Non-invasive prenatal diagnosis

Non-invasive prenatal diagnosis

E.M.J. Boon, E Bakker

J.M.E. van den Oever (PhD student)

Current prenatal diagnosis relies mainly on invasive testing, using either chorionic villus sampling or amniocentesis. These tests carry a significant risk (1-2%) of fetal loss and it is therefore of major importance to develop alternative safer non-invasive diagnostic tests.  Using state of the art technologies, fetal markers will be identified and new non-invasive tests will be developed for the detection of paternally inherited mutations and trisomies.