Gestational trophoblastic disease

Last revised by Dr Subhan Iqbal on 21 Dec 2021

Gestational trophoblastic disease (GTD) results from the abnormal proliferation of trophoblastic tissue and encompasses a wide spectrum of diseases, including:

Women older than 40 years and younger than 20 years may be at higher risk.

The presentation is variable:

A common characteristic of all gestational trophoblastic disease is an abnormal proliferation of trophoblast, but different components predominate in different tumors.

  • hydatidiform mole
    • complete hydatidiform mole (CHM)
      • commonest (up to 80%) manifestation of GTD
      • 46XX or 46XY: paternal chromosomes only
      • no fetus
      • β-hCG markedly elevated
      • atypia of cells present
      • treatment involves
        • curettage +/- hysterectomy in older women 11
        • follow-up urinary β-hCG for 6-12 months
      • may progress to
    • partial hydatidiform mole (PHM)
      • 69XXX or 69XXY (paternal and maternal chromosomes)
      • may have a fetus or fetal components
      • β-hCG moderately elevated
      • no cellular atypia
  • gestational trophoblastic neoplasia (GTN)​
    • invasive mole
      • distorts uterine zonal structures
      • boundaries between a tumor and myometrium are irregular and indistinct 3
      • may also invade parametrial tissue and blood vessels 4
    • gestational choriocarcinoma
      • may look identical to hydatidiform mole
      • arises following known molar pregnancy (50%), miscarriage (30%), normal pregnancy (20%)
      • can appear to have less vascularity than an invasive mole
      • higher β-hCG levels even than a complete mole
      • solid component with the visualized invasion
      • tends to invade myometrium through venous plexuses
        • patients often can present with multiple metastases without an easily identified primary, as it can often be small in an otherwise normal placenta
      • metastases can occur in
        • lungs: ~80%
        • vagina: ~30%
        • pelvis: 20% 
        • liver and brain: ~10% 12,13
    • placental site trophoblastic tumor (PSTT)
      • rare form
      • produces small amounts of β-hCG
      • raise human placental lactogen (hPL) levels
    • epithelioid trophoblastic tumor (ETT) 9
      • extremely rare form

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Cases and figures

  • Case 1: complete mole on ultrasound
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  • Case 2: coexistent complete mole and fetus
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  • Case 3: Molar pregnancy
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  • Case 4: invasive mole
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  • Case 5: invasive mole with bilateral theca lutein cysts
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  • Case 6: partial hydatidiform mole
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  • Case 7: complete mole on CT
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  • Case 8: choriocarcinoma
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