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Protocol 5 - In this protocol, Norton reviews the pathophysiology of fetal aneuploidy and the wide range of tests for it. Included are perspectives on cell-free DNA testing, first-trimester combined screening, nuchal translucency (NT) sonography, and pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG), as well as quad marker screening in the second trimester in appropriate cases, and combined first- and second-trimester screening.