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Getting it wrong and telling it right

Posted in Attitudes to disability, Campaigns, Personal, Screening by Matt at WelcometoIllinois on January 2, 2010

My older sister is currently expecting her second child. Being a few years older, and therefore statistically more likely to have a child with Down’s syndrome, and also having seen from our experience that it pays to be prepared, she is likely to have a combined test in the coming weeks to assess the possibility that my new niece or nephew has DS.

However, this post isn’t about my sister or the next addition to our family. Its about the health care “professional” who told my sister that she shouldn’t be overly concerned there is a history of Down’s syndrome in the family since the link is via her brother (me) and Down’s syndrome “is passed down the mother’s side”.

The ignorance revealed in that statement is staggering. To be clear, Down’s syndrome can be the result of inheritance from one of the parents (who would not show any signs of chromosomal abnormality) but that form of translocation occurs in only 1/3 of 4% of cases of Down’s syndrome, and in any case can be inherited from either the father or the mother.

This information itself would only be relevant in my sister’s case if G had Translocation Down’s syndrome, which he doesn’t. But then it sounds like the health care worker concerned is having trouble with the basics, let alone the difference between Trisomy 21, Translocation and Mosaic Down’s syndrome.

It is frightening to think that someone lacking a basic understanding of Down’s syndrome is providing advice to expectant couples.

It is also a timely reminder that the Down’s Syndrome Association’s Tell it Right campaign involves a petition to the UK Prime Minister to provide high quality information in the diagnosis of Down’s syndrome. For those in the UK there are just five days left to sign the petition.

Recent news and views

Posted in Attitudes to disability, Learning disability, Screening, Therapeutic treatments by Matt at WelcometoIllinois on November 24, 2009

We’ve been really busty with various work, home, and illness-related issues recently. Here’s some recent news stories I haven’t had time to blog about:

  • Athletes with intellectual disabilities to compete in 2012 Paralympics – The Times
  • Great news. It’s about time intellectually disabled athletes stopped being punished for the crimes of the intellectually able but morally corrupt.

  • Mentally disabled actors are victims of modern ‘blacking-up’, says campaigner – The Guardian
  • An interesting perspective, and one that I have some sympathy for.

  • Drive to improve pregnancy scans for Down’s syndrome – Daily Mail
  • “Guidelines for scans that assess the risk of Down’s syndrome in later pregnancy are being drawn up in an attempt to improve their accuracy.” Good. See here and here for previous posts about the importance of accuracy.

  • Sarah Palin: my life with a Down’s syndrome child – The Times
  • An interesting read, whatever you might think about her.

  • Progress towards possible Down’s syndrome treatment – BUPA and numerous other sources
    “Medicines that target specific nerve cells in the brain could reverse poor mental function in people with Down’s syndrome, according to new research.”

  • Human beings are not capable of deciding whether to continue with the pregnancy of their unborn child based on statistics and percentages

    Posted in Diagnostic testing, Media, Screening, Statistics, This blog by Matt at WelcometoIllinois on October 29, 2009

    The UK’s coverage of Down’s syndrome screening and statistics continues following the publication of a report in the BMJ.

    Tom Shakespeare, research fellow at the Institute for Policy and Practice at Newcastle University, has written an interesting and provocative piece looking beyond the statistics to the human cost of screening for Down’s.

    I started off submitting a quick comment but it quickly became the spelling error-packed diatribe I have been considering writing for some time. I’m not sure where I am going with this in all honesty, but I think I am building to something here…

    Having been through the process of dealing with a pre-natal diagnosis of Down’s syndrome I have come to the conclusion that human being are simply not capable of deciding whether to continue with the pregnancy of their unborn child based on statistics and percentages. I agree with Tom that we need more research into the long-term emotional consequences of these difficult decisions but would go further and suggest that we need to radically rethink how we as a society approach screening.

    In my experience, johnthewayne is correct: “we test for downs, not because it is the worst thing in the world, but simply because it is possible”. The result is that parents are supplied with information that is supposed to be “accurate” but tells them nothing.

    These were ours: “a one in 11 chance based on the nuchal fold; one in 4,000 based on the blood; one in 76 in total, compared to one in 300 on average for my wifes age; a 95% accuracy rate for the combined test, compared to 85% for just the nuchal fold measurement; a one in 100 chance that the next test could result in a miscarriage.”

    If you think you know what you would do faced with these statistics think again. You cannot possibly know until it is your own child you are deciding the fate of.

    Then there is the fact that the effects Down’s syndrome are a spectrum. Will your child have heart problems, thyroid problems, gastrointestinal problems, hearing problems, leukemia, hypotonia? None of the above? How severe will the learning impairment be?

    The screening process asks all of these questions and provides answers for none of them, and yet we are expecting would-be parents to use the results of screening to decide the fate of their unborn child. Counselling can help parents understand what Down’s syndrome is, but it does nothing to help them make the most important decision in the life of their child.

    In this context it does not surprise me that so many people decide to terminate following a pre-natal diagnosis (aside from the fact that they may decide they do not want to or not capable of raising a child with Down’s syndrome, which is an entirely valid response).

    In my experience the decision to terminate is the only choice facing parents that enables them to regain control of the situation. As we considered out options we were drawn almost inevitably towards termination by the fact that it was the only decision that provides a definitive outcome, rather than more chance.

    I say almost – in the end we decided that Downs syndrome, in and of itself, was not enough to justify abortion, and that we would take that chance. Our son is now one year old and healthy and happy and I have not regretted our decision for a second.

    However, my desire to rethink the screening process is not based on ensuring more parents take the same decision as us – that is for them to decide – it is a desire to ensure that the process itself reflects the severity and long-term implications of the decision itself.

    The burden of Down’s syndrome

    Posted in Attitudes to disability, Screening by Matt at WelcometoIllinois on September 28, 2009

    Anyone who reads a lot of Down’s syndrome-related news and blogs has probably already read the recent posts by “Skeptical OB” Dr. Amy Tuteur in which she asked whether we should lament the potential disappearance of Down’s syndrome and questioned whether counselling for pre-natal diagnosis of Down’s syndrome is inadequate.

    Plenty of people have responded to her questions in the comments, so I won’t go over all that again, but I did want to address her characterisation of raising a child with Down’s syndrome as a burden. In particular she referred to “the lifelong burden of caring for a disabled child” and that:

    “Raising a child with a serious genetic anomaly is a major burden, one that never ends and one that often gets harder as the years go by.”

    Is raising a child with disabilities a burden? Undoubtedly it is difficult, and for some that difficulty can become a burden. But since when was raising any child easy?

    What is striking about Dr. Tuteur’s attitude is the manner in which she has responded to comments from parents that dispute her view, however. She has completely dismissed any suggestion that raising a child with Down’s syndrome might not be seen as a burden and maintained that any parent who denies that view is the exception, rather than the rule.

    Is she correct? Perhaps. I can only speak for our own experience. But then that is better than no experience and the assumption that your view is shared by the majority.

    It occurred to me while reading Dr. Tuteur’s first post that perhaps she was projecting her own views about disability as a societal burden onto others.

    That theory gathered further momentum given her follow-up post, in which she denied that counselling offered to parents receiving a pre-natal diagnosis of Down’s syndrome is inadequate. In this post she stated that the concern of parents of children with Down’s syndrome “is hardly selfless” and pointed out that there are fears that as the population of people with Down’s syndrome declines, so will the institutional support and funds for medical research.

    The suggestion that parents of children are acting out of selfishness is the most offensive thing she has written. Of course they want to improve services for their children. What parent doesn’t? However, improving support and research funding is a means to an end, not an end in itself. The end result is a better life for your child. What parent wouldn’t want that?

    Clearly Dr. Tuteur is concerned about funding being directed to Down’s syndrome that might otherwise be spent elsewhere.

    I previously noted that in much of the discussion about Down’s syndrome screening there is an assumption that reducing the number of children with Down’s syndrome is beneficial to society but that very few people are prepared to address the reason why directly: which is that it reduces the amount of money society needs to spend to care for and support them.

    If you believe that Down’s syndrome is a burden to society at least be prepared to come out and say so rather than projecting your opinions on to others.

    Death panels for Down’s syndrome and the disappearing population

    Posted in Politics, Screening by Matt at WelcometoIllinois on September 19, 2009

    Congresswoman Cathy McMorris Rodgers gained a lot of respect from me for her involvement in the Congressional Down Syndrome Caucus and its role in promoting the US Prenatally and Postnatally Diagnosed Conditions Awareness Act.

    However, McMorris-Rodgers has blown it by jumping on the Sarah Palin’s “death panels for Down syndrome” bandwagon.

    According to CNN: “Surrounded by a group of parents clutching pictures of their special needs children, two Republican members of Congress stood in front of the Capitol on Tuesday and warned that President Obama’s proposed health care system will lead to a rationing of care for children with disabilities.”

    Like Logan at Disposable Brain, I would like to draw your attention to the following:

    “McMorris-Rodgers could not point to any specific language in the legislation currently before Congress that would deny health care to disabled children.”

    I cannot believe that people like Palin and McMorris-Rodgers are not being held responsible for wasting people’s time by misdirecting such an important debate despite having no evidence for their claims whatsoever.

    I previously noted that the US National Down Syndrome Congress is in favor of health care reform, noting that the current system does not adequately serve people with Down’s syndrome.

    Meanwhile Brian Skotko, clinical genetics fellow at Children’s Hospital Boston, has expressed concern about new non-invasive pre-natal testing techniques for Down’s syndrome and other conditions, asking: “As new tests become available, will babies with Down syndrome slowly disappear?”

    “Research reviewed by Skotko showed a 15% decrease in births of babies with Down syndrome between 1989 and 2005 in the United States. In the absence of prenatal testing, researchers would have anticipated the opposite – a 34% increase in births – due to the trend of women waiting longer to have children; known to increase the chances of having a baby with Down syndrome.”

    Skotko also suggested some practical steps that could be taken to help reverse this situation, such as “Develop guidelines around how health professionals should deliver a diagnosis of Down syndrome” and “assemble information packets that give accurate, current information on Down syndrome”.

    The second of this is of course one of the major deliverables of the Prenatally and Postnatally Diagnosed Conditions Awareness Act, and the Science Daily report notes that such an information pack has recently been selected by the National Down Syndrome Society and the National Down Syndrome Congress.


    Posted in Attitudes to disability, Screening, Statistics by Matt at WelcometoIllinois on September 5, 2009

    There are a lot of statistics thrown around related to prenatal screening and Down’s syndrome, such as the percentage chance that the baby has Down’s syndrome, the accuracy of the test itself, the number of diagnoses, the percentage of diagnoses that result in termination, and the number that result in live births.

    One statistic that I have never seen is the total number of prenatal diagnoses that resulted in termination. Thanks to the UK’s National Down Syndrome Cytogenetic Register the figures are there to be calculated, however. You’ve probably already guessed that I’ve done just that. Since screening tests were introduced in the UK the total number of prenatal diagnoses of Down’s syndrome that have resulted in termination in England and Wales is 13,076.

    To put that figure in context, the NDSCR figures indicate that in the same period an estimated 12,641 children were born with Down’s syndrome. Even if you assume a miscarriage rate of 2.8% (the average over the same period) that means that since it began the UK’s prenatal screening programme has directly led to more terminations of children with Down’s syndrome (12,710) than have been born with Down’s syndrome.

    Incidentally, 12,000 people looks like this:

    It’s hard to discuss statistics like this without making some sort of moral judgment. That’s when things start to get difficult. Personally, I support the right of those 26,000 or so parents to reach whatever decision is best for them from the choices that are available. And I think it is important to remember that for the majority of those parents the decision to terminate will have been an extraordinarily difficult moral dilemma.

    That said it is possible to separate the individual from the collective, and I would question whether we, as society, should comfortable with a programme which has specifically targeted and prevented half a potential population of people from being born.

    DownsEd has estimated that there are over 40,000 people with Down syndrome live in the UK, so whether the true figure is 13,076 or 12,710, or somewhere in between, we are talking about a significant percentage of the total Down’s syndrome population.

    The question is particularly relevant since, as noted by DownsEd, “there has been no parliamentary discussion or law on screening in Britain”. I have also previously noted that there are real doubts among ethics professionals about whether screening for Down’s syndrome is event ethical, and a 2003 report on the subject stated that “screening was introduced [in the UK] based on small scale preliminary studies and without ethical review.”

    Debate on the ethics of screening is long over-due, especially with the news that the UK’s National Health Service has begun a program to develop non-invasive blood tests that will reduce the risk of ante-natal testing and the fact that the working group considering the potential use of such methods has warned that “a possible consequence of increased testing is more terminations, which could in turn result in increased social pressure to terminate, particularly if the diagnosed conditions were to become rarer in society resulting in a decline of support services.”

    Fortunately, there has probably never been a better opportunity for the debate to occur, with the recent formation of the All Party Parliamentary Group (APPG) on Down’s syndrome.

    Even without wider societal debate, however, what is needed at an individual level is better information for parents that helps them to make a difficult decision following prenatal diagnosis from a position of knowledge and understanding, rather than rear and doubt.

    There is also hope for the too, with the APPG adopting the Down’s Syndrome Association’s campaign to improve information for parents.

    UK NHS developing non-invasive diagnosis tests

    Posted in Diagnostic testing, Genetics, Scientific research, Screening by Matt at WelcometoIllinois on August 9, 2009

    The Guardian reports that the UK’s National Health Service has begun a program to develop non-invasive blood tests that will reduce the risk of ante-natal testing for a number of conditions, including Down’s syndrome.

    I’ve written about non-invasive diagnostic tests a number of times, including the news that the UK’s Medical Research Council (MRC) is investing £7m in a national network of centres dedicated to DNA testing research.

    The latest new concerns a £2m grant from UK National Institute for Health Research (NIHR) to a study entitled Reliable Accurate Prenatal non-Invasive Diagnosis (RAPID), which will run for 5 years from April 2009 and test non-invasive alternatives to amniocentesis and CVS.

    Specifically the program will investigate the use of circulating cell-free fetal nucleicacid (cffNA) technology for non-invasive prenatal diagnosis (NIPD).

    Interestingly, the Guardian reports, and this report (PDF) from the working group considering the potential use of NIPD confirms, that tests based on the analysis of cffNA have been available as a service to hospital trusts since 2001 for “rhesus negative women whose baby is at high risk of having potentially fatal anaemia or jaundice.”

    However, the potential use of cffNA as part of the national screening programme is a different matter – one that could potentially increase the accuracy of ante-natal testing for genetic abnormalities and other conditions, but also one that raises significant practical and ethical concerns.

    These concerns were not lost on the working group investigating the increased use of cffDNA. The working group report suggests that the national implementation of cffNA for Down’s syndrome screening could be possible in five years but also notes that “a possible consequence of increased testing is more terminations, which could in turn result in increased social pressure to terminate, particularly if the diagnosed conditions were to become rarer in society resulting in a decline of support services.”

    The working group report adds:

    “It is therefore important to ensure that policies in this area are genuinely motivated by concern for parental autonomy, rather than any sense of reducing financial and social ‘burden’, and that the experiences of disabled people and their families be fairly reflected when framing policy and educational materials.”

    In particular, given blood tests are a routine part of any pregnancy, the working group reports that it will be important to ensure that any NIPD tests are not taken lightly.

    “If cffNA tests were made available to all pregnant women early in pregnancy as a replacement technology, there would be a need to move towards the rigorous informed consent model commonly used for diagnostic testing, where an active decision is made following discussion with a health care professional.”

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

    Posted in Screening, Statistics by Matt at WelcometoIllinois on May 16, 2009

    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.”

    The latest Down’s syndrome statistics from England and Wales

    Posted in Diagnostic testing, Screening, Statistics, Termination by Matt at WelcometoIllinois on April 5, 2009

    I just noticed that the UK’s National Down Syndrome Cytogenetic Register has published its latest annual report sometime in the last two months.

    I haven’t seen any reporting of the latest statistics in the mainstream press – quite possibly because they contradict the false accounts of earlier statistics that were widely reported late last year.

    UPDATE – The mainstream press picked up on these statistics six months later – UPDATE

    The Register has changed to financial years for its reporting (presumably the UK government’s financial year, ending March 31) which makes direct comparison with the figures used in those reports impossible, however these are the preliminary stats from the current report (PDF):

    • In 2007/8 there were 1,843 diagnoses of Down’s syndrome In England and Wales, of which 60% were prenatally diagnosed.
    • In 2007/8 there were an estimated 743 Down’s syndrome live births, a live birth rate of 1.2 per 1000.
    • Between 1989/90 and 2007/08 there has been a 72% increase in the number of diagnoses of Down’s syndrome in England and Wales from 1,075 to 1,843.
    • The number of live birth has fluctuated over the years but overall has decreased by 1%, from 752 to 743.


    Morris JK, The National Down Syndrome Cytogenetic Register 2007/8 Annual Report. Barts and The London School of Medicine and Dentistry. Queen Mary University of London 2009.

    Since the register started collecting data on 1st January 1989 the annual number of Down syndrome diagnoses has increased steadily, firstly due to the considerable increases in maternal age, the major known risk factor of the condition, and secondly due to the increase in the numbers of DS pregnancies diagnosed prenatally, many of whom were non-viable and would have miscarried and therefore remained undiagnosed in the absence of prenatal screening.

    The report also indicates that as screening has become more widespread the percentage of prenatally diagnosed cases that result in termination has been on average 91.4%, with a low of 88.4% (1990/91) and high of 93.2% (1989/90 and 1993/94).

    The latest also notes that “The register is funded by the National Fetal Anomaly Screening Programme until March 2009. The Department of Health is then funding the NDSCR for only 1 year until March 2010.” It’s not clear what will happen to it after that.

    Parents of children with genetic conditions avoid further prenatal testing

    Posted in Attitudes to disability, Diagnostic testing, Ethics, Screening, Termination by Matt at WelcometoIllinois on February 26, 2009

    Research from the Egenis research centre at the University of Exeter suggests that parents of children with genetic conditions would rather avoid prenatal testing with subsequent pregnancies – and indeed actively avoid subsequent pregnancies – due to the the the moral or existential dilemma raised by the limitations for diagnostic testing.

    This report from the University of Exeter notes that “more than two-thirds of parents in the USA-based study chose not to have any more children rather than accepting tests to identify or avoid the birth of an affected child. Of the parents who did have further children, a majority chose not to make use of prenatal screening or testing.”

    Dr Susan Kelly, a Senior Research Fellow at Egenis said: “Many parents did not perceive the information they understood to be available from prenatal testing to be useful or relevant to their sense of responsibility and control. Experiencing the birth of an affected child for some parents exposed the limitations of medical knowledge and practice, and placed medicine alongside other forms of interpretation and evidence. Interventions such as genetic testing for many were associated with uncertainty and a loss of control for parents as responsible caretakers and decision makers.”

    I would absolutely agree that the loss of control and sense of helplessness was one of the reasons I have such a negative view of pre-natal testing following our experience. I documented in Waking Up in Illinois how a desire to regain control over our situation almost drove us towards termination.

    Given that termination is the only decision that will result in a definitive outcome and place us back in control of the situation, it begins to become almost the default option, even though it is not the decision that either of us want to take.

    I cannot explain how glad I am that we did not take that decision but I can understand why for so many people it is the decision they take to regain control, and I completely understand why in subsequent pregnancies people would avoid losing control in the first place.

    The full study, Choosing not to choose: reproductive responses of parents of children with genetic conditions or impairments, is available from Sociology of Health & Illness.

    It also notes that “many parents did not perceive the information they understood to be available from prenatal testing to be useful or relevant to the circumstances of their reproductive decisions; that is, to their sense of responsibility and control” and that “Many parents expressed a significant disjuncture between biomedical views of genetic conditions or impairments and parents’ lifeworld experience.”