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Snapshot
  • A 27-year-old female presents to the emergency department at 11 weeks of gestation with 2 days of vaginal bleeding and pelvic pressure, as well as multiple daily episodes of nonbloody, nonbilious emesis over the past week. The patient states the bleeding is like heavy spotting with dark purplish-colored blood. On exam the uterus is larger than expected for gestational age. An ultrasound is performed and shows a snowstorm appearance of the uterus with absence of a fetus.
Introduction
  • Overview
    • a type of gestational trophoblastic disease (GTD)
      • molar pregnancies are considered premalignant
        • when malignant, are termed gestational trophoblastic neoplasia (GTN)
          • e.g., choriocarcinoma
        • originates in the placenta
          • has the potential to invade the uterus and metastasize
  • Epidemiology
    • incidence
      • 66-121 per 100,000 pregnancies
    • demographics
      • higher rates in Latin American, Asian, and Middle Eastern countries
    • risk factors
      • extremes of maternal age
      • history of previous mole
Classification
  • Complete mole 
    • 46,XX or 46,XY
    • an empty ovum fertilized by a single sperm
      • results in duplication of paternal genetic material (all DNA is from sperm)
    • higher risk of transformation into choriocarcinoma
      • 15-20% transform
  • Partial mole 
    • 69,XXX, 69,XXY, or 69,XYY 
    • a normal ovum is fertilized by 2 sperm
    • less likely to transform into choriocarcinoma
      • 1-5% transform
Presentation
  • Symptoms 
    • exaggeration of normal pregnancy symptoms due to extremely high β-hCG
      • hyperemesis gravidarum
        • extreme nausea/vomiting
      • vaginal bleeding
        •  “prune juice” discharge
          • due to accumulated blood in uterine cavity that has oxidized and liquified
      • pelvic discomfort
        • pain or pressure
  • Physical exam
    • pelvic exam
      • uterus larger than expected for gestational age
        • more common in complete mole
      • possible adnexal mass
      • possible grape-like mass in vagina
Imaging
  • Transvaginal ultrasound (TVUS)
    • indications
      • β-hCG > 100,000 mIU/mL
    • findings
      • central heterogeneous mass with numerous discrete anechoic spaces
      • “snowstorm,” “cluster of grapes,” or “honeycomb” appearance on older ultrasounds
      • if partial mole
        • fetal parts and amniotic fluid
        • abnormally wide gestational sac
        • abnormal-looking placenta
      • ovarian theca-lutein cysts
        • more likely in complete mole
Studies
  • ↑ β-hCG (> 100,000 mIU/mL)
    • complete mole > partial mole
Differential
  • Normal pregnancy
    • key distinguishing factors
      • uterus sized appropriately for gestation
      • β-hCG will be within normal pregnancy range
      • uterine pregnancy visualized on ultrasound
  • Miscarriage 
    • key distinguishing factors
      • β-hCG will be normal or decreased
      • uterine pregnancy visualized on ultrasound
      • +/- open cervical os on exam
      • +/- vaginal passage of fetal parts
Treatment
  • Medical
    • RhoGAM
      • indications
        • all Rh(D)-negative mothers with vaginal bleeding if father is Rh(D)-positive or unknown
      • modalities
        • single intramuscular or intravenous dose
  • Surgical
    • suction and curettage (D&C)
      • indications
        • both diagnostic and therapeutic
          • first-line treatment for mole
          • pathology confirms diagnosis
  • Follow-up
    • trend β-hCG weekly
      • indications
        • all patients with confirmed mole and/or elevated β-hCG
      • if continues to uptrend
        • workup for choriocarcinoma
Complications
  • Choriocarcinoma
    • malignant product of gestational contents
    • very high β-hCG that does not downtrend after surgical treatment for mole
    • can metastasize to lungs and brain
    • requires surgery and chemotherapy
  • Ovarian theca-lutein cysts 
    • bilateral, multicystic ovaries, often septated
    • secondary to β-hCG stimulation
    • can cause hyperandrogenism
    • also associated with multigestational pregnancy, polycystic ovarian syndrome (PCOS), and ovulation induction due to stimulation by elevated levels of β-hCG
  • Hyperthyroidism
  • Preeclampsia
  • Respiratory distress
    • usually secondary to trophoblastic embolization
 

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(M1.RP.15.73) A 31-year-old Asian woman presents with painless vaginal bleeding late in the first trimester of her pregnancy. She has had no prenatal care up to this point. Serum HCG levels are elevated much more than expected. You obtain an abdominal ultrasound, and observed the findings in figure A.

Which of the following is the most likely karyotype associated with this pregnancy?
Tested Concept

QID: 106555
FIGURES:
1

45XO

3%

(3/95)

2

47XYY

3%

(3/95)

3

46XX

64%

(61/95)

4

69XXX

11%

(10/95)

5

69XYY

17%

(16/95)

M 1 E

Select Answer to see Preferred Response

(M1.RP.15.27) A 21-year-old Korean female in her 12th week of pregnancy presents with abdominal pain, vaginal bleeding, and excessive vomiting. A transvaginal ultrasound shows what appears to look like a cluster of grapes (Figure A). Serology demonstrates a significantly increased beta-HCG, and physical exam reveals an abnormally large uterus for the gestational age of the pregnancy. Subsequent genetic analysis reveals a karyotype of 46,XX. Which of the following is the most likely pathogenesis? Tested Concept

QID: 107026
FIGURES:
1

Ovum fertilized by one sperm and implanted in fallopian tubes

2%

(1/64)

2

Ovum fertilized by one sperm and implanted in the uterus

6%

(4/64)

3

Ovum fertilized by two sperm

9%

(6/64)

4

Ovum fertilized by one sperm with duplication of the sperm

12%

(8/64)

5

Empty ovum feritilized by two sperm

67%

(43/64)

M 2 D

Select Answer to see Preferred Response

(M1.RP.13.46) A 29-year-old female reports having a positive home pregnancy test result 9 weeks ago. She presents today with vaginal bleeding and complains of recent onset abdominal pain. Ultrasound of the patient’s uterus is included as Image A. Subsequent histologic analysis (Image B) reveals regions of both normal as well as enlarged trophoblastic villi. Which of the following is the most likely karyotype associated with this pregnancy? Tested Concept

QID: 101264
FIGURES:
1

46 XX, both of maternal origin

7%

(3/46)

2

46 XY, both of paternal origin

17%

(8/46)

3

69 XXY

65%

(30/46)

4

47 XXY

7%

(3/46)

5

45 XO

0%

(0/46)

M 2 E

Select Answer to see Preferred Response

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