Advances In Prenatal Molecular Diagnostics - 2018

Cell-free DNA-based screening and the potential for cell-based screening has upended the field of prenatal testing. While cell-free tests are being used more and more in the clinic, cell-based tests are still on the cusp of commercialization. With both types of tests still in need of improvements in order to truly replace invasive tests, the near-term challenge is determining where the field heads once both options are viable. This meeting will discuss updated comparisons and examine the implementation, insurance, and clinical challenges associated with each test.

Furthermore, with advances in DNA amplification and sequencing comes greater opportunity to garner more information. Much discussion needs to take place in regards to the role of preconception counseling, expanded carrier screening, whole genome versus whole exome sequencing, and the effect these and any prenatal testing may have on the decision to continue a pregnancy or perform fetal therapy.