Molecular diagnosis of gestational trophoblastic disease

Gestational trophoblastic disease consists of well-defined diagnostic entities of proliferative disorder of the placenta, of which hydatidiform moles are common lesions. Even with available ancillary studies, including ploidy and immunohistochemistry analyses, histological diagnosis of molar pregnancies can be challenging in a significant percentage of the cases. Reliable diagnostic approaches with improved sensitivity and specificity are highly desirable. Recently, PCR-based short tandem repeat DNA genotyping has emerged as a powerful diagnostic measure in the workup of gestational trophoblastic disorders, particularly hydatidiform moles.