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'Safer' test for Down's syndrome may be offered to all pregnant women

When she's not writing, Claire Gillespie can most often be found wiping snotty noses, picking up Lego, taking photos of her cat or doing headstands.

Non-invasive prenatal test could replace risky amniocentesis for expectant mothers

From SheKnows UK

Pregnant women may no longer need to undergo risky, invasive tests to determine whether their baby has Down's syndrome, following the approval for a "safer" test on the NHS.

 

More: DNA testing for Down's syndrome could save babies' lives

The blood test is said to be 99 percent accurate and would replace the amniocentesis test, whereby a large needle is inserted into the stomach to extract a small sample of amniotic fluid from the womb. It carries a 1 percent risk of miscarriage and a one in 1,000 risk of serious infection.

Currently only expectant mothers in parts of London and the South West, or those deemed high risk, are offered the non-invasive prenatal test (NIPT) for free but Government experts are calling for it to be rolled out across the NHS, reported The Independent.

The NIPT method looks for foetal DNA in the woman's blood and delivers results in five days. It also detects Patau's and Edward's syndromes, which also occur when cells carry an extra chromosome. While most people with Down's syndrome have learning difficulties, developmental delays and some medical problems, many babies with Edward's and Patau's die before or shortly after birth.

Government advisers at the U.K. National Screening Committee have recommended that women with at least a one in 150 chance of their baby having Down's, Patau's or Edward's syndromes are given the new test.

Professor Alan Cameron, vice president of clinical quality for the Royal College of Obstetricians and Gynaecologists, said, "This test is the most accurate and safest way of detecting diseases that may have potentially serious consequences, both enhancing the information available to pregnant women and reducing unnecessary invasive procedures."

More: My son has Down's syndrome and I'm pro-choice

A 2015 study involving 2,500 high and medium risk women at Great Ormond Street Hospital showed that the test was safe and 99 percent accurate.

However Dr Anne Mackie, director of screening at Public Health England, voiced concerns about its use in real life.

"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 percent of the NIPTs carried out didn't give any result at all," she said.

The NIPT has also sparked a debate about abortion, because it could lead to more couples opting to terminate pregnancies without understanding how life with Down's syndrome has dramatically changed for many people.

For example, decades ago, it was considered reasonable not to treat children with Down's syndrome for health issues that sometimes accompany the condition, such as heart defects. Today medical ethicists say not treating children with Down's syndrome and other intellectual disabilities is unacceptable, reported the Wall Street Journal.

In 2013 North Dakota became the first U.S. state to prohibit abortions based on cases of "genetic abnormality or a potential for a genetic abnormality" and the Ohio Legislature is considering a bill that would make it illegal for doctors to perform an abortion if a woman cites her reason as a high risk of Down's syndrome.

In the U.K. Government ministers must now approve the National Screening Committee recommendations before they can be rolled out across the country.

More: Don't be afraid to invite the kids with special needs to that birthday party

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