PMWC 2015 PIONEER AWARD: Discovered Presence of Fetal DNA in Maternal Plasma

M.D., Ph.D, Director, Li Ka Shing Inst. of HS, Chinese Uni. of HK

In 1997, Dr. Dennis Lo and his co-workers reported the presence of cell-free fetal DNA in the plasma of pregnant women. The finding of circulating fetal DNA in maternal blood has opened up new possibilities for noninvasive prenatal diagnosis. He elucidated the fundamental characteristics of such molecules, developed the technologies for their analysis, conceptualised their use and brought non-invasive prenatal diagnosis to a reality. He achieved the non-invasive prenatal diagnosis of trisomy 21, which has been hailed as the holy grail in prenatal diagnosis. Within a few years, tests, such as sex determination for sex-linked genetic disorders, are clinically used in many centers, replacing the corresponding conventional tests.


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