INNOVATIONS

Non-Invasive Prenatal Test for Down Syndrome Screening

Innovations & Impacts

Down syndrome is one of the most common chromosomal abnormality and genetic cause of mental retardation. The conventional invasive prenatal diagnostic tests such as amniocentesis and chorionic villus sampling often bring potential risks to the babies, with about a 0.5% to 1% chance of pregnancy miscarriage.



Discovered by Professor Dennis Yuk-ming LO, Li Ka Shing Professor of Medicine and Chairman of the Department of Chemical Pathology, CUHK, the non-invasive prenatal test based upon the analysis of babies’ DNA in their mothers’ blood has revolutionized the procedure of prenatal diagnosis that is safer and less stressful for pregnant women and their families. This scientific breakthrough paves the way for developing non-invasive prenatal diagnostic tests for multiple genetic diseases.



Since 2011, the patented technology has been introduced as a clinical service in Hong Kong and the United States, including prenatal diagnostic units at CUHK, Hong Kong Sanatorium and Hospital, Union Hospital, Hong Kong Baptist Hospital and a number of obstetrics group practices. The test has thus far been adopted in over 90 countries and used by more than 7 million of pregnant women every year.


From Research to Market

  • RESEARCH

  • ENTREPRENEURSHIP

  • IP & LICENSING

  • INNOHK

Dedicated to DNA research, Professor LO and his research group discovered the presence of fetal DNA in maternal plasma in 1997, which laid a foundation for their later discoveries.

In 2014, Xcelom Limited was founded by the inventors of non-invasive prenatal test. The company holds the exclusive license of NIPT and is the first provider of Non-invasive Prenatal Testing (NIPT) services in Hong Kong.

Stemmed from the research discoveries by Professor LO and his group, the non-invasive prenatal test named SafeT21 has been launched and trademarked for the screening of Down syndrome (trisomy 21) since late 2011. SafeT21 has been licensed to Sequenom (a biotechnology company in the U.S.) and Illumina (a life sciences company in the U.S.) which has sub-licensed the technology to over 30 other companies, generating remarkable income through commercialization of intellectual property rights (IPRs).

In response to Hong Kong Government’s major initiative on innovation and technology, the Centre for Novostics has been established under Health@InnoHK. Directed by Professor LO, the centre focuses on the development of innovative diagnostics, particularly around prenatal diagnosis and cancer diagnostics.

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