Testing for Down Syndrome

    

So, the new NIPT has been rolled out on the NHS across GB. Those of us in the Down Syndrome community have been shouting about it for a while, certainly back in January when it was announced as being backed for NHS use, but for years before that when we knew it was in the pipeline. For those who don’t know, previously the testing (not in N.Ireland) was done based on bloods at around 12 weeks, which gave you a ‘risk’ of 1 in X of having a baby with Down Syndrome. Anything less than 1 in 150 warranted the offer of an amniocentesis or Chorionic Villus Sampling, both invasive procedures in order to find out for definite. The new test detects 99% of cases of Down Syndrome purely from the mother’s blood tests. This is not a post about the rights or wrongs of abortion, pro-life vs pro-choice but to address many of the questions I’ve been asked over the last few days. A not insignificant number of people have asked me what I think about the test and thought about Sally Philips’ documentary on the subject on Wednesday night past (available on iplayer for those who haven’t seen it) so I thought I’d share my thoughts. Where I’ve included quotes, the use of italics is my own for emphasis.

I’ve split this long post into two sections, the first looks at media coverage of the test generally over the past few years and an analysis of the varying inaccurate statistics cited in these articles. The second half looks at the ethical issues with the test, what came out of the programme and the media coverage of the programme and issues arising.

The test itself

Media coverage of the test generally

The news back in January of this year hailed this new test as a ‘safer Down’s test’ where ‘hundreds of healthy babies could be saved’ most quoting figures of 300 to 350 babies being lost each year in miscarriages as a result of amniocentesis eg  http://www.telegraph.co.uk/news/health/11656635/Blood-test-for-Downs-syndrome-may-save-babies.html

The language in these articles is heart breaking. That Telegraph article above describes the current process for women who are “at high risk of having children with the debilitating condition”. Debilitating. Seriously.

Regularly these articles describe people with Down Syndrome as ‘sufferers’, it is wrongly described as a disease and provides no balanced information from the Down Syndrome community. These articles are not only inaccurate (I get on to the statistics quoted below) but they perpetuate this climate of fear around Down Syndrome. Something that pregnant women would hate to find out their baby had. People I know now because we have kids with Down Syndrome say they are so glad they DIDN’T find out ante-natally as their view had been completely shaped by media coverage of Down Syndrome and they are horrified at the thought of what they might have done with the news had it been given to them ante-natally.

Statistics

-          All these news articles bandy figures around that don’t match each other let alone there not being studies to prove them. The biggest one is the current miscarriage rates following invasive testing. The figures do not add up. That article above mentions one in 100 amniocentesis procedures resulting in a miscarriage. Some NHS trusts quote that figure on their information for patients. Others use a 1 in 200 rate. Others say ‘between 1 in 100 and 1 in 200’, again with no evidence as to where that rate comes from.

-          The reality is that there was a study done in 2006 that reported the risk was actually 1 in 1,600. Following that study, the Washington University School of Medicine looked at all their data for a 26 year period and concluded the risk of miscarriage after an amniocentesis was only 0.13 percent, or a 1 in 769 chance. Quote: “0.97 percent of women who had amnio before 24 weeks had a spontaneous late miscarriage or preterm birth, but miscarriage also occurred in 0.84 of women who did not have an amniocentesis.” (source: https://www.ncbi.nlm.nih.gov/pubmed/18310360) The study concluded the difference was not statistically significant. I was not informed of this when I went for my amniocentesis in my pregnancy with Daniel. I found it out for myself and decided to agree to the procedure. I wouldn’t if I was to go back in time, but that’s for another post!

-          Based on the figures quoted in news outlets around 300-350 babies are lost each year following an amniocentesis (see Telegraph article above), so at a quoted rate of 1 in 100  then the number of amniocentesis procedures must be around 30,000. This seems very high to me with a birth rate nationally of around 800,000, so almost 4% of pregnancies getting an amniocentesis. So I investigated further and found another article from 2011 (triumphant in the new test being on the horizon) and it mentions 3,000 amniocentesis procedures a year in the UK. Another conflicting figure, you’ll notice the variation in these are all by factors of over ten. Massively inaccurate reporting.

-          Either way, there are hardly hundreds of healthy babies (almost all the press coverage and statements from the medical professionals behind these tests states how the new test will prevent the death of a healthy baby after an amniocentesis, i.e. little care if a baby that had one of the syndromes died as a result of the amniocentesis) dying after amniocentesis procedures. I’ve done a table of what I think the real rate is:

 

 * source: http://www.telegraph.co.uk/news/health/8257823/Amniocentesis-Could-I-have-forgiven-myself-for-terminating-a-pregnancy.html

Yes, that’s only 4 babies. And who knows, perhaps one or two of those may have had a chromosomal disorder anyway, so really, the all important (this is sarcasm in case it’s not obvious) healthy babies are only a few at most.

Statistics around the healthy babies that could be saved by introducing the new NIPT are the thing that are pushed about as the main benefit, yet right here we can see it is nowhere near the levels that the press statements suggest.

 

 

Ethical issues with the new NIPT

So, here goes. Obviously as a mother of a wonderful, precious child with Down Syndrome, I am biased. I get that. So was Sally (the main criticism of the documentary). But the reality is, I know more than most who are discussing this about the ‘hardships’ and ‘struggles’ of life with a child with Down Syndrome. My experience is fact for me and in order for the information out there to be balanced, we who live with Down Syndrome feel we have to shout so loud to get heard through a media heavy with stories about women’s choice, the ‘burden’ of a disabled child and the pursuit of perfection in children.

This test is eugenics, pure and simple.

The abortion rate in the UK is around 92-94% when people get a positive diagnosis for Down Syndrome ante-natally. The issues around this new test are that (a) it is non-invasive so the uptake will be higher (b) they are pushing the diagnosis back earlier in pregnancy and (c) still not providing balanced information to families. These three things together are likely to lead to a significant increase in the number of cases of Down Syndrome detected ante-natally and if the abortion rate stays the same (due to point c, I can’t see why should assume anything differently) then that will lead to a significant decrease in the number of babies born with Down Syndrome.

Other countries with this test have managed to produce a 100% abortion rate (Iceland) or have an objective of ensuring no babies are born with Down Syndrome by 2020 (Denmark). These are rational, sensible countries. We have this idea that choice is such a great thing, but what about the babies impacted? No chance at life, and a life that can be fulfilling, good and happy at that. What message are we giving to those who have Down Syndrome? They are being judged completely on their karotype. Their lives reduced to a list of chromosomes and possible conditions. People with Down Syndrome are happier than any other group in society. Brian Skotko’s research of over 3,000 people with Down Syndrome showed that 99% of people with Down Syndrome were happy with their lives and 97% agreed that they liked who they were. I’ve been doing talks to six formers for the last few years about Down Syndrome and this statistic always blows their minds. You’d struggle to find a fraction of that level of satisfaction in people without Down Syndrome. People with Down Syndrome may have a lower IQ, but did you know they have great visual strengths and therefore a child with Down Syndrome can read at the same level as a peer without? People with Down Syndrome also tend to have superior emotional intelligence, a quality that is incredibly valuable in society but one that is not measured or discussed.

Life and quality of life cannot be predicted by a blood test when you are 12 weeks in utero. Nor can it be projected from the way at child is at 4 years old, or 14 years old. Who knows what is around the corner for any of us, but saying that my son’s life is not worth living is a disgrace to modern society. We claim to be inclusive and welcome diversity in society, yet at the same time pursue perfecting a blood test to detect a chromosomal disorder so as not to lose healthy babies in an amniocentesis and instead ensure as many people as possible have the opportunity to find out as early as possible and ‘deal with the problem’.

This is not me extrapolating my viewpoint across the nationwide testing, this is what this is about. People are not congratulated when they are told their child has Down Syndrome. They are told the doctors are sorry. Many women on the mainland are then immediately informed of what termination slots are available that week. No discussion about the reality of living with Down Syndrome (incredibly positive experiences by the vast majority of families, in case you hadn’t picked that up!)

 

 

 

The documentary itself

There have been so many amazing articles following the programme that I won’t claim to have anything new to add to the discussion so this is just a quick overview. To anyone in the Down Syndrome community the documentary was big time name dropping. The names we know and love, like Sue Buckley at DSE to Professor Lyn Chitty and ARC’s Jane Fisher. These names come out regularly in discussions about the tests and it was fascinating to see what they had to say. The proponents of the test knew that Sally was coming to talk to them, they knew that she has a son with Down Syndrome and yet they still couldn’t manage to hold back from what they really thought, using terms like ‘burden’ and ‘cost to society’.

In one of the Telegraph articles linked above, Professor Lyn Chitty (she’s from the UCL Institute of Child Health and Great Ormond Street Hospital) who features in the documentary, is quoted as saying “The reduction in invasive testing also means there will be a reduction in miscarriages and loss of unaffected babies which is much better for parents." After what I’ve said above you’ll see that the reality is there are very few babies lost as a result of invasive testing and yet again there is that subtle mention of the healthy babies being the one we want to save.

It was also interesting that when Sally pushed the geneticist George Church about the testing he actually agreed that it was important to educate the masses, but turned this back to us in the Down Syndrome community to do, to show and tell how our loved ones with Down Syndrome are “valuable members of society”. Do people with Down Syndrome have to earn the right to life then? To prove their worth?

Finally, the lady who had aborted (after the normal cut off point for termination, because as the documentary discussed, you can abort a baby with Down Syndrome right up to term) her baby. It’s hard to find the words. It was classic post fact rationalisation as she discussed reading about a five year old with Down Syndrome who wasn’t walking and was really heavy to carry. An extreme case at one end of the ‘spectrum’ but when she then watched a video of perhaps the other extreme, a gymnast with Down Syndrome who has numerous world and national titles to her name. Surely now she could see the value in a life with Down Syndrome? No. This poor girl had to work so much harder than anyone else to achieve this and she wouldn’t have wanted to put her child through that. I’m sure most of us are much prouder of our hard fought achievements in life than the ones that came easily, but above that, this woman genuinely stated that she had done what was best for the child. Best for the child was ensuring it never had a chance at life?

 

Media coverage of the documentary

I have been surprised at the press coverage largely being critical of the documentary for being too personal, too rose-tinted about Down Syndrome and based on feelings not facts.

A few articles genuinely stated that the documentary could make women who had an abortion feel guilty and that is not a nice thing to do. Firstly, no one can be forced to feel guilty. If you feel guilty that’s your moral compass telling you you did something wrong and you know it. Secondly if women who were going to have an abortion, particularly one after the usual cut off point find making the decision to terminate harder as a result of the show (this was the ARC director Jane Fisher’s point) well then, good. A decision to kill a baby should be one that is hard to make. And frankly, one that makes you feel guilty too. To read an account of how those babies, capable at this point of living life outside the womb, are killed is horrific. I personally think the programme was actually very reserved. The only judgement made on late term abortions was Sally saying how she found it hard that this lady was saying her son’s life wasn’t worth living. This is discrimination and inequality. Anyone can abort to 24 weeks, but a child with Down Syndrome can be aborted until they are full term in the pregnancy. Horrific.

There were also a number of articles talking about Sally’s wealth and position saying things like “she’s well off, which means she doesn’t have to scrap for funding for every bit of support that Olly needs” (New Statesman) which is offensive to both Sally and us regular mums without lots of money. All of us are just doing the best we can for all our kids. As someone said to me the other day, they’d read somewhere about how typical mums are paying for their kids to do baby signing classes, while we do Makaton (courses normally funded by the NHS incidently!), other parents are taking their kids to baby sensory while we have occupational therapy. All the same things, just with different badges. And the fact I’m not paying £10 a pop for a class! Truth is money can make lots of things in life easier, but I don’t think that parents of children with Down Syndrome wish they had limitless cash to improve their child’s prospects. Most of us are just doing the same things everyone else does with their kids anyway.

Organisations like DSA continue to sit on the fence saying it is pro women making their own choice and emphasising the Tell it Right campaign. The problem is there is a terrifying agenda at play here. By standing back and letting women be surrounded by language about risk, testing, unbalanced media coverage and medical information they are facilitating an environment which is likely to result in a massive reduction in babies born with DS. They are very good at campaigning for proper support being given to women, and their concerns around the NHS’s capabilities for supporting women when this test is offered to all but the truth is impartiality around this issue is NOT what the Down Syndrome community needs. Sally spent years putting the figures under people’s noses, asking documentary makers to cover this important ethical subject. And yet people turned a blind eye. Much in the way people turned a blind eye in Nazi Germany to Hitler exterminating everyone with Down Syndrome, an entire nation purged of these precious souls. We’re just doing it before they’re born but with the same motive.

There was also press coverage that I know is just click bait but away from the Guardian type articles about guilting women who chose to abort, there were others in tabloids that said how this was all too rose tinted. I just cannot understand why everyone thinks we’re lying. We’re told Down Syndrome will ruin our marriages (it won’t, we’re less likely to get divorced than you guys with 46 chromosomed kids), the child will be a burden (he’s not, he’s an absolute joy) and we should be selfish and pursue the perfect life with the perfect child (I’d rather not. If this is imperfection, I don’t want perfect. I genuinely would choose this path again if I could). It’s like ARC, geneticists, midwives, doctors, Katie Hopkins (can’t believe I credited her with a mention) all believe we’re kidding ourselves about the life we lead. But I genuinely would welcome another baby with Down Syndrome tomorrow. Daniel is the light of our home. He has taught me so much and I am terrified about where this attitude to the new testing will lead us.

If you got to the end of this, well done. You must’ve had a big cup of coffee! If you’re inclined to donate to any charities, please consider https://www.dseinternational.org/en-gb/ who continue to do amazing scientific research and produce evidence based resources for families (at a cost) when government and other central funding for Down Syndrome goes almost exclusively to producing a test to try and reduce the numbers of babies being born with it.