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Molar Pregnancy / Gestational Trophoblastic Disease (GTD)

Morphology combined with HER2 D-DISH ploidy analysis to diagnose partial hydatidiform mole: an evaluation audit using molecular genotyping

Hydatidiform moles (HMs) are abnormal pregnancies often needing genetic tests for diagnosis. This study found HER2 D-DISH ploidy analysis was as reliable as DNA genotyping for partial HMs. Accurate classification is vital for patient management and recording HM incidence.

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

Biomarkers for Gestational Trophoblastic Disease

Full Citation

Joyce CM, Maher GJ, Dineen S, Suraweera N, McCarthy TV, Coulter J, O'Donoghue K, Seckl MJ, Fitzgerald B. Morphology combined with HER2 D-DISH ploidy analysis to diagnose partial hydatidiform mole: an evaluation audit using molecular genotyping. Journal of Clinical Pathology. 2024. https://doi.org/10.1136/jcp-2023-209269.

Link to Publication
https://doi.org/10.1136/jcp-2023-209269

Abstract

Hydatidiform moles (HMs) are abnormal pregnancies which are classified as complete (CHM) or partial (PHM). PHMs can be difficult to diagnose based on appearance alone and ploidy analysis is often required to determine chromosome number and confirm the diagnosis. This study examined how well PHMs were diagnosed using HER2 D-DISH ploidy analysis compared to DNA analysis using short tandem repeat (STR) genotyping. Over 2 years, 103 out of 1265 pregnancy tissue samples required ploidy analysis. A sample of 40 cases (PHM and non-molar) were reanalysed using STR genotyping, a genetic test which compares DNA in the pregnancy tissue to the mother’s DNA, to determine chromosome number. The results showed that all 36 successfully tested cases matched the original diagnosis. All PHMs were triploid with two copies of the father’s DNA and one copy of the mother’s DNA. Some non-molar cases had other genetic abnormalities that explained the pregnancy loss. This study confirms the reliability of our HER2 D-DISH ploidy analysis for diagnosing PHMs, helping to ensure an accurate diagnosis.

Pregnancy Loss Research Group

Pregnancy Loss Research Group, Department of Obstetrics & Gynaecology, University College Cork, Fifth Floor, Cork University Maternity Hospital, Wilton, Cork, T12 YE02, Ireland,

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