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Down's blood test 'would cut risk of miscarriage' Down's blood test 'would cut risk of miscarriage'
(about 11 hours later)
A safer test for Down's syndrome that reduces the risk of miscarriage could soon be available on the NHS.A safer test for Down's syndrome that reduces the risk of miscarriage could soon be available on the NHS.
One in every 200 women loses her baby after an amniocentesis, in which the fluid around the developing foetus is tested for genetic disorders.One in every 200 women loses her baby after an amniocentesis, in which the fluid around the developing foetus is tested for genetic disorders.
A trial at Great Ormond Street Hospital of the new test - for fragments of foetal DNA in the mother's blood - suggested it could be cost-effective.A trial at Great Ormond Street Hospital of the new test - for fragments of foetal DNA in the mother's blood - suggested it could be cost-effective.
The NHS is to decide if it should be added to screening for Down's syndrome.The NHS is to decide if it should be added to screening for Down's syndrome.
About 750 babies are born with Down's syndrome in the UK each year.About 750 babies are born with Down's syndrome in the UK each year.
All pregnant women are offered testing for genetic disorders.All pregnant women are offered testing for genetic disorders.
Initially an ultrasound scan and chemicals in the mother's blood are used to assess the likelihood of the baby having Down's.Initially an ultrasound scan and chemicals in the mother's blood are used to assess the likelihood of the baby having Down's.
Anyone calculated to have up to a one-in-150 chance of a baby with Down's syndrome is offered an amniocentesis - in which a needle is used to extract a sample of amniotic fluid, which surrounds the foetus.Anyone calculated to have up to a one-in-150 chance of a baby with Down's syndrome is offered an amniocentesis - in which a needle is used to extract a sample of amniotic fluid, which surrounds the foetus.
But those women, of whom most would probably not have a baby with Down's, need to decide whether to have the risky test.But those women, of whom most would probably not have a baby with Down's, need to decide whether to have the risky test.
Safer bloodSafer blood
Fragments of the developing foetus's DNA naturally end up in the mother's bloodstream.Fragments of the developing foetus's DNA naturally end up in the mother's bloodstream.
"Non-invasive prenatal testing" - or NIPT - uses this DNA to test for major genetic abnormalities."Non-invasive prenatal testing" - or NIPT - uses this DNA to test for major genetic abnormalities.
It is already used in nearly 100 countries, but Great Ormond Street Hospital has assessed how it could be used on the NHS.It is already used in nearly 100 countries, but Great Ormond Street Hospital has assessed how it could be used on the NHS.
Prof Lyn Chitty, who led the trial, told the BBC: "It's a much more accurate test, so it's 99% accurate for Down's syndrome so it reduces the number of [invasive] tests significantly. Prof Lyn Chitty, who led the trial, told the BBC: "It's a much more accurate test, it's 99% accurate for Down's syndrome so it reduces the number of [invasive] tests significantly.
"In our study it reduced the number of invasive tests by more than 80%." "In our study it reduced the number of invasive tests by more than 80%, whilst actually picking up more cases of Down's syndrome."
However, it does not completely eliminate the need for an amniocentesis.However, it does not completely eliminate the need for an amniocentesis.
Anyone who has a positive NIPT test result would still need final confirmation with an amniocentesis.Anyone who has a positive NIPT test result would still need final confirmation with an amniocentesis.
Dr Lucy Jenkins, head of laboratory services at Great Ormond Street, called the test an important breakthrough.
"We know that there's a small amount of the baby's DNA actually circulating in the mother's bloodstream, so by taking just the blood sample from the mother we can detect the baby's DNA.
"What we're actually looking for is a slightly increased amount of chromosome 21, and it's an extra chromosome 21 that causes Down's syndrome."
One anonymous mother who took part in the trial said: "We probably wouldn't have done [invasive testing] because there's a risk of miscarriage.One anonymous mother who took part in the trial said: "We probably wouldn't have done [invasive testing] because there's a risk of miscarriage.
"I think that we were very lucky, it's enabled us to make an informed choice about what happens for the rest of our lives.""I think that we were very lucky, it's enabled us to make an informed choice about what happens for the rest of our lives."
Prof Chitty, who will present data from the trial involving 2,500 mothers at the European Society of Human Genetics conference, said the measure could be cost-effective. Shelley Thoupos, whose nine-year-old son Sam has Down's syndrome, said she was concerned that women were not well enough informed about having a Down's baby.
While the blood test is costly, it could also help the NHS save money by reducing the number of expensive amniocenteses. She said: "The fact that more women will be taking this test and probably not getting the right information that they should have about Down's syndrome, and about the life that children and adults with Down's syndrome lead, is a negative thing.
She also rejected the idea that the extra testing would lead to more abortions. "They're not able to make an informed choice, an informed decision about having a child due to a very negative view from a lot of medical professionals."
Prof Chitty said the trial showed that many women who would have refused an amniocentesis chose to have the safer test to help them prepare. She said that during her pregnancy - after having an amniocentesis test - she had had signs of early labour at 23 weeks, which meant Sam's life was in danger.
"We did have to look at the fact that we could lose him, which was devastating for us.
"To have gone through everything we had gone through, to realising we were having this child, to having decided together 'that's it, we're doing this', and to then think we could lose him over having done this [amniocentesis] test, was devastating."
Cost saving
Prof Chitty, who will present data from the trial involving 2,500 mothers at the European Society of Human Genetics conference.
She said that while the blood test is costly, it could help the NHS save money by reducing the number of expensive amniocenteses.
Prof Chitty said the trial showed many women who would have refused an amniocentesis chose to have the safer test to help them prepare.
She also rejected the idea the extra testing would lead to more abortions.
The UK's National Screening Committee will begin assessing the idea this month.The UK's National Screening Committee will begin assessing the idea this month.
Dr Anne Mackie, its director of programmes, said: "Before NIPT can be safely introduced we must be sure it is accurate when used on large numbers of women and that there are quality-assessed pathways in place providing the care, support and information women need."Dr Anne Mackie, its director of programmes, said: "Before NIPT can be safely introduced we must be sure it is accurate when used on large numbers of women and that there are quality-assessed pathways in place providing the care, support and information women need."
England, Scotland, Wales and Northern Ireland would each make their own decision on whether to make any recommendations.England, Scotland, Wales and Northern Ireland would each make their own decision on whether to make any recommendations.