How to Diagnose Molar Pregnancy
Molar pregnancy is diagnosed through the combination of vaginal bleeding (typically 6-16 weeks gestation), elevated serum hCG, and characteristic ultrasound findings, with histological examination after evacuation providing definitive confirmation. 1, 2
Clinical Presentation
Complete Hydatidiform Mole
- Vaginal bleeding is the most common presenting symptom, occurring between 6-16 weeks of gestation 1, 2
- Markedly elevated hCG levels, often exceeding 100,000 IU/L (though seen in <10% of partial moles) 1, 3
- Uterine enlargement beyond expected gestational age in approximately half of patients with complete mole 4
- Classic signs (now less common due to early detection): preeclampsia, hyperemesis gravidarum, anemia, and theca lutein ovarian cysts 1
Partial Hydatidiform Mole
- Presents later in first or early second trimester, often mimicking incomplete or missed abortion 1
- Lower hCG levels compared to complete mole 4
- Smaller uterine size than expected for gestational age 4
- Diagnosis frequently made only on histologic examination after curettage 1
Diagnostic Algorithm
Step 1: Initial Clinical Assessment
- Obtain quantitative serum hCG - essential for diagnosis and baseline monitoring 1, 2
- Perform transvaginal ultrasound as the primary imaging modality 1, 2
- Check blood type and screen (for Rh status and potential anti-D immunization) 2
Step 2: Ultrasound Findings
Complete Mole:
- "Snowstorm appearance" - heterogeneous mass with multiple small cystic spaces creating a vesicular pattern 1, 3
- Enlarged uterus without fetal development 1, 2
- Important caveat: These classic findings may not be present in early first trimester; ultrasound findings are more variable before 8-10 weeks 1
Partial Mole:
- Focal cystic spaces within the placenta 1
- Gestational sac that is empty or elongated along transverse axis 1
- Fetal anomalies or fetal demise may be present 1
- High false positive and negative rates on ultrasound, especially for partial mole 1, 2
Step 3: Additional Workup
- Complete blood count with platelets 1
- Liver, renal, and thyroid function tests (to assess for hyperthyroidism and other complications) 1
- Chest X-ray as baseline imaging 1, 2
Step 4: Definitive Diagnosis
- Histological examination is essential and the only definitive diagnostic method, as ultrasound alone has high false positive/negative rates 1, 2
- Perform suction dilation and curettage under ultrasound guidance for both treatment and tissue diagnosis 1, 2
- Reference pathology review at a Gestational Trophoblastic Disease center within 2 weeks is considered best practice 2
Critical Diagnostic Pitfalls
Do NOT Re-biopsy
- Re-biopsy to confirm malignant change is contraindicated due to risk of triggering life-threatening hemorrhage 1, 3
Ultrasound Limitations
- Ultrasound is not diagnostically reliable in the first trimester, particularly before 8 weeks 1
- Complete mole can appear similar to retained products of conception 1
- All products of conception from non-viable pregnancies must undergo histological examination regardless of ultrasound findings 1
hCG Monitoring for Diagnosis
- A plateaued hCG on three consecutive samples or rising hCG on two consecutive samples indicates malignant transformation to gestational trophoblastic neoplasia 1, 2, 3
- This monitoring begins after evacuation, not for initial diagnosis 2
Distinguishing Features
| Feature | Complete Mole | Partial Mole |
|---|---|---|
| hCG Level | Often >100,000 IU/L [1] | Usually lower [4] |
| Ultrasound | "Snowstorm," no fetus [1] | Focal cystic changes, may have abnormal fetus [1] |
| Uterine Size | Often enlarged [4] | Usually small [4] |
| Presentation | 6-16 weeks with bleeding [1] | Later, mimics missed abortion [1] |
| GTN Risk | 15-20% [2,3] | 1-5% [2,3] |
Special Considerations
- Pregnancy of unknown location: If ultrasound shows no intrauterine pregnancy but hCG is elevated, consider molar pregnancy in differential along with ectopic pregnancy and early intrauterine pregnancy 1
- Atypical presentations: Rarely, molar pregnancy can present with acute abdomen mimicking ruptured ectopic pregnancy 5
- Genetic testing may be indicated for recurrent molar pregnancies to identify familial recurrent hydatidiform mole (FRHM) 1, 2