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
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 success, ...
