local bookstore, and notice what those books say about our young people. If they carry anything at all, it’s more than likely a cold, clinical list of symptoms and diagnoses, guaranteed to strike fear in the heart of any pregnant woman. We must change this.

5. We need to use technology to convey our message. Where does your average 20-or 30-something look for medical information? Right. The Internet. If we truly want to help people make informed decisions, we need to get involved in the Internet in a big way, both in print and in video. Our content needs to be useful and modern.

6. We need to enable prospective parents to see that people with disabilities live good lives, and that they have warm, sustaining relationships with their families and friends. Presently, that information is only coming to them anecdotally, if at all. Imagine how different things would be if people could be referred to a website that allowed them to click on videos that would show them footage of people with Down syndrome, of all ages and ability levels, going through their daily lives. America’s teenagers are communicating actively through Youtube – why shouldn’t we?

7. We need to speak up to challenge the old stereotypes about our family members and ourselves. We’re not victims. We’re not heroes. We’re just ordinary people sharing slightly extraordinary lives with people we love and who love us.

I talked earlier about people who sometimes ask us about whether we had “the test.” Here’s what I think they really want to know. Did you, or would you, choose this person to be in your family? Let me tell you my answer to that question.

When my husband and I decided to have children, we were kids. (Okay, we were in our early 30s. But viewed from a distance, that sure looks young now!) Sure, we had lots of education, degrees and experiences, but there was a lot we didn’t know:

– We didn’t know what it meant to be a parent.

– We didn’t know that there was no such a thing as normal.

– And we sure didn’t know that that it was possible to have a happy, thriving, loving family with a child who was not the same as everybody else’s.

Fortunately for us, we have learned a thing or two at the University of Margaret since then. We learned

– No child is “normal” — and neither are we;

– We, like all parents, need to get over the notion of our children meeting some arbitrary standards of perfection that we couldn’t possibly achieve ourselves; and

– We choose our children, and each other, over and over, every day of our lives.

In short, my husband and I have been privileged to share our lives with someone who is a constant reminder of some essential truths: the importance of family, the strength of unconditional love, the dignity and value of vulnerable people, and the fact that IQ points are not a good predictor of personal happiness or quality of life.

As we all ponder how to carry these messages to the outside world, as we get ready to leave the safe haven of our reunion today, let’s remember that we are all stronger together than we are separately.

But talking among ourselves, while important, won’t get the message out. We have to communicate directly with those not in this room.

A couple of years ago, a newspaper running a piece I’d written asked for a family photo, including Margaret. I gulped, feeling exposed, and called my husband to ask his thoughts. He said, “Stand tall; run the picture.” We did.

That is my message to all of us: Stand tall; get out the message.

People will listen.

We can do it.

Together.

A new perspective on prenatal screening

Writing in Canada’s professional journal of obstetrics, representatives of the Canadian Down Syndrome Society raise strong questions about the ethical implications of recent recommendations that all pregnant women be offered prenatal screening for Down syndrome.

“Our vision is of a proud Canada where all are welcome, where diversity is embraced, and where everyone’s genes are valued equally.”

CDSS vice-chair Rhonda Grant and executive director Krista Flint define Down syndrome as “a naturally occurring chromosomal arrangement that has always been part of the human condition.”

They maintain that social constructs and belief systems have aligned to cause perceptions that DS is a birth defect or an illness, a perception they say is flawed. They draw parallels between Down syndrome screening and prenatal sex selection, saying both practices are rooted in cultural biases that cause inequitable treatment and reduced quality of life for the targeted group.

Among their recommendations:

• Professional education for physicians and health care providers about the reality of lives lived with Down syndrome.


• A broad-based effort to provide accurate and balanced information to pregnant women, both about DS specifically and also about the realities of life with a disability.


• The use of value-neutral language by doctors in discussing Down syndrome with patients.


• A comprehensive plan to put prospective parents in contact with support groups or other knowledgeable parties.

Grant and Flint note that two members of the organization’s 11-member board have Down syndrome, as do twelve members of a board advisory committee. They describe the advisory board members as “university students, entrepreneurs, artists, employees and spouses who share our concerns about the new recommendations from the Society of Obstetricians and Gynaecologists of Canada (SOGC) and the implications of those recommendations for them and other people with disabilities.”

The letter is published in the July issue of the Journal of Obstetrics and Gynaecology Canada (JOGC), Canada’s peer-reviewed journal of obstetrics, gynecology, and women’s health.

A prenatal screening story with a difference

Click here to see a thoughtful, nuanced piece about prenatal screening by reporter Amelia Santaniello of CBS affiliate WCCO in Minneapolis. It avoids the old stereotypes and buzzwords, talks about what people with Down syndrome can achieve, and encourages expectant parents to learn more about the lives of people with DS and their families.

Democrats shift policy on abortion

Stephanie Simon, writing in the Los Angeles Times, notes that Democrats in Congress and on the campaign trail are adopting some of the language and policy goals of the antiabortion movement.

"In a striking shift, Democrats in the House last week promoted a grab bag of programs designed not only to prevent unwanted pregnancies, but also to encourage women who do conceive to carry to term.

"The new approach embraces some measures long sought by antiabortion activists. It's designed to appeal to the broad centrist bloc of voters who don't want to criminalize every abortion — yet are troubled by a culture that accepts 1.3 million terminations a year."

The story also notes the return of the Kennedy-Brownback bill, which disappeared in committee in the last session of Congress and was reintroduced last week.

"Liberal stalwart Edward M. Kennedy (D-Mass.) is working with staunch conservative Sam Brownback (R-Kan.) to mandate more support services for pregnant women carrying fetuses with genetic abnormalities, such as Down syndrome. Focus on the Family, an influential conservative ministry, praises that bill as 'lifeaffirming.' "

Millions for "wrongful birth"

Amara Estrada, right, hugs the wife of her attorney after the judgment was announced.
Photo from the St. Petersburg Times

A jury has awarded a Florida couple more than $20 million in what is being called a "wrongful birth" case. The parents had alleged that a geneticist was negligent in failing to prenatally diagnose their child's genetic syndrome. They testified that they would have terminated the pregnancy had they known.

" ... because the doctor works for the University of South Florida, the family will have to persuade the Florida Legislature to award most of the money. State law caps negligence claims against government agencies at $200,000.

"Daniel and Amara Estrada claimed in the lawsuit that if their first child's condition - a genetic disorder called Smith-Lemli-Opitz syndrome - had been correctly diagnosed, a test would have indicated whether their second child would also be afflicted ...

"But, they say, Dr. Boris Kousseff, who treated their first son, Aiden, after his 2002 birth determined that the child's birth defects were not specific and did not diagnose Smith-Lemli-Opitz syndrome."

Related links:

-- From the St. Petersburg Times, this story:

"From the moment their son was born, Amara and Daniel Estrada knew he would suffer. Baby Aiden had webbed toes, a cleft palate, low-set ears, a small head and genitals so tiny doctors had a tough time determining his gender..."

-- Link to the Smith-Lemli-Opitz Foundation website.

Amnio report sparks disability debate

A report in the current Journal of Obstetrics and Gynaecology of Canada concludes that American data has understated the risk of miscarriage during amniocentesis. The paper quotes the authors as saying that the American findings are “misleading and should be interpreted with caution.” Story from the (Toronto, Canada) Globe & Mail here. The story sparked an impassioned public comment session, with newspaper readers debating the value of late-in-life pregnancies and the lives of people with disabilities. Link here.

Fetal medicine expert tells all

In an interview in the (UK) Guardian & Observer, fetal medicine pioneer Charles Rodeck tells us how things look from his side of the examining table. It's a sobering view. Rodeck is the founder and head of the unit for fetal medicine at University College Hospital, London, and was among the first physicians to pioneer fetal ultrasound in the seventies.

Among his revelations: doctors are increasingly being called upon by panicked parents to predict the level of disability that may be present in a child, and they are not equipped to do it.

... Unless a fetus is suffering from a particularly well-defined abnormality, it is impossible for a physician to predict how a condition will manifest itself in any child. "Our diagnostic abilities have outstripped our therapeautic skills," Rodeck said. "We now screen more women and can identify a huge variety of abnormalities, but we still can only treat a minuscule fraction...."

"... I have to tell parents all the time that just we don't know or can't predict exactly how their child will be affected by any particular condition," he said. "Often we can't even give a name to the abnormality suffered by a fetus...."

Rodeck also offered stiff criticism to the commercial IVF industry, which he characterized as "very competitive."

"Some clinics try to keep a step ahead by offering more interventions than their competitors, even if they know these procedures are uproven and may not work. This can become exploitation..." He said he is particularly concerned about a growing number of pregnant women he sees who have been prescribed unnecessary, unproven and possibly harmful drugs by private clinics.

The full story can be seen here.

Sex selection redux

Top fertility doctors in Britain want to lift the ban on parents choosing the sex of their babies, saying that couples have the right to pick "a pink one rather than a blue one." From the Daily Express (UK). Link here.

Parallels between sex-selective abortions and selective terminations

Taken together, this story and the accompanying letter to the editor present a parallel to prenatally diagnosed disabilities and termination.

First, the story:

India tries to stop sex-selective abortions. New York Times. Link here.

"Last year, a study by The Lancet, the British medical journal, reported that up to 500,000 female fetuses are aborted each year in India, leading to the birth of nearly 10 million fewer girls over the past two decades. Experts say that sex-selective abortions in India reduced the number of girls per 1,000 boys from 945 in 1991 to 927 in 2001."

Now, the letter. Link here.

"India’s latest proposal to stop sex-selective abortion regrettably overlooks a root cause of the discriminatory practice ... Until the Indian government adopts and enforces laws and policies that promote education for women, eliminate discrimination in the family and the community, and ensure women’s access to safe reproductive health services, it will continue to disempower its women."

To connect the dots: In societies in which people with disabilities are not being provided with adequate education, health care and other needed services, couples look to termination to avoid personal heartache. The net effect is a practice that continues to foster discriminatory attitudes against a historically stigmatized group.

Early screening cuts births of children with Down syndrome by 50 percent in Denmark

Early ultrasound screening, coupled with a blood test, has reduced the number of children born in Denmark with Down syndrome by 50 percent, according to Professor Karen Brondum-Nielsen of the Kennedy Institute in Glostrup, Denmark.

The findings were the result of an analysis of data collected in three counties in Denmark, accounting for about one-fifth of the nation’s population, for the years 2004 to 2006. The analysis followed a recommendation for new guidelines for prenatal diagnosis in 2004 by Denmark’s National Board of Health.

Until September 2004 the Danish government had recommended that only pregnant women over the age of 35 should be offered the combined non-invasive tests, which are carried out between the 11th and 14th weeks of pregnancy.

But Denmark's national health board subsequently recommended that the early tests should be made available to all women who requested them, regardless of age. The combined testing regimen included a nuchal translucency ultrasound along with a maternal blood test.

Brondum-Nielsen reported that women whose initial screen indicated an elevated chance of Down syndrome were then offered an invasive test (amniocentesis or chorionic villi sampling). As a result of the early screening, she said, rates of invasive testing declined during the period studied.

See the reports here and here.

"... The professor concluded that there was a need to analyse the psychological impact of the policy, both in regard to the pre-test counseling available to pregnant women and their attitudes towards screening."

Prenatal screening tied to MD concerns over lawsuits: Economist

In a report from the Economist, ACOG's prenatal testing and screening guidelines are attributed at least in part to physician worries over wrongful birth litigation. See the story here:

Wanted: Perfection. Doctors try not to be sued over Down syndrome babies

Key quote:

The new guidelines may also be triggered by the surge in lawsuits. In November an ACOG survey found that 65% of obstetrician-gynecologists had reduced their practices for fear of liability claims. Clinic workers confirm that women who have imperfect babies tend to blame doctors. One nurse says her clinic can't afford the insurance to ward off the suits. 'If more tests reduce our risks, then so be it.' (emphasis mine)

What's remarkable to me is that more media attention hasn't been paid to the connection between wrongful birth lawsuits, lack of tort reform and the broadening of prenatal testing. Although ACOG has presented the guidelines as a response to requests from women, the Economist makes the point that the guidelines often are not well implemented, and many women are feeling ill-served.

From the story:

Many obstetricians are clearly overworked, with no time to offer more than suggestions and results. And although the guidelines describe these tests as options, many pregnant women are feeling badgered. Some are being asked six times or more whether they want an amniocentesis.

The economic subtext becomes more clear when you read the most recent ACOG report on litigation here. Among the key findings from the 2006 ACOG survey on professional liability:

-- Almost 70% of ob-gyn survey respondents have made changes to their practice as a result of the affordability and/or availability of professional liability insurance, and 65% have made one or more changes to their practice as a result of the risk or fear of professional liability claims or litigation.

-- A total of 89% of respondents indicated they had at least one professional liability claim filed against them during their professional careers, or an average of 2.6 claims per ob-gyn.

-- Top lawsuit allegation made against gynecologists: delay-in or failure-to-diagnose.

In other news:

From USA Today:
A mother's view of a word that wounds: 'Retard'

From the Independent (UK):
Screening IVF embryos 'can damage birth chances'
(See the original report in the NEJM here.)
Childhood asthma gene identified by scientists

From the Guardian (UK):
Benoit son's disability questioned

From WPVI-TV in Philadelphia:
Gifts for every parent

Prenatal screening panic

Dear Pat,

A dear friend's niece is facing a crisis. She is pregnant at 35 with one little daughter, and the prenatal screening tests are showing but not yet conclusively the possibility of Down Syndrome in this pregnancy. She is understandably overwhelmed. She won't have a complete report for another 10 days. Do you know what resources are available for counseling and helping a woman at this point in her life? I am sure there are many and some will presumably come from the OB-GYN, but if you have any suggestions, they would be welcome.

I have always told my daughters that in any critical situation there is time, as strange as that may sound, to still examine things and think them through. This definitely feels like one of those moments. This woman is utterly overwhelmed and I have tried to offer my friend encouragement to help her slow down, gather information, think carefully and proceed with care. The stakes on either side of her choice are very high.

What can we tell her?

Claudia
______

Yes, you're right: there is time to gather information and think it through. Unfortunately there’s a lot of confusion out there, and it seems that we’ve been much more successful in developing tests than in helping people interpret the results.

First, there’s the confusion about the tests themselves. Your friend should be aware that the prenatal screens used in the first trimester produce data in what is called a "probabilistic" format. In other words, they are not definite; they say that you may have one chance in X number of a particular result.

It's important to know that what the woman receives are odds (sort of like Saturday night in Las Vegas), and that the screens are designed in such a way that they deliver many false positives as well as false negatives. I've had email from women who have been told they had a high probability of a child with DS only to have a child without it, and women who were told their child would likely not have DS and then did have it. In all likelihood, her doctor will recommend followup testing of amnio or CVS, which will offer more definitive (although not infallible) information.

Then there’s the confusion about what a diagnosis of Down syndrome could mean. Everyone is unique, and there’s no way to predict what a person will be able to do by looking at their chromosomes. Recent advances in education and healthcare have brought about marked improvements in outcomes for people with DS these days, according to parent reports. (See "Prenatal tests put Down syndrome in hard focus" in the New York Times.) But national outcomes data is not kept, so it's understandable that medical professionals who have minimal contact with people with DS may well be unaware of progress that parents are seeing.

In a recent survey of mothers of children with DS published in the American Journal of Obstetrics and Gynecology, Dr. Brian Skotko found that parents feel obstetricians and genetic counselors fall short when it comes to delivering a prenatal diagnosis of Down syndrome to pregnant women. (You can access the study here.) Mothers who received a prenatal diagnosis of DS reported that doctors did not give them a balanced view of the possibilities and realities of life with Down syndrome, and did not provide up-to-date information.

With that in mind, your friend might want to contact her local Down syndrome organization. In my experience, predictions by doctors and lists of symptoms in medical textbooks can be very limiting. It’s not until you meet other families and get current information that you begin to see the possibilities. The National Down Syndrome Congress and the National Down Syndrome Society, available on the internet here and here, may be able to help you find a local affiliate.

And if that’s not enough to think about, you should also be aware that OB/GYNs are feeling the bite of rising medical liability insurance costs as courts in some states have been awarding damages in what are being called "wrongful birth" lawsuits. With that kind of backdrop, it's understandable that many doctors are insisting that women get prenatal screening (or sign a waiver declining it) as a way of warding off potential lawsuits. Sadly, this only adds to the level of anxiety that surrounds the topic of prenatal screening.

As I'm typing this, my daughter Margaret is busily reading "Julia and Jacques Cooking at Home" by Julia Child and Jacques Pepin, looking for recipes for tonight's dinner. She has completed high school and a post-secondary culinary arts program, and is excited that she will be moving into her own apartment with a couple of girlfriends (with some help from mom and dad) later this summer.

I guess I'd want to tell your friend that in the final analysis, being a parent to any child is both work and a gift. Like many things in life, it mostly requires that we keep smiling and keep showing up. Having a few good friends also makes a world of difference.

P.S. Here's a link to a story from the Sacramento Bee the other day about a "precocious" third-grader who's performing in her local junior production of "The Music Man." Her name is Katina and she's got DS. The photos are adorable.

Race, genetics and ... what else? Prenatal diagnosis

Osagie K. Obasogie, writing on the Bioethics Forum, discusses the possible impact of efforts to decode the genetics of skin color. He wonders whether the money is there to create prenatal diagnostic tools to allow couples to choose the skin colors they want for their children, and ponders the effect of such a development on social constructions of race. Good questions. Given that racial inequality has historically been based largely on skin hues, how would it feel to live in a society in which the haves could choose their offspring's color and the have-nots could not?

Says Obasogie:

"What’s happening with genetic research into skin color is as much an ethical development as a scientific one."

Topics in prenatal diagnosis: Cosmetic enhancement, bullying, homophobia ....

The British Human Fertilisation and Embroyology Authority has granted a license to a London family clinic to screen embryos for a genetic disorder which causes a severe squint. The action is being described as the first time a British clinic will be allowed to screen embryos for cosmetic problems. Critics say the action is inappropriate because the condition is not life-threatening. Story from the BBC here; from the London Telegraph here.

The Telegraph account quotes Prof. Gedis Gurdzinskas, who received the license, as saying that he would screen for any genetic factor, cosmetic or otherwise, that might cause a family severe distress.

When asked if he would screen embryos for factors like hair colour, he said: "If there is a cosmetic aspect to an individual case I would assess it on its merits.

"[Hair colour] can be a cause of bullying which can lead to suicide. With the agreement of the HFEA, I would do it. If a parent suffered from asthma, and it was possible to detect the genetic factor for this, I would do it. It all depends on the family's distress."

As long as there is money to be made screening pregnancies and embryos, there will be no shortage of people willing and eager to perform the service. But as the saying goes, the fact that we can do a thing is not an argument that we should. Increasingly, it seems, we are turning to market forces to eliminate problems that more properly should be addressed by social action. Prenatal screening to avoid bullying by those who don't like our hair color? Please.

If parents perceive themselves as being morally obliged to create "perfect" children who will not arouse social opprobrium, society will inevitably become less tolerant of those who are different, whether that difference resides in disability, a luxurious crop of red hair, or sexual orientation. For more on the topic of selecting for sexual orientation, see Alice D. Dreger on the Bioethics Forum: "Liberty and Solidarity: May We Choose Children for Sexual Orientation?"

She argues that prenatal screening attaches negative attitudes to the conditions that are screened, recounting a case in which a friend was "scolded" by a stranger for having a child with Trisomy 21 (Down Syndrome).

"I can fully imagine a scenario where, thirty years from now, a woman tells a friend her son has come out as gay, only to have the friend respond, “Didn’t you get the test?!” Could we really imagine that offering such a test would have no negative impact on how an already-homophobic culture views people who are gay (and their parents, for that matter)?"

Here's her conclusion about prenatal screening and termination for homosexuality (which she credits to researcher Simon LeVay:

"... we shouldn't ban it. Because that would be allowing governments to make decisions about our reproductive choices, which isn't a good idea. . . . But I reserve the right to become hysterical about it.”

Now that's productive.

More on the so-called "gay gene" from the Toronto Star here.

More unintended consequences of prenatal diagnosis

A friend sends this article from the Sunday Times in London. Here's the text:

"More than 20 babies have been aborted in advanced pregnancy because scans showed that they had club feet, a deformity readily corrected by surgery or physiotherapy."

The article goes on to say that abortions were also carried out for webbed fingers or extra digits, which can be corrected by simple surgery. All the terminations took place after the 20th week of pregnancy, although the specific week of pregnancy for each was not disclosed. The data, from the Office for National Statistics, added to controversy that had been ignited when a British woman had an abortion at 28 weeks for cleft palate, another surgically correctible condition. It's worth noting: babies delivered at 27 weeks have a survival rate of more than 90 percent.

More text from the article:

"Some parents, doctors and charities are increasingly worried by what they see as a tendency to widen the definition of “serious handicap”. The handicap provision, which does not exist in most other countries, permits abortions to be carried out until birth. It was intended to save women from the trauma of giving birth to babies likely to die in infancy."

Among people who have had club foot: Kristi Yamaguchi, the American figure skater who won an Olympic gold medal in 1992.

Prenatal diagnosis and perceptions of bias

Data here on the unintended consequences of prenatal diagnosis, this from the journal Intellectual and Developmental Disabilities. Mothers of children with Down syndrome in Germany report a much greater feeling of being involuntarily segregated in society today, compared with data collected before the widespread acceptance and availability of prenatal chromosome analysis. The authors note this finding comes even as the prognosis for newborns with Down syndrome is better than ever before in terms of life expectancy, health care and psychosocial support.

“Accordingly, parents of children with Down syndrome may experience a somewhat paradoxical contrast in society between prenatal rejection and postnatal acceptance of their child.”

More quotes:

“…. In a recent survey in Germany of parents with children who have Down syndrome, 26% reported that they had been confronted with accusations that the birth of their child could have been ‘‘avoided’’. This rate was as high as 40.5% among those parents who had received the diagnosis of their child’s disability prenatally. This observation supports the widely discussed assumption that the availability of prenatal diagnosis puts affected families under social pressure by undermining the acceptance of their child with disabilities. “

The authors conclude that mothers experience feelings of greater personal stability and self-confidence than they did 30 years ago, presumably aided by parents’ self support groups, but that they also increasingly feel that their children are being discriminated against.

“... mothers of children with Down syndrome, which the general public widely recognizes as the most prominent example of a prenatally diagnosed genetic disorder, tend to experience the availability of prenatal diagnosis as an emotional burden. Nonetheless, mothers wishing that their child would not live anymore remain rare exceptions. The improved medical care and psychosocial support for children with Down syndrome and their families seems at least to outweigh the emotional stress caused by the option of prenatal diagnosis.”

The report appears in Volume 45, number 2: 98-102. The journal is published by the American Association on Intellectual and Developmental Disabilities. Lead authors: Wolfgang Lenhard, PhD, Erwin Breitenbach, PhD, and Harald Ebert, PhD, institute of Special Education, Wuerzburg University, Wuerzburg, Germany.

PWD* reacts to prenatal screening

The Washington Post runs letters in response to "Haunting Echoes of Eugenics." Bridget Brown, a woman with Down syndrome, compares widespread prenatal screening and termination with genocide directed toward people with disabilities. Her words:

I have a full and wonderful life, and the world needs to know that I do not "suffer" from Down syndrome. Most people I know with disabilities have full and productive lives. My heart breaks when I think that I might be part of the last generation of people with Down syndrome. The world will never again benefit from our gifts. But I will continue to hold hope for people with disabilities. And I will pray for all the people who think we don't have the right to live.

Ms. Brown's letter goes to the heart of the ethical conundrum surrounding universal prenatal screening, which Michael Sandel powerfully explores in "The Case against Perfection: Ethics in the Age of Genetic Engineering" (just out on Harvard University Press). Is total reproductive choice completely beneficial to society? Ms. Brown's experience doesn't lead her to that conclusion. As a person with a disability* (PWD), she encounters daily the uninformed and negative preconceptions people have about her and the quality and value of her life.

Sandel explores the issues around reproductive choice and views it as a mixed blessing. He worries that individuals who are granted this kind of control over their children will come to be held accountable for their children's perceived flaws. The implication: that those who screen and terminate will come to be seen as "responsible" parents, thus justifying a society that lacks empathy and compassion for the lives of those who differ from accepted norms.

Taken together, the aggregation of our private, individual decisions seems to reflects a deep and undiscussed discomfort with those who are different. The implicit message we seem to be sending is that while ethnic diversity is valued and supported in our society, genetic diversity is not. How comfortable would any of us be explaining that paradox to Ms. Brown?

Further reading on this topic: "Confessions of a 'Genetic Outlaw'", by Elizabeth R. Schlitz, in Business Week, July 20, 2006.
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It's worth noting: this is not a discussion about Roe v. Wade. It is a discussion about the paucity of informed consent in prenatal screening, and the collective social effects of individual decision-making.

The paradox of "normal"

Penn State University professor and author Michael Berube, writing in Toronto’s Globe and Mail, asks whether widespread prenatal screening is a reflection of society’s negative views of people with disabilities.

An excerpt:

“ … as a society and as a species, we still don't seem to know what "normal" really is. We could think of the norm as (a) what's left over when we get rid of all the abnormalities, or (b) nothing more than the statistical mean in a fully inclusive society that incorporates every single one of us into public life to the greatest extent possible.

"I prefer (b) myself, and I think you should too; but I worry that uncritical advocates of prenatal screening are thinking in terms of (a). Which leaves us with a bitter paradox -- that 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."

The whole piece can be accessed here.