US groups are in denial over Down’s syndrome testing

I’ll be honest and state that when I first read Leticia Velasquez’s appeal for truth about prenatal testing as it relates to Down’s syndrome I wasn’t entirely sympathetic. I have subsequently changed my mind.

“They denied the 90% abortion rate of DS children and that prenatal testing and genetic counseling were done to seek and destroy our precious children with DS,” she wrote of the document drawn up by five groups – the National Down Syndrome Society (NDSS), National Down Syndrome Congress (NDSC), American College of Obstetricians and Gynecologists (ACOG), American College of Medical Genetics (ACMG), and National Society of Genetic Counselors (NSGC) – in an attempt to reach a consensus about issues about, and perceptions of, prenatal testing as it relates to Down’s syndrome in the context of the Prenatally Diagnosed Condtions Awareness Act and the need to improve information given to parents expecting children with Down’s syndrome.

My initial reaction was that perhaps statistics about abortion rates had no place in information for would-be parents anyway – you can’t guilt-trip someone into choosing to keep a child with disability (or at least you shouldn’t).

However, I then read the document (Pdf) itself and immediately changed my opinion to be supportive of Leticia’s position.

The document is not designed to provide information to would-be parents but to effectively lay out some ground rules for the discussion of prenatal testing. It appears to be an attempt to be as politically neutral as possible on issues related to abortion and disability – which is to be applauded I think. However, the groups appear to have gone so far in attempting to be neutral that they are actually in denial about some issues what most people would hold to be self-evident.

Among the six ‘misconceptions’ are:

Misperception 1: Obstetricians recommend prenatal tests to reduce the number of individuals in society who have birth defects and genetic conditions.

That may not be the primary reason for doctors recommending prenatal tests, but it is the primary driver behind the existence of prenatal testing programmes. As previously discussed in relation to testing programmes in Europe and Australia. As Dominic Lawson wrote of the UK’s programme: it is “hugely expensive, justifiable on cost-benefit grounds purely on the basis that it will detect and destroy children who would otherwise cost the Health Service much more as survivors”.

Misperception 3: Ninety percent of pregnancies prenatally diagnosed with Down syndrome are terminated.

The consensus statement argues that “Several studies reporting older data, studies from single centers, and studies from other countries have reflected variation in the number of pregnancies terminated.” Yes, there are geographic variations, but if there is a study that shows any figure substantially lower than 90% I don’t remember seeing it.

Welcome to Illinois is now on Wellsphere

You can now read updates from Welcome to Illinois on the Wellsphere health knowledge network as part of the Down syndrome Community.

On the fallacy of accuracy

I could hardly not mention the so-called wrongful birth case of Deborah and Ariel Levy, the Oregan couple that is suing the doctor that carried out a CVS test for $14m after the test failed to detect that their daughter had Down’s syndrome.

As the Oregonian reports: “Had they known, they say, they would have terminated the pregnancy. Now they’re suing in Multnomah County Circuit Court, seeking more than $14 million to cover the costs of raising her and providing education, medical care, and speech and physical therapy for their daughter.”

Its easy to be outraged – Down’s Dad does a good job of summing up the initial reaction, but as Cate at I Don’t Know What to Say notes, it is somewhat understandable that the couple should look for someone to blame given that what we are told about the accuracy of diagnostic testing.

“I know I was told that a diagnostic test, like CVS, would provide an absolutely definitive answer. Which of course isn’t true, but who ever thinks they’ll be in that fraction of a percent, the margin of error?”

The fact is that “more than 99% accuracy” is not 100% accuracy but while the statistics are there for everyone to see many health care professionals, in my experience, talk about amnio and CVS testing as if it provides an absolutely definitive answer.

Whatever you think about the rights and wrongs of claiming $14m to care for your child, this case should remind everyone that when it comes to testing for Down’s syndrome, there is not such things as 100% accuracy.

The legacy of Dr George Tiller

I have pondered whether or not to make reference to the murder of Dr George Tiller, also known – to some – as Tiller the Killer, thanks to his willingness to perform late term abortions, and to others as a hero who helped those in need of help when others refused to do so.

In particular, his simple statement “Prenatal testing without prenatal choices is medical fraud” resonated with me, although ultimately I decided that the issue was beyond the scope of this blog.

However, Patricia E. Bauer has linked to a discussion in DoubleX magazine involving Ayelet Waldman, author of Bad Mother, and Elizabeth Weil, a contributing writer for the New York Times Magazine.

The discussion covers the issues surrounding late-term abortions with a specific reference to Down’s syndrome and with honesty and candor, attempts to widen the debate with the hope of finding some common ground. It is certainly though-provoking. Perhaps that, ultimately, will be the legacy of Dr George Tiller. We can but hope.

I’d encourage everyone to read the discussion in full:

Part one: Kansas Stories: What Late-Term Abortions Are Really Like

“I guess I should start by telling you what happened to us. I’m not telling to get your sympathy, but so we can have a conversation, the one that really needs to be had, about what late abortions are really like and why women have them.”

Part two: The Truth About Late-Term Abortions

“It’s only once you join the Dead Baby Club that you realize how tragically large it is.”

Part three: When Is Abortion Not OK?

“Which babies have defects so serious we think it’s OK to decide they can’t live? What do you think about a baby with cystic fibrosis? What about a blind or a deaf one? We all know great people born in horrible bodies. Should we be allowed to say, no thanks, I’d rather try again for a better-formed kid?”

Part four: The Abortion Restrictions I’d Accept.

“Every child should have access to clear and honest information about sex, and to birth control. Every woman should have access to prenatal care and to the health and other services that remove the economic imperative from the decision about whether to have a baby.”

Part five: Elizabeth Weil and Ayelet Waldman Ask Readers to Weigh In

“How do we capitalize on Obama’s promise of change—and the galvanizing horror of Tiller’s assassination—to move ahead the country’s abortion debate, particularly with regard to the late ones?”

Part six: Are We Saying That Society Would Be Better Off Without Down’s Syndrome Babies?

“It’s so much easier to vilify a fantasy, but when the object of your loathing turns out to be your friend or your sister, then suddenly things become much more complicated, suddenly you become capable of seeing shades of gray when once the world looked black and white.”

Research points to potential in utero treatment for Down’s syndrome

Researchers from Tufts Medical Center and Tufts University have published a paper that suggests it may be possible to develop prenatal therapies for Down’s syndrome.

According to the press release, the research suggests that “amniotic fluid surrounding Down syndrome fetuses shows oxidative stress, a condition that could harm fetal cells and play a role in affected individuals”.

The research prompted some surprising new findings:

“The longstanding assumption has been that proteins produced by the additional copy of chromosome 21 were almost exclusively responsible for the atypical development and function associated with the syndrome. A surprising aspect of the findings was that the molecular abnormalities observed were predominantly produced by genes on the other chromosomes.”

The release continues: “Researchers are examining amniotic cells to determine if they show similar genomic profiles to the cell-free material in the fluid. If that is the case, they will begin to look at the effectiveness of anti-oxidant compounds as potential treatment in vitro.”

Of course, any potential treatment is years away, but this is an interesting development nonetheless. I previously covered the potential for in utero treatment here.

The practical and ethical implications of non-invasive diagnostic testing

The Journal of the American Medical Association has published a commentary written by two doctors from the University of Connecticut Health Center, Farmington, on the practical and ethical implications of new non-invasive diagnostic testing for Down’s syndrome.

The article is only available to existing subscribers or those willing to shell out $25, but Patricia E. Bauer has the details:

“Among other concerns, the authors cite these:

– Women currently receiving fetal Down syndrome screening often receive only limited information prior to the screening and are rarely asked to provide inormed consent. Many women are unaware that this screening may ultimately lead to questions about further invasive testing and possible termination of the pregnancy.

– The use of noninvasive testing “may be encouraged” by for-profit laboratories, insurance companies and governmental health agencies that could derive economic benefits from the use of the testing, potentially undercutting individual patient choice.

– The reduced prevalence of people with identifiable genetic disabilities in the population could “subtly alter public attitudes toward the acceptability of continuing an affected pregnancy.” This attitude shift could “diminish understanding and support for affected individuals and their families and increase the stigma associated with having a genetic disorder.”

The authors call for the public, medical professional societies, and the government to be proactively involved in shaping the future of this testing.”

The education dilemma

The Guardian has published another interesting article about Down’s syndrome, this time about the question of inclusion within mainstream schools.

According to the article mainstream schools are increasingly demonstrating reluctance to make the necessary arrangements to help include children with Down’s syndrome.

“The Independent Panel for Special Education Advice (Ipsea)… which gives legal advice to parents whose children have special needs or disabilities, says three times as many children with Down’s syndrome have been refused a statement of special educational needs in mainstream schools this year compared with last.”

The issue of inclusion has been on our minds recently after the matter was covered in Channel 4’s Born to be Different, which follows the lives of a number of children with disabilities.

The most recent update saw the parents of a boy with Down’s syndrome realising that at the age of nine his learning difficulties were such that perhaps it would be best for him and his ongoing social life, to be educated in the future in a school that is specifically designed for his educational needs.

That decision matched with our early thoughts about our hopes for G’s education. Depending on his abilities we would like him to be included in mainstream education for as long as seems appropriate. However, if there were signs that he would be happier in a ’special school’ as and when the delays in his education become more pronounced I would have no problems in making that change.

That is not an attitude shared by all parents of children with Down’s syndrome it would be appear. In the Guardian report one girl’s parents have reluctantly given up their “moral crusade for inclusion” in the face of reluctance to provide her with occupational and speech and language therapy.

While I would currently disagree with the idea that a child’s educational requirements should be the subject of a “moral crusade” it would also, unfortunately, seem that it is getting increasingly difficult to have the choice to include a child with Down’s syndrome.

Gillian Bird, director of education and information at Down Syndrome Education International, says more children with the chromosome disorder are being told they don’t need speech and language therapy, according to the Guardian, while Bob Black, education information officer of the Down’s Syndrome Association, says that ensuring that occupational therapy is on a child’s statement has become “increasingly difficult”.

“Schools are digging their heels in,” Black says. “We are getting the sense that schools, already overburdened with work, are feeling they have enough on their plates and don’t want to make adjustments for this group of children as well.”

Down’s syndrome and cancer

I meant to write about this the other day but I didn’t have time. Now it has been reported everywhere it is easier just to link to the reports: Nature has published a report explaining why people with Down’s syndrome are less susceptible to cancer.

“A gene on the extra chromosome that causes Down’s syndrome helps to protect those with the disorder from some types of cancer.

Sandra Ryeom, a vascular biologist at Children’s Hospital Boston in Massachusetts, and her colleagues experimented with mice and with human cells to show that an additional third copy of the DSCR1 gene (also known as RCAN1) can suppress the growth of the blood vessels that feed cancerous tumours.”

I previously reported on how a better understanding of Down’s syndrome may aid breast cancer therapy.

More on this from the BBC, MIT Technology Review, and Forbes.

NHS screening head admits to accuracy failure of Down’s syndrome screening

The head of the UK’s screening programmes has admitted that the NHS has failed to roll-out more accurate screening tests for Down’s syndrome and that as a result a number of healthy foetuses are unnecessarily lost due to miscarriage triggered by diagnostic testing.

Dr Anne Mackie, the director of programmes at the UK National Screening Committee (UKNSC), told The Guardian that an “estimated 146 babies a year in England who do not have any abnormality are lost as a result” of attempting to detect Down’s syndrome.

That death rate is higher than it should be as only 30% of hospitals offer the combined test for Down’s syndrome, despite it being “introduced by the NHS 10 years ago and declared best method in 2003″.

As previously covered, last year Down syndrome Education International estimated that current screening practice in England and Wales reduces annual live births of babies with Down’s syndrome by around 660 and leads to the losses of 400 babies without Down’s syndrome.

“Mackie blamed the problem on a lack of sonographers, who perform ultrasound scans. The reason is not money but a high burnout rate and the fact that sonographers are not recognised as a separate profession – many start as radiographers – making it an unappealing career option.

The NHS was meant to be ready to offer every woman the combined test by the end of March 2010.”

Kypros Nicolaides, professor of foetal medicine at King’s College London, and inventor of the combined test described the NHS’s failure to roll-out the test nationwide as “scandalous and disgraceful” and stated that “the NHS is failing 70% of women in Britain and causing the death of normal babies.”

While the focus on the unnecessary deaths of healthy foetuses is understandable, I would also suggest that the inaccuracy of the testing process also results in the unnecessary deaths of a number of foetuses with Down’s syndrome – either through miscarriage or through confusion and fear resulting in parents that might otherwise be capable of raising a child with Down’s syndrome choosing to terminate.

The problems caused by the lack of accuracy are highlighted by a follow-up story in The Guardian:

“The difficulty for women and their partners is that the statistical chance of Down’s, for example one in 200, is very comparable to the quoted miscarriage risk of an amniocentesis test, which is between 0.5% and 1%,” explained Jane Fisher of the charity Antenatal Results and Choices.

Sally Hill, a sonographer in Surrey who works both privately and for the NHS, added:

“The consequences of inaccurate Down’s screening are serious and are being ignored. We should be encouraging high standards rather than accepting minimum standards. [There is] considerable variation in different risk calculation software available and this can mean the difference between being deemed high risk or low risk, which is unacceptable.”

UK invests in DNA testing research

The Times is reporting that the UK’s Medical Research Council (MRC) is investing £7m in a national network of centres dedicated to DNA testing research, including the use of DNA testing for the prenatal diagnosis of Down’s syndrome.

Projects include genetic sequencing for transplant matching, “identifying inherited genetic mutations that can cause breast cancer, colon cancer and kidney and eye disorders”, and “studying the genetic factors that contribute to mental illnesses, and infectious diseases such as malaria and the antibiotic-resistant bacteria Clostridium difficile.”

As far as Down’s syndrome is concerned, a “project at the Cambridge hub will evaluate methods of testing the blood of pregnant women for foetal DNA. This could potentially allow prenatal diagnosis of Down’s syndrome without amniocentesis, an invasive test that can cause miscarriage,” The Times reports.

I’ve written about DNA testing for prenatal diagnosis of Down’s syndrome before. In particular Sequenom appeared to making good progress but has subsequently admitted that the data was mishandled by employees.