A new mass spectrometry technique could pave the way for prenatal diagnosis by a simple and safe test on a pregnant woman's blood, according to an author of a paper describing the technique published in PNAS this week.

Y.M. Dennis Lo, professor of chemical pathology at the Chinese University of Hong Kong, developed the technique, which is based on single-allele base extension reactions and mass spectrometry. It allows for the reliable detection of fetal-specific alleles, including point mutations and single nucleotide polymorphisms, in maternal plasma, according to the authors. The result is that prenatal diagnosis of a genetic disease could be achieved by a simple blood test on the mother-to-be.

Lo's team built on the 1997 discovery that 3 to 5% of the DNA in the cell-free plasma of the mother comes from the fetus. Until that time, people attempting prenatal diagnosis on circulating fetal cells met with limited...

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