A new non-invasive prenatal test that can detect Down’s syndrome could be widely used following successful trials, it has been revealed.
The test examines foetal DNA fragments in the mother’s blood and removes the risks of miscarriage that is associated with the usual highly invasive test of extracting amniotic fluid from the womb.
The annual conference of the European Society of Human Genetics heard that the Netherlands is the first country in the world to include the non-invasive pre-natal testing (NIPT) in a government supported, healthcare-funded trisomy syndrome screening programme.
The UK NHS has also indicated that it may introduce it after 2,500 women at medium or high risk of having a baby with Down’s underwent the test instead of the invasive procedure.
Professor Lyn Chitty, from the UCL Institute of Child Health and Great Ormond Street Hospital, London, told delegates: “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 cost of providing an NIPT service will depend on the cost of the test itself and how it is implemented. There will be significant savings resulting from a decrease in invasive testing whilst 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.”
Dr Erik Sistermans, head of the Genome Diagnostics department, VU Medical Centre Amsterdam, The Netherlands, who presented results from the TRIDENT (Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing), said in his study 3,306 high-risk pregnant women had undergone NIPT and 3,278 reports were issued.
He said although NIPT carried a much lower risk of miscarriage than invasive tests, it is slightly less accurate, because it only analyses DNA from the outer layers of the placenta.
“For this reason, a positive NIPT result should always be followed by an invasive test,” said Dr Sistermans.
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