Molar Pregnancy / Gestational Trophoblastic Disease (GTD)
Novel scoring system provides high separation of diploidy and triploidy to aid partial hydatidiform mole diagnosis: an adaption of HER2 D-DISH for ploidy analysis
Diagnosing molar pregnancy in early gestation can be challenging due to overlapping clinical and histopathological features. We adapted the HER2 D-DISH assay to create a novel method of counting chromosomes in pregnancy tissue, to improve the accuracy of pathological diagnosis.
- Authors
Caroline Joyce, Susan Dineen, Keelin O'Donoghue, Brendan Fitzgerald
- Year
- 2024
- Journal Name
- Journal of Clinical Pathology
- Category
- Journal Article
- Keywords
- Molar pregnancy / Gestational Trophoblastic Disease
- Project
- Full Citation
Joyce CM, Dineen S, Deane J, Conlon N, O'Shea PM, Corcoran P, Coulter J, O'Donoghue K, Fitzgerald B. Novel scoring system provides high separation of diploidy and triploidy to aid partial hydatidiform mole diagnosis: an adaption of HER2 D-DISH for ploidy analysis. Journal of Clinical Pathology. 2024. https://doi.org/10.1136/jcp-2023-209265.
- Link to Publication
- https://doi.org/10.1136/jcp-2023-209265
Abstract
Diagnosing molar pregnancies, can be difficult especially in early pregnancy. We developed a method to improve the accuracy of molar pregnancy diagnosis when analysing pregnancy tissue microscopically in the laboratory. We modified a diagnostic method called the HER2 D-DISH assay which is routinely used in pathology laboratories for breast cancer. This method was adapted for counting chromosomes to determine ploidy or gene copy number in pregnancy tissue. We tested this method on 25 pregnancy tissue samples, some normal (46 chromosomes) and some abnormal (69 chromosomes, partial moles) and compared the results with existing methods to ensure our test was accurate. We created a simple counting system (the "rule of 5") to establish the number of chromosomes in pregnancy tissue to classify it as normal or abnormal. Our modified test was accurate, matching the original diagnosis in all cases. This new test makes the diagnosis of molar pregnancies easier and more accurate. Additionally, the equipment needed to perform this test is routinely available in most hospital laboratories, making this a useful practical test.