Related Experiment Videos
Familial recurrent hydatidiform mole: a review
Rosemary A Fisher1, Matthew D Hodges, Edward S Newlands
1Department of Cancer Medicine, Faculty of Medicine, Imperial College London, Charing Cross Campus, Fulham Palace Road, London W6 8RF, UK. r.fisher@imperial.ac.uk
The Journal of Reproductive Medicine
|October 2, 2004
Summary
Familial recurrent hydatidiform mole involves biparental complete moles due to genetic defects affecting imprinting. Subsequent pregnancies often result in moles, with a similar risk of persistent trophoblastic disease.
Area of Science:
- Genetics
- Reproductive Medicine
- Gynecologic Oncology
Background:
- Familial recurrent hydatidiform mole (FRHM) is a rare condition characterized by repeated complete hydatidiform moles.
- Unlike typical androgenetic moles, FRHM moles are of biparental origin.
- The genetic basis and implications for affected families require further elucidation.
Purpose of the Study:
- To review published data on FRHM.
- To examine the genetic underpinnings of FRHM.
- To assess pregnancy outcomes and persistent trophoblastic disease (PTD) risks in affected women.
Main Methods:
- Literature review of published data on FRHM.
- Analysis of genetic mapping studies.
- Review of pregnancy outcomes and PTD incidence in affected families.
Main Results:
- FRHM is linked to a gene on chromosome 19q13.4, causing imprinting dysregulation in the female germline.
- Subsequent pregnancies in affected women have a high likelihood of molar gestations (74% complete moles).
- The risk of PTD following molar pregnancies in FRHM is comparable to androgenetic complete hydatidiform moles.
Conclusions:
- FRHM results from genetic mutations impacting female germline imprinting.
- Affected women face a high recurrence risk of complete hydatidiform moles in future pregnancies.
- Monitoring for persistent trophoblastic disease is crucial in women with FRHM.