Missed target means only one in three hospitals offer pregnant women the best test, admits screening chief
Scores of healthy foetuses die every year because most hospitals do not give pregnant women what the NHS says is the best test for Down's syndrome.
In an interview with the Guardian, Dr Anne Mackie, the head of NHS screening programmes, estimated 146 babies a year in England who do not have any abnormality are lost as a result of efforts to detect children with the genetic condition.
The death rate is higher than it should be because only one in three hospitals offer mothers-to-be the so-called combined test for Down's syndrome, Mackie said. It is the most accurate of the four methods the NHS uses to calculate a woman's chances of having a child with Down's. If every hospital provided the combined test, the total of what she called "normal babies lost" would be around 90.
But she said 70% of hospitals in England still use tests that are more likely to give a "false positive" assessing women wrongly as at high risk. The combined test was introduced by the NHS 10 years ago and declared best method in 2003, yet it is still only available in parts of London, the south-east, south-west, and Midlands.
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. Mackie admitted the deadline would not be met. In the combined test, taken at between 10 and 14 weeks of pregnancy, a woman has a blood test and an ultrasound scan to measure the Nuchal Translucency (NT), a fluid pocket behind the baby's neck. The greater the NT, the greater the chance of Down's. Other methods involve either a blood test or a scan.
"Combined testing is the best. It produces the most accurate results. It, in effect, saves lives," said Mackie, the director of programmes at the UK National Screening Committee (UKNSC), which advises the government and the three devolved administrations on screening to detect conditions such as foetal abnormalities and cancer. The 146 foetuses have no neurological damage but die when their mothers miscarry as a direct result of having an amniocentesis test after being told that their babies are at high risk of having Down's syndrome. Amniocentesis involves a 1% risk of miscarriage, after a needle is inserted into the sac containing the baby's amniotic fluid.
Kypros Nicolaides, professor of foetal medicine at King's College London, and inventor of the combined test, said it was shameful that healthy babies were lost because of the NHS's inadequate screening. "Despite the combined test having been introduced, it is still only in 30% of hospitals; 70% have failed to embrace it. The result of that is that babies are dying completely unnecessarily," he said.
"It's scandalous and disgraceful because so many babies are dying that would not have, had the [combined] method been introduced earlier and everywhere, as it should have been. The NHS is failing 70% of women in Britain and causing the death of normal babies." That percentage difference meant 58 of the 146 healthy babies met avoidable deaths annually, he said.
If the combined test was offered universally, the number of women given a high risk rating of having a Down's child would be 3% of all those women screened rather than the current 5%, Mackie said. The NHS should have already achieved the 3% figure, but has taken two years to get it down from 5.9% to 5%.
A total of 366,000 women in England had one of the four tests last year. Of those, 18,300 were deemed high risk and 14,640 decided to then have an amniocentesis test. Those tests identified 1,112 babies with Down's and, in 92.8% of those cases, the woman had a termination.
About 60,000 people in the UK have Down's the biggest single cause of learning disabilities. Some 750 babies a year are born with the syndrome. Women who become mothers after 35, whose numbers are rising, are more likely to have a Down's child, especially after the age of 40.
Every pregnant woman in the UK is offered screening for Down's syndrome. In England 59% agree. The NHS recommends the combined test because it is the most accurate, gives quickest results and only needs one hospital visit. But the postcode lottery has helped sustain a thriving market of about 150 private clinics offering the combined test for up to £270.
Jane Fisher, the director of the charity Antenatal Results and Choice, said: "Clearly the better the test is, the fewer women will consider having an amniocentesis and putting their baby at risk. And therefore fewer normal babies will be lost."
The Guardian, 16th May 2009