For some time it is known that is possible to find genetic material from the fetus on the mother’s blood plasma, during pregnancy and it was suggested that it could be possible to use this DNA to test the unborn child for possible genetic diseases in a non-invasive manner. At the moment this type of test is made only through amniocentesis which may in certain cases cause miscarriage. Following this studies Jay Schendure and his team managed to sequence DNA from the plasma of an 18 weeks pregnant woman, and by comparing the mother and father genetic material they could identify the fetal DNA sequences. They compared this data later with genetic tests made after the baby was born and determined that their data was more than 98% accurate. With this non-invasive method it could be possible in the future to determine possible genetic diseases that the child may carry after birth. Nevertheless the method still has a lot to improve on since the false positive rate obtained with this method is still extremely high, and could hint to possible diseases that in the end the child would not be a carrier of.
To what extend would such type of exam be acceptable: on one side certain diseases could be earlier detected if fatal for the child, but on the other side how would it prove to be for the parents when screening for late-onset diseases like Alzheimer or cardiovascular disease? Would the overwhelming amount of information prove to be “healthy” in the end?
Rute Andre
More information: