Molar Pregnancy / Gestational Trophoblastic Disease (GTD)
When to consult a geneticist specialising in gestational trophoblastic disease
Gestational trophoblastic disease (GTD) diagnosis can be challenging. This study highlights the value of genetic tests like STR genotyping, p57 staining, and NGS in distinguishing HMs, identifying risks, and improving patient care. Emerging tests offer new diagnostic potential.
- Authors
Caroline Joyce
- Year
- 2024
- Journal Name
- Gynecologic and Obstetric Investigation
- Category
- Journal Article
- Keywords
- Molar pregnancy / Gestational Trophoblastic Disease
- Project
- Full Citation
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.
- Link to Publication
- https://doi.org/10.1159/000531218
Abstract
Gestational trophoblastic disease (GTD) includes hydatidiform moles (HMs) and rare trophoblastic tumours. While typical tissue microscopic appearance can distinguish HMs from non-molar pregnancies, early pregnancies, mixed cell conceptions, and twin pregnancies can complicate diagnosis. Trophoblastic tumours present challenges as they may be pregnancy related (gestational) or non-gestational. This study highlights the value of genetic testing to aid GTD diagnosis and improve patient management. In some cases, tests like short tandem repeat (STR) genotyping, ploidy analysis, next-generation sequencing, and special stains (p57 immunostaining) help facilitate accurate diagnoses. These cases highlight the importance of genetic tests in distinguishing low-risk (partial) HMs from high-risk (complete) HMs, identifying HMs twinned with normal pregnancies, and detecting other genetic abnormalities at conception. STR genotyping of pregnancy tissue and DNA sequencing of patient DNA can help identify an inherited susceptibility to recurrent molar pregnancies. It can also differentiate gestational from non-gestational trophoblastic tumours and determine the causative pregnancy, which is critical for prognosis in very rare tumours (PSTT & ETT). STR genotyping and p57 immunostaining are essential aids to GTD diagnosis. Newer tests such as next-generation sequencing and liquid (blood) biopsies show promise for advancing GTD diagnostics and identifying new blood tests to enable personalised patient care.