In a remarkable medical feat, researchers used a blood sample from a pregnant woman to work out the entire genome of her unborn fetus. The technique, published in the journal Science Translational Medicine, could provide a safer and less invasive way to check a fetus for fatal genetic mutations. Currently, determining a fetus's genome requires either amniocentesis, in which a needle is inserted through the mother's abdomen into the amniotic sac, or chorionic villus sampling, in which a piece of placenta is removed. But both techniques carry a small risk to the baby, and are reserved for cases when there is an increased risk of genetic defects.
"The major advantage of the technique in this paper is that there's no risk of miscarriage," said Dr. Diana W. Bianchi, a reproductive geneticist at Tufts University who called the work a "technological tour de force." Amniocentesis and CVS testing carry about a 1% risk of miscarriage, she said. [LA Times]
