FAMILIES living with Down’s syndrome in Oxfordshire have warned that a new, highly accurate test could lead to a surge of abortions and result in the ‘extinction’ of those born with the condition.

Parents of children with Down's insist it is now possible for their sons and daughters to lead fulfilling and happy lives and fear the test, coupled with widespread ignorance surrounding the condition, could lead to far more terminated pregnancies.

They have reacted with horror to the prospect of non-invasive prenatal testing (NIPT) being rolled out on the NHS following a recommendation by the National Screening Committee.

Marion Simon, from Charlbury, is the chairwoman of Down’s Syndrome Oxford, a charity providing early development groups, workshops, seminars and support to families living with the condition throughout Oxfordshire.

Mrs Simon’s six-year-old daughter Amber has Down’s.

She said: “Down’s syndrome isn’t what it used to be. People with Down’s syndrome can do a lot – whatever they put their mind to. They can find jobs, get married and lead fulfilling lives.

“They have to fight harder for it and it is more difficult for people with Down’s syndrome to do some of these things, but they can be tenacious when they want to do something. My daughter certainly is."

NIPT is more accurate than the current screenings used to find Down’s syndrome, with 99 per cent accuracy. It is estimated that 102 extra cases of Down’s syndrome will be detected each year.

Many are deeply concerned that widening NIPT’s availability would lead to a spike in aborted pregnancies. Currently there is a 90 per cent termination rate for babies with Down’s syndrome detected prenatally.

The issue was brought to the forefront in a documentary, ‘A World Without Down’s Syndrome?' by Sally Phillips for BBC2, which challenged the government's investment in state-of-the-art tests.

Mrs Simon said an ignorance within the medical profession means often women are given the number to abortion clinics instead of nearby Down’s syndrome organisations.

She said: “You can’t blame people for not knowing. I didn’t know – and there are a lot of people who grow up never meeting anybody with Down’s syndrome.

"These people need to be given the full picture. They should know that it isn’t a disaster. We’re not putting a bow on it but it isn’t horrible.

“I think it’s a good idea for society to just have a good look at where we’re going with this.”

Emma Smith, 40, lives in Cholsey near Wallingford with her husband Chris and three children: Beatrix, five, Kitty, two, and Amos, three.

Mrs Smith, secretary of Down's Syndrome Oxford (DSO), said that if she had underwent a prenatal test for Down’s syndrome when pregnant with Amos, who has the condition, she would have seriously considered termination due to her lack of understanding at that time.

She said: “I think the science behind the testing is great and it’s wonderful people can test for genetic conditions in the womb but I’m very concerned a lot of the information about things is out of date. 

“There’s an assumption that if there’s a positive result you should terminate the pregnancy. People aren’t really thinking about the decisions they’re making and there’s a very bleak view of Down’s syndrome. 

“Often, the way medical practitioners talk to people sets the tone. The language around the test, for example, talks about the ‘risk’ – but you don’t talk about the risk of winning the lottery.

“I thought Down’s syndrome was the worst thing in the world. If I was told Amos had it, someone like me who didn’t know anything about the condition – it doesn’t bear thinking about.

“Do we want to be wiping out a whole population of people with down’s syndrome? What’s next? People with autism? People with bi-polar disorder?" 

Colette Lloyd and her husband, David, live in Freeland near Witney. Their daughter Katie, 18, has Down’s syndrome. 

Mrs Lloyd, early development group leader at DSO, said she has serious concerns about the implications of widening the availability of NIPT. 

She said: “I’m worried about misleading information – that people are being told the NIPT is a diagnostic test but there are still false positives and false negatives. 

“If this test detected a condition which had prenatal therapy or something, or they could be helped in some way, you could understand – but this is a test that enables people to make a choice on whether to keep or terminate their baby. 

“We value people with disabilities in this day and age. It’s based on an outdated view of the condition.”

Mrs Lloyd pointed out what she sees as a contradiction in society with regards to the condition.

“Just as we’re learning to help people with Down’s syndrome reach their full potential and we’re seeing actors with Down’s syndrome on TV and more opportunities in the world. Just as we’ve got all that, people with Down’s syndrome are being threatened with extinction.”

Dr Brenda Kelly is a consultant obstetrician and fetal medicine specialist at John Radcliffe Hospital, Oxford.

Dr Kelly said: “It is not only the most accurate form of chromosomal screening, it is also safe and simple, which is great from a practitioner's perspective, and very reassuring to pregnant women - both those at high risk and those just wanting the best test.

"I personally hope that the Government continues to move forward with the processes to offer NIPT on the NHS to all high risk women."

On January 15, the National Screening Committee made a recommendation to the Department of Health that NIPT be ‘evaluatively rolled out’ to women with a greater chance of having a baby with Down’s syndrome on the NHS.

The recommendation has not yet been accepted by the DoH – but the NHS constitution states that any screening programmes recommended by the NSC must be rolled out.

  • For every 1,000 babies born, one will have Down’s syndrome
  • About 750 babies with Down’s syndrome are born in the UK each year
  • There are approximately 40,000 people with Down’s syndrome living in the UK