Mom's blood carries fetus genome

A complete copy of the fetal genome exists in the mother's blood, suggesting many prenatal diagnoses could be performed noninvasively

Jef Akst
Jef Akst

Jef Akst is managing editor of The Scientist, where she started as an intern in 2009 after receiving a master’s degree from Indiana University in April 2009 studying the mating behavior of seahorses.

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Dec 7, 2010
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.
Image: Wikimedia commons, Swangerschaft
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 linkurl:Diana W. Bianchi;http://sackler.tufts.edu/Academics/Degree-Programs/PhD-Programs/Faculty-Research-Pages/Diana-Bianchi.aspx 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 linkurl:Dennis Lo;http://www.cpy.cuhk.edu.hk/academic%20staff/Dennis.htm 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...
Y.M.D. Lo, "Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus," Science Trans Med, 2(61):61ra91, 2010.



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