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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.

13,076

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 politicians form All Party Parliamentary Group on Down’s Syndrome

Posted in Campaigns, Politics by Matt at WelcometoIllinois on August 27, 2009

Some time ago I lamented the fact that the UK didn’t have an equivalent of the US Congressional Down Syndrome Caucus.

The Down’s Syndrome Association reports that has now been put right with the formation of All Party Parliamentary Group (APPG) on Down’s syndrome including 26 MPs, the DSA and DownsEd “to inform MPs and Lords about many of the issues facing people with Down’s syndrome and their families, and ways in which policy changes can improve their quality of life.”

The DSA reports that the APPG has agreed to supports its Tell it Right campaign to improve the quality of information about Down’s syndrome that is given to parents after they have received a prenatal or postnatal diagnosis of Down’s syndrome via a UK equivalent of the US Prenatally and Postnatally Diagnosed Conditions Awareness Act.

The DSA also reports:

“As well as establishing current public funding for research (medical, social and educational) the Group have also agreed to work to establish two National Working Groups, the first to develop a multi-disciplinary, co-ordinated research strategy for Down’s syndrome, and the second on Best Practice Standards in health and medical care, early development, education (including adults), adult social care and employment support.”