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Biomarkers for Gestational Trophoblastic Disease

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Biomarkers for Gestational Trophoblastic Disease


Identification of Biomarkers for the Diagnosis, Management and Follow-up of Women with Gestational Trophoblastic Disease

What is this project about?

Identification of Biomarkers for the Diagnosis, Management and Follow-up of Women with Gestational Trophoblastic Disease

Gestational Trophoblastic Disease (GTD) also known as molar pregnancy is a rare disorder affecting one in 600 pregnancies. Most molar pregnancies resolve following uterine evacuation but some progress to malignant disease requiring chemotherapy. The pregnancy hormone, human chorionic gonadotrophin (hCG) is an ideal biomarker for GTD as its concentration reflects trophoblastic activity and disease burden.

This project aims to evaluate biomarkers for GTD to allow earlier detection of disease recurrence and progression to malignant disease.

Meet Caroline Joyce, PhD Student, Biomarkers for Gestational Trophoblastic Disease Project

What is involved?

  • National survey of women on the GTD Registry
  • Systematic review on the use of hCG in diagnosis, monitoring and treatment of GTD
  • Audit of molar pregnancy comparing histological and genetic classification
  • Evaluation of commercial hCG immunoassays used in the diagnosis and monitoring of GTD
  • Evaluation of new biomarkers for use in the diagnosis and monitoring of Gestational Trophoblastic Neoplasia (GTN) - placental growth factor (PIGF) and cell free DNA (cfDNA)
  • Qualitative study of General Practitioners as stakeholders engaging with patients on the GTD Registry.

Who is involved?

Project team

Name Affiliation Role
Caroline Joyce Pregnancy Loss Research Group  PhD Student
Professor Keelin O'Donoghue Pregnancy Loss Research Group  Primary Supervisor
Dr John Coulter Department of Obstetrics & Gynaecology, Cork University Maternity Hospital, Cork Co-supervisor
Professor Tommie McCarthy School of Biochemistry & Cell Biology, University College Cork Co-supervisor
Dr Brendan Fitzgerald Pregnancy Loss Research Group; Department of Pathology, Cork University Hospital, Cork Collaborator

External collaborators

Name Affiliation Role
Professor Michael Seckl Trophoblastic Tumour Screening & Treatment Centre, Charing Cross Hospital, London, United Kingdom Collaborator
Dr Geoffrey Maher Trophoblastic Tumour Screening & Treatment Centre, Charing Cross Hospital, London, United Kingdom Collaborator

Dissemination activities

Journal articles

  • Joyce CM, Coulter J, Kenneally C, McCarthy TV, O'Donoghue K. Experience of women on the Irish National Gestational Trophoblastic Disease Registry. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2022;272:206-212. https://doi.org/10.1016/j.ejogrb.2022.03.039.
  • Joyce CM, Fitzgerald B, McCarthy TV, Coulter J, O'Donoghue K. Advances in the diagnosis and early management of gestational trophoblastic disease. BMJ Medicine. 2022;1:e000321. https://doi.org/10.1136/bmjmed-2022-000321.
  • Hamid M, Joyce CM, Carroll HK, Kenneally C, Mulcahy S, O'Neill M-K, Coulter J, O'Reilly S. Challenging gestational trophoblastic disease cases and mimics: An exemplar for the management of rare tumours. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2023;286:76-84. https://doi.org/10.1016/j.ejogrb.2023.05.016
  • Bartosch C, Nadal A, Braga AC, Salerno A, Rougemont A-L, Van Rompuy A-S, Fitzgerald B, Joyce C, Allias F, Maher GJ, Turowski G, Tille J-C, Drak Alsibai K, Van de Vijver K, McMahon L, Sunde L, Pyzlak M, Downey P, Wessman S, Patrier S, Kaur B, Fisher R. Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles. Virchows Arch. 2023. https://doi.org/10.1007/s00428-023-03658-8.
  • Joyce CM, Wakefield C, Chen-Maxwell D, Dineen S, Kenneally C, Downey P, Duffy C, O'Donoghue K, Coulter J, Fitzgerald B. Appraisal of hydatidiform mole incidence and registration rates in Ireland following the establishment of a National Gestational Trophoblastic Disease Registry. Journal of Clinical Pathology. 2024. https://doi.org/10.1136/jcp-2023-209270.
  • 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
  • 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.
  • McMahon LM, Joyce CM, Cuthill L, Mitchell H, Jabbar I, Sweep F. Measurement of hCG in women with gestational trophoblastic disease. Gynecologic and Obstetric Investigation. 2024;89(3):178–197. https://doi.org/10.1159/000531499.
  • McMahon LM, Maher GJ, Joyce CM, Niemann I, Fisher RA, Sunde L. When to consult a geneticist specialising in gestational trophoblastic disease. Gynecologic and Obstetric Investigation. 2024;89(3):198–213. https://doi.org/10.1159/000531218.
  • Joyce CM, O’Shea PM, Lynch R, Costelloe SJ, McCarthy T, Coulter J, Hayes-Ryan D, O’Donoghue K. Proof-of-concept study: Remote capillary blood collection for hCG analysis in early pregnancy. European Journal of Obstetrics & Gynecology and Reproductive Biology. 2024;300:309-314. https://doi.org/10.1016/j.ejogrb.2024.07.040

Blogs

Press releases / news items

Project status

Ongoing: July 2019 to September 2023

Further information

Please email Dr Caroline Joyce: carolinejoyce@ucc.ie

 

Funders

"Identification of Biomarkers for the Diagnosis, Management and Follow-up of Women with Gestational Trophoblastic Disease" is funded by the Irish Research Council: Employment-Based Programme, in partnership with HSE South [IRC EBPPG/2021/38].

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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