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NHS 'should offer blood test for Down's syndrome'

Published 26/10/2015

A far less invasive blood test can now determine an unborn baby's risk of developing Down's syndrome
A far less invasive blood test can now determine an unborn baby's risk of developing Down's syndrome

A blood test for Down's syndrome that could save the lives of unborn babies by reducing the need for invasive procedures should be offered on the NHS, according to new research.

A study, published in the Ultrasound in Obstetrics and Gynecology journal, found three in five pregnant women at high risk of carrying a baby with the condition opted for the blood screening rather than the intrusive tests.

The UK National Screening Committee (NSC), a panel of experts who advise the Government and health service, are expected to make a recommendation on the procedure , which is currently only offered privately.

Down's syndrome typically causes learning disability and characteristic physical features. All pregnant women are offered the chance to have a blood test to see if their unborn child is likely to have the condition, but currently only the invasive procedure is definitive.

The research suggests the cell-free DNA test, which samples foetal DNA in the mother's blood, is "highly reliable".

Adopting it in the NHS could see a small increase in the overall cost to the health service but also a major decrease in invasive tests, the researchers said.

Professor Kypros Nicolaides, director of the Harris Birthright Research Centre for Foetal Medicine at King's College Hospital, London, said: "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."

Women who are between 11 and 14 weeks are currently offered a blood test and ultrasound scan, known as the combined test. If they are too far along for this, they can still have the blood test between 14 and 20 weeks of pregnancy, but this is less accurate than the combined test.

If these show they have a risk greater than one in 150 of having a baby with Down's, they are then offered a choice of two invasive diagnostic tests to find out for certain - but both carry a one in 100 risk of miscarriage as they involve taking a sample from the womb with a needle.

The study involved 11,692 women with single pregnancies treated at King's College Hospital and the Medway Maritime Hospital, Kent. Some 395 women were found to be at high-risk for Down's syndrome.

A PHE spokesman said: " The UK NSC is currently consulting on introducing non-invasive prenatal testing (NIPT) to the existing fetal anomaly screening programme (FASP). A recommendation is expected to be made at the next UK NSC meeting in November."

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