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 screamed. I don’t believe 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 – research results came back positive. But Phillips – the actress and screenwriter best known for her roles in Miranda and Bridget Jones – observed 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 households, ” 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 their own families 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 children who every single day will ask me how my day was. He’s actually kind. He’s truly focused on other people. He’s really gifted emotionally. He’ll notice if people are upset when I won’t.”
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, intestine, 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 exam will pick it up, but about 2.5% of positive results are false and these newborns 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 newborn or cells from the placenta – and come with a danger of miscarriage. It’s a risk some females are not willing to take.