Yuk-Ming Dennis Lo developed a non-invasive prenatal diagnosis method for detecting Down syndrome using maternal blood plasma.

in 2011, In 1997, Dr. Lo and his co-workers reported the presence of cell-free fetal DNA in the plasma of pregnant women. This discovery challenged the conventional wisdom regarding the role of the placenta as a barrier between the fetal and maternal circulations. The finding of circulating fetal DNA in maternal blood has also opened up new possibilities for noninvasive prenatal diagnosis. Over the past 15 years, the award-winning professor has elucidated the fundamental biological characteristics regarding circulating fetal DNA, including its concentrations, gestational variations, length distributions, and clearance patterns. Dr. Lo has demonstrated the use of such fetal-derived molecules for the prenatal diagnosis of sex-linked diseases, blood group genotyping, and a variety of monogenic disorders. To develop a noninvasive test for Down syndrome, Dr. Lo and his team developed an approach based on molecular counting and showed that massive parallel sequencing is an efficient method for detecting fetal chromosomal aneuploidies. In 2011, Dr. Lo and his team published the first large-scale validation of this sequencing-based technology for Down syndrome detection, with confirmations by numerous groups since then. This technology was quickly introduced into clinical practice.



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