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Updated: Mar 30, 2026
11:54
Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
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Triploidy--Observations in 154 Diandric Cases
Nanna Brink Scholz1, Lars Bolund1,2, Mette Nyegaard1
1Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Plos One
|November 13, 2015
Summary
Triploid hydatidiform moles (HMs) consistently show two paternal DNA contributions (P1P2M). This study found no cases of gestational trophoblastic neoplasia (GTN) in 154 triploid samples, estimating the GTN risk at 0%.
Area of Science:
- Reproductive biology
- Human genetics
- Gynecologic oncology
Background:
- Hydatidiform moles (HMs) are abnormal pregnancies with significant risks of miscarriage and gestational trophoblastic neoplasia (GTN).
- Most HMs exhibit diandric diploid (PP) or diandric triploid (PPM) parental origins.
- Understanding the genetic basis of HMs is crucial for predicting and managing associated complications.
Purpose of the Study:
- To investigate the parental genetic contributions and chromosomal constitutions in triploid or near-triploid hydatidiform moles.
- To determine the risk of gestational trophoblastic neoplasia (GTN) following a triploid molar pregnancy.
Main Methods:
- Collection and analysis of 154 triploid or near-triploid conceptus samples with vesicular chorionic villi.
- Utilized DNA marker analysis, methylation-sensitive MLPA, and whole-genome SNP analysis.
- Compiled data from patient registries and medical records.
Main Results:
- All 154 triploid samples demonstrated two distinct paternal contributions (P1P2M).
- Observed sex chromosomal constitutions (XXX, XXY, XYY) occurred in ratios of 5.7: 6.9: 1.0.
- No instances of GTN were identified in the studied triploid HM cohort.
Conclusions:
- Confirms that all triploid human conceptuses with vesicular chorionic villi possess the P1P2M parental type.
- Sex chromosomal ratios suggest a combination of meiotic errors and selection against XYY conceptuses.
- The estimated risk of GTN after a triploid mole is 0% (95% CI: 0-1.4%), based on this and previous studies.
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