妊娠滋养细胞疾病包括非肿瘤性的水泡状胎块和肿瘤性的绒癌、胎盘部位滋养细胞肿瘤和上皮样滋养细胞肿瘤。通过对发病机制的深入研究，陆续发现了一些新的疾病亚型，如家族性复发性水泡状胎块、双胎一胎为完全性水泡状胎块等；同时拓展了与临床诊治密切相关的分子诊断方法，如p57免疫组化染色和微卫星位点（short tandom repeat，STR）分子分型等，使病理诊断较既往的形态学诊断更为精确，并更能反映肿瘤发生的深层机制。文章结合最新的文献和世界卫生组织（WHO）女性生殖道肿瘤分类对该类疾病的病理特征和分子检测进行综述。

Gestational trophoblastic diseases include non-neoplastic hydatidiform mole（HM）and neoplastic lesions，including choriocarcinoma，placental site trophoblastic tumor and epithelioid trophoblastic tumor. With the development of researches in this field，some new disease subtypes have been discovered，such as familial recurrent HM and complete HM in a twin gestation. Some molecular diagnostic methods have also been developed，such as p57 immunohistochemical staining and short tandom repeat（STR）genotyping，making the pathological diagnosis more accurate than the previous morphology-based diagnosis，and more reflective of the process of carcinogenesis. In this review，based on the latest articles and WHO Classification of Female Genital Tumors，we summarized the pathological features and the molecular diagnostic methods of such diseases.