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Maternal blood test for Down's syndrome to be trialled in UK

4 November 2013
Appeared in BioNews 729

A new method for prenatal testing for Down's syndrome will be tried out at Great Ormond Street Hospital for Children (GOSH), London.

The maternal blood test will look for fragments of DNA from the placenta and the fetus in the mother's bloodstream through a simple blood test (reported in BioNews 708). The study will help determine whether this form of non-invasive prenatal testing (NIPT), which is already offered privately, should be offered to pregnant women in the NHS.

'At present, pregnant women who are shown to be at a higher risk of having a baby with Down's syndrome are offered invasive follow-up tests which carry a risk of miscarriage', said Lyn Chitty, professor of genetics and fetal medicine at GOSH and lead investigator. 'It is hoped that the introduction of NIPT will reduce the number of these invasive tests, while detecting more cases of Down's syndrome than we currently do'.

Down's syndrome occurs as a result of an extra copy of chromosome 21 and affects around one in every 1,000 babies born.

At present, the screening tests offered for Down's syndrome involve a combination of an ultrasound scan of the fetus and a blood test for the mother. Those found to be at higher risk are offered invasive follow-up tests, such as CVS (chorionic villus sampling) or amniocentesis, which both carry a low risk of miscarriage. The BBC reports that those who test positive using NIPT will then be offered an invasive procedure to confirm the result.

Dr Anne Mackie, from the UK National Screening Committee, added that 'early indications suggest that using NIPT to screen women who are found to be at a higher risk of having a baby with Down's syndrome would enable earlier and safer detection of the condition'.

The study, which is funded by the National Institute for Health Research and developed in collaboration with the UK National Screening Committee, will also look at ways to ensure women understand the test and the implications of the results so that they can choose whether or not to have it, explained Professor Chitty.

Women from maternity units in London and the South East will be recruited to the study, which will be launched in November this year. The test, believed to be around 99 percent accurate for Down's syndrome, will also be used to screen for the rare genetic conditions Edwards' syndrome and Patau's syndrome.

Down's pregnancy blood test on trial
BBC News |  1 November 2013
Great Ormond Street Hospital trials new Downs' Test
ITV News |  1 November 2013
Study investigates new prenatal screening test for Down’s Syndrome in the NHS
Great Ormond Street Hospital (press release) |  1 November 2013
22 June 2015 - by Jane Fisher 
There has been much recent media interest in non-invasive prenatal testing for Down's syndrome, and this coincides with deliberations by the UK National Screening Committee on its potential inclusion in the NHS Down's syndrome screening programme...
22 September 2014 - by Siobhan Chan 
Women are confident in and value a new non-invasive prenatal test for Down syndrome that is being trialled across a number of maternity clinics in the UK, a study reports...
11 August 2014 - by Dr Victoria Burchell 
Expectant mothers should be offered earlier screening for rare chromosomal conditions, the UK National Screening Committee (UK NSC) recommends...
10 March 2014 - by Dr Victoria Burchell 
A test using a simple blood sample from the expectant mother should soon be the primary screening method for Down's syndrome, according to a report from the Royal College of Obstetricians and Gynaecologists (RCOG)...
25 November 2013 - by Dr Felicity Boardman 
I was struck by a recent article that pushed to free Down's syndrome from inappropriate, negative language - that of 'disease', of 'risk' and of 'defect'...
22 July 2013 - by Dr Lucy Freem 
A method that 'switches off' entire chromosomes has been used in isolated cells to target the genetic defect behind Down's syndrome...
10 June 2013 - by James Brooks 
A test using only a blood sample taken from a pregnant woman is more reliable than current checks in indicating the likelihood of Down's syndrome, say researchers...
9 July 2012 - by Dr Lux Fatimathas 
US researchers have for the first time sequenced the genome of a fetus using only a blood sample from the mother. It is hoped this new form of non-invasive sampling could allow doctors to screen for a range of genetic diseases prenatally, with minimal risk to the fetus...
8 December 2008 - by Evelyn Harvey 
By Evelyn Harvey: A new method for early detection of genetic diseases in unborn babies using a simple blood test can detect the inherited condition beta-thalassemia, according to a study published in Proceedings of the National Academy of Sciences. Although the technique, which analyses cell free fetal DNA (cffDNA) present...
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