A team of scientists from the University of Washington (USA) has managed to sequencethe nearly complete genome of an unborn baby from maternal blood and saliva from the father. This non-invasive technique does not harm the baby and will allow predicting possible diseases before the child is born.
Currently, prenatal genetic diagnoses are obtained from fetal cells that doctors obtain from amniotic fluid or the placenta. These tests involve the insertion of a needle or tube into the uterus and in 1 percent of cases can have negative consequences for the baby’s health.
In the late 1990s, a group of researchers found that 10 percent of the free DNA floating in the blood of a pregnant woman comes from the fetus, a discovery that made it possible to reconstruct some fragments of the baby’s genetic material from maternal blood. Now, a new study published inScience Translational Medicinedescribes a technique that makes it possible to sequence the almost complete genome of the future child by comparing the DNA of the mother’s blood with that of the father’s saliva. Scientists have successfully tested the method on a pregnant woman of18 and a half weeks. “This is the first time that the genome of a fetus has been sequenced with non-invasive techniques,” says Jay Shendure, one of the authors. The team sequenced the baby’s genome after birth and found their predictions to be 98 percent accurate.
Scientists have also looked for mutations in the genome that neither the father nor the mother carry, since they were generated during fertilization or embryonic development, and that are of special interest as they can help prevent unexpected diseases.
According to Schendure, it will take about 2 years to get the technique in place and begin to use it clinically, as he estimates that the study may cost about US $ 50,000 per child. However, the researcher believes that the data provided by the widespread use of this procedure will also lead to significant savings in subsequent medical expenses.
