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A case of partial mole associated with trisomy 13
E Jauniaux1, A Halder, C Partington
1Academic Department of Obstetrics and Gynaecology, University College London Medical School, UK.
Summary
This study reports the first prenatal diagnosis of a partial mole associated with trisomy, specifically an extra chromosome 13. This condition mimicked a triploid partial mole but lacked the risk of persistent trophoblastic disease.
Area of Science:
- Genetics
- Obstetrics
- Pathology
Background:
- Partial moles are typically associated with triploidy.
- Rarely, partial moles are linked to tetraploidy or other aneuploidies.
Observation:
- A 21-week gestation pregnancy presented with ultrasound findings suggestive of a partial mole triploidy.
- Prenatal and postnatal cytogenetics revealed trisomy 13.
- Histopathology showed villous edema but no trophoblastic dysplasia.
Findings:
- This is the first reported case of prenatal diagnosis of a partial mole associated with trisomy (trisomy 13).
- The condition presented with ultrasound and placental features resembling a triploid partial mole.
- Maternal serum human chorionic gonadotropin levels remained normal.
Implications:
- Trisomy can present in utero with features mimicking a triploid partial mole.
- This presentation may not carry the risk of persistent trophoblastic disease associated with true molar pregnancies.
- Villous molar changes can occur without trophoblastic dysplasia in cases of trisomy.