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NHS to launch new Down's syndrome test to minimize miscarriage risk

New research shows Down's syndrome test cuts miscarriage risk

A blood test to see whether a child has Down’s syndrome could be is said to cut the risk of miscarriage.

Every year approximately 750 babies are born with Down's syndrome in the UK. It is a genetic condition that causes learning disabilities and distinct characteristic features. The majority of babies are diagnosed after birth as the current method for testing is quite dangerous.

One in every 200 women loses their baby after a procedure called amniocentesis where the fluid around a fetus is tested to see if there are any genetic disorders. But now trials are being conducted at Great Ormond Street Hospital for a new test that is significantly less dangerous.

NIPT or non invasive pre natal testing uses fragments of a developing fetus’s DNA to test for genetic abnormalities. The procedure is already used in almost one hundred countries around the world with the NHS thinking of introducing it to the UK.

Prof Lyn Chitty who is one of the heads of the trial says "It's a much more accurate test, so it's 99% accurate for Down's syndrome so it reduces the number of invasive tests significantly. In our study it reduced the number of invasive tests by more than 80%." The procedure has already been used by some mothers with one who wanted to remain anonymous saying. "We probably wouldn't have done invasive testing because there's a risk of miscarriage. I think that we were very lucky, it's enabled us to make an informed choice about what happens for the rest of our lives."

However there is still some way to go before the test can be fully introduced.

Dr Anne Mackie,The UK's National Screening Committee director of programs who are assessing the idea, said, "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."

MW/SKL


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