The Department of Chemical Pathology at CUHK has launched the ‘safeT21’ (sensitive analysis of fetal DNA for T21 screening) test as a clinical service for the non-invasive prenatal diagnosis of Down syndrome. It employs high throughput DNA sequencing technology to analyse millions of DNA fragments from a mother’s blood plasma to determine if there is an elevation in the amount of chromosome 21 DNA molecules which suggests the presence of a Down syndrome fetus.

Supported by the University Grants Committee Areas of Excellence Scheme and the Innovation and Technology Fund, the research team has successfully validated this test on a large cohort of samples. It has been introduced as a clinical service in Hong Kong and the US since the end of 2011. In Hong Kong, prenatal diagnostic units at CUHK, Hong Kong Sanatorium and Hospital, Union Hospital, Hong Kong Baptist Hospital and a number of obstetrics group practices have been using the test.

The test is based on a discovery Prof. Dennis Lo Yuk-ming, Li Ka Shing Professor of Medicine and Chairman of the Department, made in 1997 when he found that during pregnancy, the baby would release its DNA into the mother's blood plasma. This discovery has opened up new possibilities for non-invasive prenatal diagnosis.

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