Non-invasive Down's syndrome test could be made available on NHS
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Version 0 of 1. A non-invasive prenatal test for Down’s syndrome that reduces the risk of miscarriage and increases the detection of affected babies could be made available on the NHS. A trial at Great Ormond Street hospital of the test, which looks at fragments of foetal DNA in the mother’s blood, suggests that the procedure could be cost-effective. All pregnant women are currently offered an ultrasound scan and blood test to assess the likelihood that their child may have Down’s. If there is judged to be a greater than one-in-150 chance the baby will have the condition, an amniocentesis is offered. This procedure, where a needle is used to extract a small sample of amniotic fluid from the womb, is more risky, with one in 200 women who undergo the test losing their baby. Prof Lyn Chitty, who led the trial of 2,500 women, said: “There will be significant savings resulting from a decrease in invasive testing while increasing the detection of affected babies. The reduction in invasive testing also means there will be a reduction in miscarriages and loss of unaffected babies, which is much better for parents.” Chitty will present the findings at the European Society of Human Genetics conference on Saturday. The results will also be examined by the UK’s National Screening Committee later this month, which will then decide if the test should be available through the NHS. More than 2,500 women who were at high and medium risk of having a child with Down’s syndrome chose to take part in the research into non-invasive prenatal testing (NIPT). Chitty, of the UCL Institute of Child Health and Great Ormond Street Hospital, said the results were promising: “There was a very high uptake of testing and we saw invasive test numbers fall sharply. NIPT performed well in identifying problems, and women were very positive about it.” The test does not completely eliminate the need for an amniocentesis. Anyone who has a positive NIPT test result would then need to have an amniocentesis. Dr Anne Mackie, director of programmes at the National Screening Committee, told the BBC: “Before NIPT can be safely introduced, we must be sure it is accurate when used on large numbers of women and that there are quality-assessed pathways in place providing the care, support and information women need.” |