Testing Fetal DNA

When Charles Cantor and Dennis Lo flew to Pattaya, Thailand in late 2002 to attend a conference, neither man knew they would end up collaborating on a blood test that could one day reduce reliance on invasive prenatal diagnostic methods such as amniocentesis and chorionic villus sampling (CVS)

Written byJane Parry
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Courtesy of Sam Shum, Rossa Chui, and Dennis Lo

When Charles Cantor and Dennis Lo flew to Pattaya, Thailand in late 2002 to attend a conference, neither man knew they would end up collaborating on a blood test that could one day reduce reliance on invasive prenatal diagnostic methods such as amniocentesis and chorionic villus sampling (CVS)

Cantor, chief scientific officer at Sequenom in San Diego, delivered a presentation on the company's MassARRAY system, which uses mass spectrometry and analyte specific reagents (ASRs) to measure disease biomarkers. Sequenom was looking for potential diagnostic applications of the technology.

Lo, professor of chemical pathology at the Chinese University of Hong Kong (CUHK), had discovered that fetal DNA makes up about 5% of the cell-free DNA in maternal plasma. In contrast, fetal cells are present in about one in a million cells. Lo needed a technology that would minimize interference from the large ...

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