Feature Medicine and the Media

The end of Down’s syndrome?

BMJ 2016; 355 doi: http://dx.doi.org/10.1136/bmj.i5344 (Published 05 October 2016) Cite this as: BMJ 2016;355:i5344
  1. Jacqui Wise, freelance journalist, London, UK
  1. jacquiyoung1{at}gmail.com

A BBC documentary asks questions about the ethics of screening for a condition with improving prospects, Jacqui Wise reports

“Why is Down’s syndrome the disability it is socially acceptable to terminate?” actor Sally Phillips asks in the BBC2 documentary A World Without Down’s Syndrome? (5 October, 9 pm).

Phillips has an 11 year old son, Olly, who likes chocolate ice cream, Barcelona football club, and has Down’s syndrome. He is a funny, loving, engaging child, and Phillips says: “My big question to the world is what is so very dreadful about Down’s syndrome? It’s not a catastrophe. Why is everyone behaving like it’s a catastrophe?”

The NHS will soon offer non-invasive prenatal testing (NIPT), and Phillips fears that this will lead to more terminations for Down’s syndrome, even though the health, life expectancy, and wellbeing for people born with the extra chromosome continues to improve. The simple blood test at 10 weeks of pregnancy can be used to predict the presence of Down’s syndrome and other genetic disorders. The test is already widely available in the private sector, but in January the UK National Screening Committee proposed it should be offered to women as a second stage of screening to women who have a higher than 1 in 150 chance of having an affected baby.1 The committee recommended against offering the test to all women as initial screening because of cost and said that implementation should be evaluated.

Researchers at Great Ormond Street Hospital who carried out the RAPID (Reliable Accurate Prenatal Non-Invasive Diagnosis) evaluation study found that the test is about 99% accurate in detecting Down’s syndrome, which compares with an accuracy of 84%-90% for the conventional combined test.2 It is estimated to reduce the number of women who need to have a confirmatory amniocentesis or …

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