Introduction/Background Gestational trophoblastic disease (GTD) was first described by Hippocrates around 400 BCE as ‘dropsy of the uterus’. It is a rare disease that comprises a heterogeneous group of placental lesions arising from abnormal proliferation of the trophoblast. This study aims to evaluate demographic and clinical characteristics and survival outcomes of women diagnosed with GTD.

Methodology This is a cross-sectional retrospective study of patients diagnosed with GTD between January 2011 and December 2021 in two Portuguese institutions. Clinicopathological data, β-hCG levels, treatments and survival data were extracted from medical records.

Results A total of 59 women were diagnosed with GTD, with a median age of 33 years old (range 13–49). Forty patients had a previous pregnancy before diagnosis. 54 patients underwent uterine evacuation and 5 underwent hysterectomy. After histopathological examination, 48 cases were complete molar pregnancy, 9 were partial moles, 1 placental site trophoblastic tumour and 1 choriocarcinoma. 58 patients had FIGO stage I disease and 1 had FIGO stage III. We found 50 patients with a low-risk (FIGO prognostic score ≤4), 7 in the intermediate group (score of 5 or 6) and 2 with high-risk (score ≥7). 17 patients underwent adjuvant weekly intramuscular methotrexate (MTX) with a median of 12 cycles. 7 patients were treated with actinomycin D as second-line therapy due to MTX resistance. The 2 patients with FIGO prognostic score of high-risk underwent first-line chemotherapy with EMA-CO. Both 5-years progression free survival and 5-years overall survival were 97%, with only one death; the choriocarcinoma patient had a fatal pulmonary tumor embolism before starting chemotherapy.

Conclusion GTD is a rare disease, usually curable with chemotherapy, but high-risk disease can be very aggressive with worse prognosis. Despite being a rare disease, physicians’ awareness is critical. Early diagnosis, correct risk stratification and prompt treatment are the main goals for cure.