Prenatal Genetic Diagnosis: A Guide to Screening and Diagnostic Testing Options

Prenatal genetic diagnosis consists of fetal risk assessment utilizing screening options such as carrier screening for autosomal recessive conditions, fetal aneuploidy screening with serum-based, ultrasound-based, and cell-free DNA-based assessments, as well as diagnostic testing of direct fetal tissue prior to pregnancy with preimplantation genetic testing of embryos and during pregnancy with chorionic villus sampling of placental tissue and amniocentesis of fetal amniotic fluid. Utilizing these screening and testing options both prior to and during pregnancy can impact pregnancy decisions and management by identifying fetuses that may require specific postnatal management plans in the newborn period.