Gestational trophoblastic disease

Gestational trophoblastic disease (GTD) encompasses a group of rare conditions in which abnormal trophoblastic tissue (the cells that normally form the placenta) grows inside the uterus following conception. GTD includes benign forms such as complete and partial hydatidiform moles, as well as malignant forms collectively termed gestational trophoblastic neoplasia (GTN), which include invasive mole, choriocarcinoma, placental site trophoblastic tumor (PSTT), and epithelioid trophoblastic tumor (ETT). These conditions primarily affect the reproductive system but malignant forms can metastasize to the lungs, liver, brain, and other organs. Key symptoms include abnormal vaginal bleeding during or after pregnancy, a uterus that is larger or smaller than expected for gestational age, markedly elevated levels of human chorionic gonadotropin (hCG), hyperemesis (severe nausea and vomiting), and in some cases, early-onset preeclampsia. Complete hydatidiform moles result from fertilization of an empty ovum and contain no fetal tissue, while partial moles typically arise from dispermic fertilization and may contain some fetal structures. Risk factors include extremes of maternal age (under 20 or over 35), prior molar pregnancy, and certain dietary deficiencies. Treatment depends on the type and stage of disease. Hydatidiform moles are managed by suction evacuation of the uterus followed by serial hCG monitoring to detect persistent or malignant disease. Gestational trophoblastic neoplasia is highly responsive to chemotherapy, with cure rates exceeding 90% even in metastatic disease. Low-risk GTN is typically treated with single-agent methotrexate or actinomycin D, while high-risk GTN requires multi-agent chemotherapy regimens such as EMA-CO (etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine). Surgery and radiation therapy may be employed in select cases. Most forms of GTD are sporadic, though rare familial cases of recurrent hydatidiform mole have been linked to biallelic mutations in NLRP7 or KHDC3L genes, following an autosomal recessive inheritance pattern.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Gestational trophoblastic disease