| Citation | Dennis Lo discovered the presence of cell-free fetal DNA, RNA and miRNA in the plasma of pregnant women, creating a paradigm shift in non-invasive 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 non-invasive fetal RHD genotyping and sex determination for sex-linked genetic disorders, are clinically used in many centres, replacing the corresponding conventional tests. |