Gestational Trophoblastic Disease

Gestational trophoblastic diseases are a spectrum of placental disorders resulting from abnormal placental trophoblastic growth. These disorders range from benign molar pregnancies (complete and partial moles) to neoplastic conditions such as invasive moles and choriocarcinoma. Diagnosis is confirmed by elevated serum beta human chorionic gonadotropin (hCG) and ultrasound findings, which are dependent on the disorder. Treatment is primarily through dilation and curettage and/or methotrexate.

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Overview

Epidemiology

  • Occurs in about 1 pregnancy in 1,200 pregnancies in the United States, with hydatidiform mole representing 80 percent of the cases. Higher incidence in Southeast Asia and Japan 
  • Risk factors:
    • History of gestational trophoblastic disease (GTD)
    • History of prior spontaneous abortion and/or infertility
    • Protein, folic acid, and carotene deficiency

Classification

  • Hydatidiform moles: considered premalignant because of their potential for malignancy
    • Complete mole
    • Partial mole
  • Invasive moles
  • Choriocarcinoma: incidence USA 1/40,000

Hydatidiform Mole

Hydatidiform moles are characterized by cystic swelling of the chorionic villi and proliferation of the chorionic epithelium. There are 2 types: complete mole and partial mole.

Complete molePartial mole
Karyotype46,XX or 46,XYTriploid (69,XXX, 69,XXY, or 69,XYY)
Formed fromEnucleated egg and a single sperm2 sperm and 1 egg
Fetal partsAbsentPresent
Human chorionic gonadotropin (HCG) level↑↑↑
Ultrasound findings
  • Honeycomb uterus
  • “Clusters of grapes”
  • “Snowstorm” uterus
Reveals fetal parts
Malignancy riskHigher risk for choriocarcinomaRare

Clinical presentation

  • Vaginal bleeding
  • Uterine enlargement (more than expected for given gestational age)
  • Pelvic pressure or pain
  • May be associated with 
    • Early (before 20 weeks) preeclampsia
    • Theca-lutein cysts
    • Hyperemesis gravidarum
    • Hyperthyroidism

Diagnosis

  • HCG levels: ↑ serum beta-hCG 
  • Ultrasound:
    • Reveals an irregular distribution of hypoechoic (cystic) and hyperechoic (solid) areas within the uterus
    • Characteristically referred to as a “snowstorm pattern

Treatment

  • Dilation and curettage with methotrexate
  • HCG levels are monitored (expected to downtrend after treatment)
  • Hysterectomy (last resort)
Blasenmole CT Axial

Hydatid in axial computed tomography (CT) image

Image: “Blasenmole Computertomographie axial” by Hellerhoff. License: CC BY-SA 3.0

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Choriocarcinoma

Choriocarcinoma is a highly aggressive malignant neoplasm of trophoblastic cells that can develop during or after pregnancy in the mother or baby.

Etiology

Can be preceded by:

  • Hydatidiform mole (50%)
  • Abortion of an ectopic pregnancy (20%)
  • Normal-term pregnancy (30%)

Clinical presentation

  • Abnormal uterine bleeding or amenorrhea
  • If hematogenous spread to the lungs: shortness of breath and/or hemoptysis

Diagnosis

  • HCG levels: ↑ serum beta-hCG
  • Pelvic ultrasound: hypervascularity
  • Chest X-ray: pulmonary metastases with “cannonball” shape

Treatment

  • Depends on stage and risk classification
  • Low risk: methotrexate monotherapy or combination with actinomycin D
  • High risk: multi-agent regimen
    • Etoposide
    • Methotrexate (MTX)
    • Actinomycin D
    • Leucovorin calcium
    • Cyclophosphamide
    • Vincristine
Interface between choriocarcinoma with central necrosis and normal placenta

Choriocarcinoma with central necrosis

Image: “Interface between choriocarcinoma with central necrosis and normal placenta” by Department of Obstetrics and Gynecology, St. Louis University, Missouri, USA. License: CC BY 2.0

Clinical Relevance

Ectopic pregnancy: Eccyesis or ectopic pregnancy refers to the implantation of the blastocyst outside the uterine cavity. The most common site is the fallopian tube. Affected patients suffer from acute abdominal pain. Diagnosis is by ultrasound and laboratory analysis, which confirms pregnancy with implantation outside the uterus.

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