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Early Down's test 'more sensitive' | Early Down's test 'more sensitive' |
(about 5 hours later) | |
A more accurate test for Down's syndrome which can also be given earlier in pregnancy than current checks has been developed, say experts. | A more accurate test for Down's syndrome which can also be given earlier in pregnancy than current checks has been developed, say experts. |
A study of 1,000 pregnancies found the test of foetal DNA in maternal blood can show a baby is "almost certainly" affected or unaffected by Down's. | A study of 1,000 pregnancies found the test of foetal DNA in maternal blood can show a baby is "almost certainly" affected or unaffected by Down's. |
The King's College London team behind it said it could help women decide if they needed further, invasive tests. | The King's College London team behind it said it could help women decide if they needed further, invasive tests. |
The Down's Syndrome Association said the new test was not "imminent". | The Down's Syndrome Association said the new test was not "imminent". |
Around 750 babies are born with Down's syndrome each year in the UK. | Around 750 babies are born with Down's syndrome each year in the UK. |
The condition is caused by the presence of an extra copy of chromosome 21, which occurs by chance. | The condition is caused by the presence of an extra copy of chromosome 21, which occurs by chance. |
'Nearly diagnostic' | 'Nearly diagnostic' |
Women are currently tested between weeks 11 and 13 of pregnancy. They have an ultrasound, during which a pocket of fluid at the back of a baby's neck - the nuchal fold - is measured. Babies with Down's syndrome tend to have more fluid than normal. | Women are currently tested between weeks 11 and 13 of pregnancy. They have an ultrasound, during which a pocket of fluid at the back of a baby's neck - the nuchal fold - is measured. Babies with Down's syndrome tend to have more fluid than normal. |
Women also have a blood test to check for abnormal levels of certain proteins and hormones. | Women also have a blood test to check for abnormal levels of certain proteins and hormones. |
They are then given an estimation of the chances of their child having Down's - which also takes their age into account - such as one in 150 or one in 700. | They are then given an estimation of the chances of their child having Down's - which also takes their age into account - such as one in 150 or one in 700. |
Each of the three elements is only an indication. | Each of the three elements is only an indication. |
But based on the result, those with a higher estimated risk can have one of two invasive and potentially risky tests. | But based on the result, those with a higher estimated risk can have one of two invasive and potentially risky tests. |
Chorionic villus sampling (CVS) involves testing a small sample of the placenta, while an amniocentesis tests the amniotic fluid around the baby. | Chorionic villus sampling (CVS) involves testing a small sample of the placenta, while an amniocentesis tests the amniotic fluid around the baby. |
Both tests carry a one in 100 risk of miscarriage. | Both tests carry a one in 100 risk of miscarriage. |
Prof Kypros Nicolaides, who is leading the research and also developed the nuchal fold test, says the foetal DNA (cfDNA) test is much more definitive. | Prof Kypros Nicolaides, who is leading the research and also developed the nuchal fold test, says the foetal DNA (cfDNA) test is much more definitive. |
The test shows there is either more than a 99% chance, or less than one in 10,000 that their baby has Down's syndrome. | The test shows there is either more than a 99% chance, or less than one in 10,000 that their baby has Down's syndrome. |
The research showing it is more sensitive, and less likely to offer a false-positive result, is published in Ultrasound in Obstetrics and Gynaecology. | The research showing it is more sensitive, and less likely to offer a false-positive result, is published in Ultrasound in Obstetrics and Gynaecology. |
Prof Nicolaides said: "This test is nearly diagnostic. It tells you almost certainly your baby has Down's or almost certainly it does not. | Prof Nicolaides said: "This test is nearly diagnostic. It tells you almost certainly your baby has Down's or almost certainly it does not. |
"From a woman's perspective, that is a much more clear message about what to do next." | "From a woman's perspective, that is a much more clear message about what to do next." |
Between 3% and 5% of pregnant women currently undergo invasive testing. | Between 3% and 5% of pregnant women currently undergo invasive testing. |
The foetal DNA test has seen a rate of less than 0.5%. | |
'Lip-service' | 'Lip-service' |
Next month, the professor and his team are to begin a two-year prospective study of 20,000 women in NHS hospitals to further assess the test. | Next month, the professor and his team are to begin a two-year prospective study of 20,000 women in NHS hospitals to further assess the test. |
However it currently costs around £400, so Prof Nicolaides says - if the cost does not fall - it may be that the NHS could use the conventional test (which costs £180) for all pregnant women, then the foetal DNA test for those at a higher risk - perhaps 10-15% of all pregnancies. | However it currently costs around £400, so Prof Nicolaides says - if the cost does not fall - it may be that the NHS could use the conventional test (which costs £180) for all pregnant women, then the foetal DNA test for those at a higher risk - perhaps 10-15% of all pregnancies. |
He said his aim was to offer women clearer information to allow them to make choices about how they should proceed. | He said his aim was to offer women clearer information to allow them to make choices about how they should proceed. |
"It has been trendy to say we must involve patients in the decision-making process, but it has often been something we only pay lip-service to. | "It has been trendy to say we must involve patients in the decision-making process, but it has often been something we only pay lip-service to. |
"If the risk is say one in 250, how do they decide? When they have much more clarity, a clearer result, it is made easier." | "If the risk is say one in 250, how do they decide? When they have much more clarity, a clearer result, it is made easier." |
Carol Boys, chief executive of the Down's Syndrome Association (DSA) said: "The latest results from Prof Nicolaides and his team at King's College show that the use of an early non-invasive blood test that could be used throughout the national screening programme is still a fair way off. | Carol Boys, chief executive of the Down's Syndrome Association (DSA) said: "The latest results from Prof Nicolaides and his team at King's College show that the use of an early non-invasive blood test that could be used throughout the national screening programme is still a fair way off. |
"The DSA considers it far more important at this point to focus on providing relevant, accurate and up-to-date information about Down's syndrome, delivered by midwives and associated health professionals, who have received our targeted training prior to any screening test. | "The DSA considers it far more important at this point to focus on providing relevant, accurate and up-to-date information about Down's syndrome, delivered by midwives and associated health professionals, who have received our targeted training prior to any screening test. |
"We are currently seeking full funding to ensure that our Tell it Right, Start it Right training can be rolled out nationally in readiness for the time when the non-invasive diagnostic test in early pregnancy is a reality in the UK. | "We are currently seeking full funding to ensure that our Tell it Right, Start it Right training can be rolled out nationally in readiness for the time when the non-invasive diagnostic test in early pregnancy is a reality in the UK. |
"We do not believe that this is imminent." | "We do not believe that this is imminent." |