A complete fetal genome can be deduced from maternal DNA.
By Ewen Callaway
A developing fetus's entire genome lurks in its mother's blood, potentially offering prospective parents a non-invasive way of testing for any congenital disease.
Scientists in Hong Kong and the United States have mapped hundreds of thousands of DNA code variations spread across the genome of an unborn child in order to determine whether or not it would inherit a rare blood disorder.
The same approach could indicate, months before an infant is born, whether he or she has inherited cystic fibrosis, sickle-cell anemia and other diseases. It could also determine a child's complete genome sequence before birth.
"We're about a factor of 100 away from commercial capability, but that will change," says Charles Cantor, one of the co-authors of the study and chief scientific advisor at the genetic testing firm Sequenom, based in San Diego, California. The work is published online December 8 in Science Translational Medicine.
Building on the discovery that fragments of fetal DNA are present in a mother's plasma, the company and other scientists are working to develop prenatal DNA tests as an alternative to amniocentesis and other invasive ways of collecting DNA from a developing fetus that raise the risk of miscarriage