Kristine L Ming

A world without Down’s syndrome?

Sally Phillips and her son Olly

Ninety per cent of people in the UK who know their child will be born with Down’s syndrome have an abortion – so there are concerns a new, highly accurate test to identify babies with the condition, will lead to even more terminations.

“The doctor said to us: ‘I’m sorry, I’m so sorry.’ The nurse on duty cried. I don’t think anyone said anything at all positive,” says Sally Phillips. “It wouldn’t have been any different if they’d told me my child wasn’t going to make it.”

Her son, Olly, was 10 days old, when he was tested for Down’s syndrome – the results came back positive. But Phillips – the actress and screenwriter best known for her roles in Miranda and Bridget Jones – found life with a child with Down’s syndrome was not what the hushed tones and apologies had led her to expect

“I was told it was a tragedy and actually it’s a comedy. It’s like a sitcom where something appears to go wrong but there’s nothing bad at the end of it.”

She describes life in her family as “just slightly funnier than in other families,” thanks to Olly, who is now 12 and goes to a mainstream secondary school. She also has two younger children, neither of whom have Down’s.

“Having Olly in my life has changed me and my family for the better. He has slightly worse impulse control but that means that it’s very funny because he’s often saying exactly what everybody’s thinking but is too shy to say.

“He’s also incredibly caring. He’s the only one of my three kids who every single day will ask me how my day was. He’s really kind. He’s really focused on other people. He’s really gifted emotionally. He’ll notice if people are upset when I won’t.”

Find out more

Media captionMeet Sally and Olly

Sally Phillips explores the issues around the new prenatal test in A World Without Down’s Syndrome at 21:00 on Wednesday 5 October on BBC Two.

In the UK, about 750 babies are born with Down’s syndrome every year and there are an estimated 40,000 people in the country living with the condition.

Most people have 23 pairs of chromosomes, but people with Down’s have an extra copy of chromosome 21, which means they develop differently and have varying levels of learning disability. Some children with Down’s have few health problems, but certain medical complications – such as heart, gut, hearing, or thyroid conditions – are more common in people with Down’s.

The current NHS screening, which is offered to all pregnant women, gives an indication of the likelihood that a baby will have Down’s. If the foetus has the condition, there is an 85% to 90% chance that the existing test will pick it up, but about 2.5% of positive results are false and these babies don’t have Down’s.

At the moment, the next step is amniocentesis or CVS (chorionic villus sampling), the only diagnostic tests that can definitively show whether a baby has Down’s syndrome. Both of these tests are invasive – a needle is used to take a sample of the fluid surrounding the baby or cells from the placenta – and come with a risk of miscarriage. It’s a risk some women are not willing to take.

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Science Photo Library

Image caption

Amniocentesis is usually guided by ultrasound

This is where NIPT – the new non-invasive prenatal blood test – comes in. It could soon be offered to women as an extra, second step in the screening process. It is 99% accurate and carries no risk of miscarriage.

So the false positives will be identified earlier and fewer invasive tests carried out.

That sounds good – but some people, including Sally Phillips, worry it will mean that more foetuses with Down’s will be identified and aborted.

NIPT is already available in private clinics. One woman in her 20s who used it to find out that her baby had Down’s syndrome met up with Phillips to talk about her experience.

After a positive NIPT test she went ahead with an invasive test which confirmed the result.

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