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Circulating in the blood of pregnant women is the full genome of their unborn child, according to a study published online today (December 8) in Science Translational Medicine.
The results suggest that whole genome sequencing of fetuses may be possible without invasive procedures, and hold implications for the prenatal diagnoses of every genetic disease.
This study provides "a window into the fetal genome," said reproductive geneticist Diana W. Bianchi of the Mother Infant Research Institute at the Tufts University School of Medicine, who was not involved in the research. "In principle, that means that you could noninvasively prenatally diagnose anything because the sequence is going to be there."
In 1997, chemical pathologist Dennis Lo of The Chinese University of Hong Kong and his colleagues discovered the presence of fetal DNA in maternal blood. Scientists have since developed noninvasive procedures to prenatally diagnose certain diseases. Down syndrome, for example, results from an abnormal number of chromosomes, and can be detected by searching mother's blood for disproportionate amounts of DNA from different chromosomes. And genetic diseases inherited from the father may also...