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Breakthrough in Foetal Down's Syndrome Testing by CUHK Researchers |
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A revolutionary approach for the noninvasive prenatal testing of Down's syndrome developed by a team led by Prof. Dennis Lo Yuk-ming from the Li Ka Shing Institute of Health Sciences of The Chinese University Faculty of Medicine was reported in the latest issue of the top biomedical journal Nature Medicine. The research was supported by the Innovation and Technology Fund of the Hong Kong SAR Government and the Chair Professorship Scheme of the Li Ka Shing Foundation.
In 1997, Prof. Lo and his research team discovered for the first time in the world the presence of foetal DNA in the blood plasma of pregnant women. This discovery has opened up new possibilities of noninvasive prenatal diagnosis. However, the use of this approach for Down's syndrome testing has presented a major challenge to many international groups currently working in this field. Prof. Lo's team has now managed to achieve this previously elusive goal by detecting RNA molecules which are copied from a gene located on chromosome 21. Using a novel approach based on the measurement of the ratio of such RNA molecules copied from gene copies which the foetus has inherited from the father and mother, Prof. Lo and his team have achieved the noninvasive prenatal detection of Down's syndrome. In cases which can be analysed by this method, the sensitivity and specificity of the test are 90% and 96.5%, respectively. These figures represent the highest yet reported for a single test. While the current, still experimental test can only be used for a proportion of tested cases, this would theoretically half the number of invasive tests needed for Down's syndrome testing. It is anticipated that with further refinement, this test will be ready for routine utilization in the next few years.
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