FLICKR, MARCELO CANTARELA
Last month (October 17), genetic diagnostics manufacturer Sequenom released a new test that can detect whether a baby has Down syndrome from a sample of the mother’s blood. At the time, researchers predicted it would be the first of many such non-invasive fetal tests. Now, with the publication of a similar test for genetic deletions in unborn babies, that prediction appears to be coming true.
David Peters of the University of Pittsburgh Medical Center and his colleagues took blood samples from a pregnant woman whose older child had developmental delay and dysmorphic features. Doctors had previously determined that the older child inherited a 4.2-Megabase deletion on chromosome 12 from its father. Amniocentesis—a procedure involving the extraction of a small amount of fluid from the amniotic ...
