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Offer screening in pregnancy for chromosome disorders earlier, say experts

11 August 2014
Appeared in BioNews 766

Expectant mothers should be offered earlier screening for rare chromosomal conditions, the UK National Screening Committee (UK NSC) recommends.

Edwards' syndrome and Patau syndrome are the two most common forms of trisomy after Down's syndrome. Although together these conditions affect only around two in every 10,000 live births in the UK they are a frequent cause of miscarriage. Where pregnancies are carried to term, only a small proportion of children will survive beyond early infancy and all will have severe developmental problems.

Edwards' and Patau's syndromes are currently usually detected during a scan at around 20 weeks, but the UK NSC has now recommended that women be offered a test earlier, during the first trimester.

Dr Anne Mackie, director of programmes at the UK NSC, said that the recommendation 'would give women access to support and enable them to make important choices at an earlier stage of their pregnancy'.

The new test could be included as part of the existing screening programme for Down's syndrome, which includes a blood test in the first trimester and an ultrasound at around 12 weeks to assess the amount of fluid at the back of the fetus' neck. If either Edwards' or Patau's syndrome are suspected, this could then be followed up with more invasive tests such as amniocentesis, to confirm the diagnosis.

According to BBC News, the recommendations have already received ministerial approval in England and are also likely to be adopted in the rest of the UK.

Earlier pregnancy screening move for genetic problems
BBC News |  4 August 2014
Earlier screening for serious abnormalities in pregnancy
Gov.uk (press release) |  4 August 2014
Earlier tests for pregnant women
Yahoo! News |  4 August 2014
Pregnant women will be offered screening tests earlier
Daily Telegraph |  5 August 2014
UK plans to expand pregnancy screening for genetic disorders
PHG Foundation |  6 August 2014
7 November 2016 - by Dr Rachel Huddart 
A more accurate and safer prenatal test for Down's, Edwards' and Patau's syndromes is to be offered by the NHS from 2018, it has been announced...
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...
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)...
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...
10 December 2012 - by Dr Lux Fatimathas 
More sensitive prenatal testing of fetal DNA could improve the detection of genetic diseases, studies find...
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