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Experts back maternal blood test for Down's syndrome

10 March 2014
Appeared in BioNews 745

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).

The test, which is already available privately, has been described as 99 percent accurate and carries no risk to mother or child.

Speaking to the Telegraph, Professor Peter Soothill, consultant in fetal medicine at University Hospitals Bristol NHS Foundation Trust and a co-author of the report, described it as 'the most exciting development in pregnancy care in many years'.

In the UK about 750 babies a year are born with Down's syndrome, which is caused by an extra copy of chromosome 21.

Current screening for Down's syndrome takes the form of an ultrasound and a maternal blood test (the 'combined test') which are used to estimate risk of the condition. In at-risk cases, this can be followed by diagnostic tests which require the insertion of a needle into the uterus, a process which carries a one percent risk of miscarriage.

The new test, referred to as non-invasive prenatal testing (NIPT), relies on fragments of DNA from the fetus which can be detected in the mother's blood.

The test can also detect other chromosomal abnormalities, such as the rare conditions Edwards' syndrome and Patau's syndrome.

The report states that the test could be included either as an alternative to invasive diagnostic tests in at-risk cases, as a part of the combined test, or as a primary screen, replacing the combined test. In both the USA and Canada NIPT has so far been recommended only in at-risk cases, with Canadian guidance adding that a positive test should be confirmed by amniocentesis before termination of the pregnancy.

The UK National Screening Committee is currently trialling the technology at Great Ormond Street Hospital for Children in London (reported in BioNews 729), and is expected to make a decision next year on whether to offer the test on the NHS.

The chair of the RCOG's scientific advisory committee, Dr Sadaf Ghaem-Maghami, said the new technology's potential was 'exciting' but stressed the continued importance of counselling for prospective parents.

He said: 'It is important that there are resources and training for health professionals offering this testing and an emphasis on discussions with the pregnant woman before the test about the implications of the results'.

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...
13 April 2015 - by Kirsty Oswald 
Research shows that a new prenatal blood test for Down's syndrome outperforms current methods of screening...
13 April 2015 - by Dr Ainsley Newson and Associate Professor Stacy Carter 
In March, Sequenom revealed that its MaterniT21 non-invasive prenatal test has detected potential cancer in some pregnant women. This is a good thing, right? Women in the prime of their lives receiving information that may catch a cancer early. But, we suggest, it is not this simple. ...
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...
4 November 2013 - by María Victoria Rivas Llanos 
A new method for prenatal testing for Down's syndrome will be tried out at Great Ormond Street Hospital for Children (GOSH), London....
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...
14 January 2013 - by Dr Daniel Grimes 
US biotech company Verinata Health has reported sequencing fetal DNA taken from pregnant women's blood to test for genetic abnormalities...
26 November 2012 - by Dr Lux Fatimathas 
Non-invasive pre-natal screening for certain abnormalities in fetal chromosomes should be offered to at-risks mothers, recommends the American College of Obstetricians and Gynecologists...
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