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Medway Maritime Hospital at forefront of new test for Down’s syndrome

00:01, 03 November 2015

A new breakthrough test, trialled at Medway Maritime Hospital, is set to be offered to mums-to-be on the NHS to find out whether their baby has Down’s syndrome.

The current tests available to women at high risk of carrying a baby with the condition have a risk of miscarriage.

Women who are between 11 and 14 weeks pregnant are offered a blood test and ultrasound scan, known as the combined test.

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A pregnant woman. Library picture
A pregnant woman. Library picture

If these show they have a risk greater than one in 150 of having a baby with Down’s they are then given a choice of two diagnostic tests. Both these tests carry a one in 100 risk of miscarriage as they involve taking a sample from the women’s womb with a needle.

Currently, a definitive diagnosis can only be given after this process, which is known as amniocentesis.

The National Screening Committee (NSC) is expected to recommend that the new DNA test, currently only available privately, should be made available on the NHS.

Research suggests the cell-free DNA test, which samples foetal DNA in the mother’s blood, is “highly reliable.”

Offering the cell-free DNA test on the NHS would improve the performance of screening, and reduce the number of unnecessary invasive tests and miscarriages, experts believe.

The trial involved 11,692 pregnant women at Medway Maritime and at King’s College Hospital in London. Some 395 women were found to be at high-risk for Down’s syndrome.

Samuel Ralph, 9, who was born with Downs Syndrome
Samuel Ralph, 9, who was born with Downs Syndrome

Three in five pregnant of those at high risk chose to have the blood screening rather than the present test.

Prof Kypros Nicolaides, from King’s, led the research. He said: “We showed it can be integrated into standard NHS care and that women do accept it.”

“Our research puts the case for offering the cell-free DNA test on the NHS.

“This would improve the performance of screening, and reduce the number of unnecessary invasive tests and miscarriages.”

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