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NHS screening head admits to accuracy failure of Down’s syndrome screening

Posted Jun 12 2009 6:43pm

The head of the UK’s screening programmes has admitted that the NHS has failed to roll-out more accurate screening tests for Down’s syndrome and that as a result a number of healthy foetuses are unnecessarily lost due to miscarriage triggered by diagnostic testing.

Dr Anne Mackie, the director of programmes at the UK National Screening Committee (UKNSC), told The Guardian that an “estimated 146 babies a year in England who do not have any abnormality are lost as a result” of attempting to detect Down’s syndrome.

That death rate is higher than it should be as only 30% of hospitals offer the combined test for Down’s syndrome, despite it being “introduced by the NHS 10 years ago and declared best method in 2003″.

As previously covered, last year Down syndrome Education International estimated that current screening practice in England and Wales reduces annual live births of babies with Down’s syndrome by around 660 and leads to the losses of 400 babies without Down’s syndrome.

“Mackie blamed the problem on a lack of sonographers, who perform ultrasound scans. The reason is not money but a high burnout rate and the fact that sonographers are not recognised as a separate profession – many start as radiographers – making it an unappealing career option.

The NHS was meant to be ready to offer every woman the combined test by the end of March 2010.”

Kypros Nicolaides, professor of foetal medicine at King’s College London, and inventor of the combined test described the NHS’s failure to roll-out the test nationwide as “scandalous and disgraceful” and stated that “the NHS is failing 70% of women in Britain and causing the death of normal babies.”

While the focus on the unnecessary deaths of healthy foetuses is understandable, I would also suggest that the inaccuracy of the testing process also results in the unnecessary deaths of a number of foetuses with Down’s syndrome – either through miscarriage or through confusion and fear resulting in parents that might otherwise be capable of raising a child with Down’s syndrome choosing to terminate.

The problems caused by the lack of accuracy are highlighted by a follow-up story in The Guardian:

“The difficulty for women and their partners is that the statistical chance of Down’s, for example one in 200, is very comparable to the quoted miscarriage risk of an amniocentesis test, which is between 0.5% and 1%,” explained Jane Fisher of the charity Antenatal Results and Choices.

Sally Hill, a sonographer in Surrey who works both privately and for the NHS, added:

“The consequences of inaccurate Down’s screening are serious and are being ignored. We should be encouraging high standards rather than accepting minimum standards. [There is] considerable variation in different risk calculation software available and this can mean the difference between being deemed high risk or low risk, which is unacceptable.”

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