Blood test for Down's syndrome detection hailed
New test on pregnant mothers returns fewer 'false positive' results
Friday 07 June 2013
A new non-invasive blood test can reliably detect whether or not an unborn baby has Down's syndrome during the first trimester of pregnancy, researchers said today.
The test, which analyses a baby's DNA present in its mother's blood, could be an improvement on current screening methods, according to the study.
Down's syndrome, and other chromosomal disorders characterised by an additional chromosome, is currently tested for between the 11th and 13th weeks of a pregnancy, using an ultrasound screen and a hormonal analysis of the pregnant woman's blood. The only definitive test involves chorionic villus sampling and amniocentesis but that carries a risk of miscarriage.
A study carried out at the Harris Birthright Centre at King's College London is the first to look at the feasibility of screening for the chromosomal disorders - known as trisomies - using foetal cell free DNA (cfDNA) from a pregnant woman's blood.
The tests, carried out at the 10-week stage on 1,005 pregnancies, were found to be more sensitive at detecting Down's syndrome and returned fewer "false positive" results than the combined tests usually carried out between the 11th and 13th weeks. The cfDNA test returned false positive rates of 0.1 per cent compared to 3.4 per cent for the combined tests.
The authors of the study, published in the Ultrasound in Obstetrics & Gynecology journal, said: "This study has shown that the main advantage of cfDNA testing, compared with the combined test, is the substantial reduction in false positive rate. Another major advantage of cfDNA testing is the reporting of results as very high or very low risk, which makes it easier for parents to decide in favour of or against invasive testing."
They also found that if cfDNA testing is carried out after a combined test at 11 to 13 weeks, 98 per cent cases of Down's syndrome could be detected. Invasive testing was then needed for confirmation in less than 0.5 per cent of cases.
The authors added: "Screening for trisomy 21 by cfDNA testing contingent on the results of an expanded combined test would retain the advantages of the current method of screening, but with a simultaneous major increase in detection rate and decrease in the rate of invasive testing."
The study involved mothers-to-be at King's College Hospital, London.
Life & Style blogs
The psychology of flirtation: how to know when someone's interested
YouTube star Loey Lane hits back at hateful comments about ‘fat girls in bikinis’ and how plus-size women promote obesity
Sugary drinks are killing 184,000 adults around the world every year, says study
The age of inactivity: How laziness is killing us
What do the emojis on Snapchat mean?
- 1 Michael Douglas regrets 'embarrassing' Catherine Zeta-Jones with oral sex comments
- 2 Tunisia hotel attack: Locals form 'human shield' to protect hotel from gunman Seifeddine Rezgui
- 3 Tunisian builder has been hailed a hero after knocking gunman to the ground with roof tiles
- 4 German ethics council calls for incest between siblings to be legalised by Government
- 5 E.L James's #AskELJames Twitter Q&A didn't go exactly as planned
£40000 - £60000 per annum: Recruitment Genius: The position will be home based...
£18000 - £24000 per annum: Recruitment Genius: If you are friendly, sociable, ...
£18000 - £22000 per annum: Recruitment Genius: This independent publishing and...
£500 - £600 per day: Recruitment Genius: A Senior Solution Architect is requir...