Abstract

Introduction: Hydatidiform mole is an abnormal pregnancy characterized by hyper-proliferation of trophoblastic cells (both cytotrophoblast and syncytiotrophoblast). If the proliferation phenomenon not well controlled, e.g. due to poor medical health care system, mole can become invasive and lead to gestational choriocarcinomas. Gestational choriocarcinoma by strong metastatic potentiality, as one of the most aggressive, malignant form of gestational trophoblastic disease, could be spread through directly vascular and the middle layer of the uterine wall (Myometrium‎) and would involve distant sites such as the lungs, spleen, intestines, kidney, and liver. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. In recurrent form, the gestational choriocarcinoma occurrence risk increased up to a 100-fold. Therefore, early onset identify of susceptible women to recurrent molar pregnancy is clinical importance because of the increased risk of developing neoplasia. Due to the role of maternal homozygous and compound heterozygous recessive gene, mutations have been reported in hydatidiform mole occurrence, women screening can be improved by molecular genotyping methods.