Genetics and Genomics of Gestational Trophoblastic Disease

This article focuses on hydatidiform mole (HM), which is the most common form of gestational trophoblastic disease and the most studied at the genomic and genetic levels. We summarize current laboratory methods to diagnose HM, discuss their limitations and advantages, and share the lessons we have learned. We also provide an overview of the history of recurrent HM, their known genetic etiologies, and the mechanisms of their formation.