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Pregnant women urged to attend non-invasive Down’s Syndrome screening

Article By: Ellie Spanswick, News Editor

The UK National Screening Committee is urging pregnant women to attend a new non-invasive screening process to detect the presence of Down’s Syndrome.

The blood test is accurate, safe and could prevent thousands of invasive health procedures each year in the UK.

Current procedures see a needle inserted into the womb to retrieve a same of genetic tissue. The test uses a blood sample to analyse the patient's DNA and offers 99 per-cent accuracy.

Practice and standards professional advisor at The Royal College of Midwives (RCM), Mervi Jokinen, commented: “The RCM welcomes this new screening technology which provides non-invasive testing in pregnancy. It will support and improve the already established screening tests which women are familiar with anyway such as scans and blood tests provided in early pregnancy.”

“What is different is that the new blood test provides choice and reduces the need for diagnostic testing of foetal DNA through obtaining foetal (baby’s) cells in amniotic fluid for abnormalities (conditions like Down’s Syndrome). This is a procedure which carries a risk of miscarriage.”

The UK Government has recommended that all pregnant women are offered the chance to undergo this non-invasive test.

All pregnant women in England are offered a combined blood and ultrasound when they are ten to fourteen weeks pregnant to test for abnormalities. The test could be used to detect Down’s syndrome, Patau’s syndrome and Edward’s syndrome and could result in less women needing invasive tests which carry a one per cent risk of miscarriage.

Government advisors have said that women found to have an increased chance of having a baby with Down’s, Patau’s or Edward’s syndrome in the combined test, should be given the chance to have the new test.

Ms Jokinen continued: “Screening during pregnancy can be an anxious time for the parents when they decide on screening tests offered. The RCM works with UK Screening Committee to ensure that quality and availability of screening in pregnancy and postnatally is of highest standard with clear information and choice.

"Screening is always an individual choice for women and their partners and midwives will discuss that what information can or cannot be obtained from screening tests to support their decision-making.”

The new method of non-invasive prenatal testing (NIPT) uses knowledge of the developing foetus's DNA circulated in a mother’s blood, resulting in aspects of the baby’s genetic profile being sampled in their mother’s blood.

NIPT has proven to be highly accurate in predicting Down’s syndrome, while researchers at Great Ormond Street hospital published a study in 2015 that found the process to be 99 per cent accurate.

Director of screening at Public Health England, Dr Anne Mackie, said: “While the evidence suggests that NIPT is much more accurate in predicting Down’s syndrome than current tests, there are a number of questions about its use in a real-life screening programme that the evidence hasn’t yet been able to clarify.

“We don’t know how good the test is for other genetic conditions – Edward’s and Patau’s syndromes – that are currently part of the programme, and the evidence review also found that up to 13 per cent of the NIPTs carried out didn’t give any result at all.

“This will allow us to improve the information we can give women when they are offered the screening and help them make the right choice.”


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