Health & Fitness There's Nothing Wrong With Prenatal Screening Tests, It's What We Do With Them That's Important

14:52  14 november  2017
14:52  14 november  2017 Source:   Huffington Post UK

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Others choose to undergo blood screening tests but nothing invasive, such as amniocentesis. "A discussion about prenatal testing can take up to an hour, time that many doctors just don't have But he found nothing wrong , and baby Robin was born full term, in perfect health, in January 2010.

a hand holding an object © Provided by AOL Inc. Have you heard the latest news? A new method for screening for Down's syndrome, Reflex DNA Screening, was announced to the press last week by Queen Mary University of London (QMUL), with not merely the 'potential to transform' antenatal screening, an attribute that Non-Invasive Prenatal testing (NIPT) was considered to have ... but it will be 'transformational'. Have we really run out of unique superlatives to describes these much-lauded discoveries, designed with the intention to seek out the tiny minority of babies carrying that extra chromosome?

Going by the efforts of the scientific community, it's as if there were some sort of race or goal set in medical schools and Universities to find the Holy Grail of antenatal screening. Oh! Hold on. According to Icelandic geneticist Dr Kari Stefansson that's exactly what did happen '40 some years ago, it was considered one of the goals of Obstetrics and Gynaecology to figure out how to screen for Down syndrome in such a way that Down syndrome could be eradicated'. In the same interview with the BBC, Dr Stefansson also stated, 'and now we are sitting here in Iceland in 2017 and no there are no babies being born with Down syndrome'. I ponder this 'achievement', has it led to everyone in Iceland being richer or happier? Well, perhaps not, because, according to recent research, people with Down's syndrome and their families, are happier than everyone else!! Perhaps this targeted use of screening technology is not a glorious win, but an own goal?

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Geneticists have set themselves a very achievable target. Down's syndrome is one of the most common forms of chromosomal mutations known to man and is fairly easily detected. When a sample of fetal blood is obtained, technicians can simply sort and count the chromosomes in the sample and, bingo! Yet, as each geneticist announces the latest test for Down's syndrome, they can take a bow, go to the top of the class - the media lap it up. Perhaps this explains the overuse of sensational superlatives, geneticists are playing to a receptive, perhaps even naive, audience. After all, the process of antenatal screening isn't easy to explain to a time-starved journalist.

Incidentally, Reflex DNA, is not a new screening test for Down's syndrome, although, in the wake of its upbeat press release, many people considered that to be the case. 'I'm sure they said it was?' I hear many of you say. No, no, let's put this matter to bed right now. Reflex DNA isn't the name of a new test, it's merely a different way of dispensing the highly publicised NIPT, or Cell Free DNA (cfDNA), as it is also known. The Reflex DNA press release was rather disingenuous about the significance of the announcement, the University of East Anglia's Professor Tom Shakespeare even went so far as to Tweet that the media had been 'gamed' by the Reflex DNA announcement.

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We set lower expectations (but expectations, nonetheless), so that if something does go wrong , we ’re armed and ready to deal with it . Although defensive pessimists have low expectations, they use them as motivation to exceed them and thrive.

Currently, Down's syndrome screening protocol asserts that one blood sample is obtained and tested under the triple test method, this protocol is proposed to continue when NIPT is introduced into the NHS. Women whose blood samples show a 1 in 150 chance or greater of Down's syndrome being present will be called back to discuss the offer of NIPT which is claimed to have greater accuracy than the triple test alone. Contrastingly, Reflex DNA, proposes that two blood samples are taken at the initial visit, subsequently, women whose results find a 1 in 800 chance or greater, of Down's syndrome being present, will have their second blood sample sent off to be tested using NIPT, without further consultation with the expectant individual. Note the difference in likelihood here too, this recommended process would lead to increased expenditure in NIPT for participating hospitals with little in return if NIPT proves to be less efficient in the pregnant populations whose chances of an affected pregnancy are considered to be lower.

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The last two items on this list may seem the same, but there ' s a key difference. Some prenatal tests are screening tests and only reveal the possibility of a problem. Other prenatal tests are diagnostic, which means that they can determine — with a fair degree of certainty

Noninvasive Prenatal Testing (NIPT). A simple blood test can tell doctors more about your baby than ever before. Learn about the test that ' s making genetic screening more reliable. The decision is a personal one, and this counseling phase is important .

The Reflex DNA carrot being dangled in front of time-starved clinicians, I see a theme developing here, is that Reflex DNA will not necessitate a return visit from women found to have a higher chance that their baby has Down's syndrome following the standard triple test. One clinician is quoted in the QMUL Press Release as saying that this process will lead to 'more time to devote to other clinical needs'. Oh wait, what about the, no little, matter of informed choice? If we consider these proposals from that viewpoint, the Reflex DNA proposed time-saving, removes at least one of the opportunities for expectant parents to discuss their options going forward, in light of an unexpected result. Some women who initially agree to a test think that they are simply excluding one 'worry' of pregnancy from their mind? They may not have previously considered the reality of a high chance or positive result. They may not have realised the implications of stepping on to the screening pathway or indeed what it's like to live with Down's syndrome. Indeed, many expectant parents do not have knowledge about living with Down's syndrome. Furthermore, this hasn't been a prerequisite for medical professionals working in the antenatal screening environment either. Realistically, attaining informed choice around the decision to screen for Down's syndrome requires time and expertise. It is one of the most important principles of antenatal screening, perhaps even the Holy Grail, challenging, but oh so worth it.

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Greiner said that one common misconception about genetic screening and testing that some pregnant women have is the only reason to do them is Greiner said that some of her patients ask her why they should do prenatal genetic testing because if there is a positive result, the genetic problem

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Last Thursday ITV's, Dr Hilary Jones, was lambasted by the Down's syndrome community following his use of the word 'normal' in relation to a baby unaffected by Down's syndrome, insinuating that a baby with Down's syndrome is not normal. I have some sympathy for him, he was merely using language that many medical professionals up and down the country are using with expectant parents and new parents, week in, week out, his insensitivity is an all-too-common occurrence. The use of discriminatory language is one of the beefs that the Down's syndrome community has with the medical community, seen as a symptom of outmoded medical attitudes towards the condition.

Still, thanks to the effort of campaigners and documentary makers (well you can't have a blog about Down's syndrome without mentioning the actress Sally Phillips), the UK is establishing an Ethics Committee to inform the work of the screening Committee and perhaps, as a result, we can begin to tackle institutionalised Down's syndrome discrimination. Professor Nicholas Wald, whose Wolfson Institute developed the Reflex method in conjunction with diagnostics company Premaitha, appears to be blissfully unaware of this impending brave new world, a world where ethics could be the protagonist, where geneticists submit to having their methods informed by an agreed code of ethics. No, no, no, the Reflex DNA press release declared that Wald et al will be approaching Hospitals on an individual basis. They will be selling their new approach without a nod to the ethics of the matter. Whoa there, Professor! Don't you know? 'A global campaign is emerging to stop the eradication of Down syndrome from the planet.' And it must be true, because we saw it in the media last week.' It's the 21st Century Professor and we need to talk to you about screening.

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More Young Adults Are Living With Their Parents. We say that like it ’ s a bad thing. This leads me to what is possibly the most important reason why many American young adults want to get out from under the parental roof: They want out from under its rules, too.

The crux of the matter is that there's nothing wrong with screening tests, it's what we do with them that's important. Dr Hilary Jones may find the news of another Down's screening method 'exciting' but the Down's syndrome community merely groans and lets out a sigh. New technology, old procedures.

Setting out on a screening pathway is a journey from which individuals should feel confident that they can turn back from at any time. Furthermore, presenting Down's syndrome as abnormal, no more than a list of medical conditions or leading to increased suffering, can catapult many expectant parents, 90% of those who test positive do abort, into despair. That is not the way screening should be carried out and if the UK Screening Committee were to consult people with Down's syndrome then the narrative could be vastly improved. Babies found to have Down's syndrome are wanted babies, and as the 2017 Nuffield Report on NIPT said 'women and couples would be better able to make genuine choices about their pregnancies if all disabled children were actively welcomed when they are born into the world and valued as equal to those without disabilities.' People with Down's syndrome are happy with their lives, please don't screen them out.

Related: Groom reads emotional vows to bride's sister with Down Syndrome (Provided by Rumble)

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