Gestational trophoblastic disease. Molecular and genetic studies

For a geneticist, the gestational trophoblastic diseases are a particularly interesting group of diseases. Hydatidiform moles were one of the first of a growing number of human disorders shown to result from the phenomenon of genomic imprinting, while gestational trophoblastic tumors are unusual neoplasms in that they derive not from the patients' own tissue but from a genetically distinct pregnancy. We review here the development of our understanding of the genetics of gestational trophoblastic disease and describe how modern molecular genetic techniques can be used to aid in the management of these conditions and further our understanding of their unusual biology.