Down's Syndrome DNA-Test Less-Invasive, Detects Developmental Disorder

New findings published in the journal Ultrasound in Obstetrics and Gynaecology look at how a DNA test for Down's Syndrome could reduce the need for potentially invasive tests that look for the developmental disorder marked by a full or partial extra copy of chromosome 21.

The study results suggest that this screening could be combined to test all pregnant women and that based on the results, a select group would benefit from the cell-free DNA test. Furthermore, researchers also found that the DNA test can be easily incorporated into routine clinical care.

During the study, researchers looked at 11,692 women with single pregnancies treated at the National Health Services' hospitals, King's College Hospital, London, and the Medway Maritime Hospital, Kent. From the sample, 395 women were found to be at high-risk for having children with Down's syndrome.

Currently, health officials assess risk based on a number of factors, including age, hormone markers in blood and the results of a ‘nuchal scan,' which examines fluid collection at the unborn baby's neck.

While this new cell-free DNA test is much less-invasive while still remaining highly reliable, it is only privately available at this time and quite costly.

"Our research puts the case for offering the cell-free DNA test on the NHS," said Professor Kypros Nicolaides, Director of the Harris Birthright Research Centre for Fetal Medicine at King's College Hospital, and Professor of Fetal Medicine at King's College London, in a news release. "This would improve the performance of screening, and reduce the number of unnecessary invasive tests and miscarriages."

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