Advances in Prenatal Genetic Testing: Current Options, Benefits, and Limitations

Abstract 

Options in prenatal testing continue to expand as technology advances. These options allow for clarification of many diagnoses, which can assist in prenatal planning from medical and family perspectives. They can provide additional information to families before the birth of their child regarding diagnosis, underlying etiology, treatment options, short-term outcomes, and long-term outcomes. Our objective was to provide an overview of the available prenatal testing options while outlining the strengths and limitations of these options. In addition, we describe the additional testing that may be recommended in the neonatal period for further clarification of prenatal testing and diagnoses.

Keywords: Prenatal, Genetic, Testing, Fetal