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‘More accurate’ Down's test considered for NHS

Researchers are launching a study to see whether a more accurate test for Down’s syndrome should be offered to pregnant women on the NHS.

The study will be carried out at Great Ormond Street Hospital for Children in London and could result in a recommendation that women receive the test early in pregnancy.

Non-invasive prenatal testing (NIPT) can predict with 99% accuracy whether a baby has Down’s but is currently only available in private hospitals.

The blood test detects a baby’s genetic material and does not carry any risk of miscarriage like current invasive tests.

At present, testing for Down’s involves a combination of an ultrasound scan of the baby and a blood test for the mother.

Experts then estimate a woman’s chance of having a baby with Down’s.

Those found to be at higher risk can opt for invasive tests - amniocentesis or chorionic villus sampling.

Both carry a one in 100 risk of miscarriage.

The new NIPT also screens for the rare genetic conditions Edward’s syndrome and Patau syndrome.

Lyn Chitty, professor of genetics and foetal medicine at Great Ormond Street and lead investigator, said: “This study will look at whether NIPT can improve the safety and accuracy of screening for Down’s syndrome.

“At present, pregnant women who are shown to be at a higher risk of having a baby with Down’s syndrome are offered invasive follow-up tests which carry a risk of miscarriage.

“It is hoped that the introduction of NIPT will reduce the number of these invasive tests, while detecting more cases of Down’s syndrome than we currently do.

“We will also evaluate the views, opinions and experiences of women and health professionals.

“One of the very important aspects of our study is looking at ways to ensure women understand the test and the implications of the results so that they can choose whether or not to have it.”

The study, which starts this month, is funded by the National Institute for Health Research (NIHR) and has been developed in close collaboration with the UK National Screening Committee (UK NSC).

About 750 babies with Down’s syndrome are born in the UK each year.

Readers' comments (1)

  • More positive tests=more abortions and what about the 1 in 100 false results. I know personally women who have been tested, iinvasively and told the baby was Down's Syndrome but they went ahead with pregnancy and received very cold treatment from the staff. Their babies were born normal. Abnormality should NOT carry the death penalty, i.e baby torn from, what should be the safest place, it's mothers womb

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