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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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Genotype Identification of Complete Hydatidiform Moles without a Maternal Component: Attempts at a Novel 26-plex STR
Yi-Na Jiang1, Lu-Yao Li1, Peng-Fei Nan1
1Department of Pathology, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.
Current Medical Science
|June 23, 2025
Summary
This study developed a novel 26-plex short tandem repeat (STR) genotyping assay for complete hydatidiform mole (CHM) diagnosis. The assay accurately identifies CHM without maternal tissue, improving mole diagnosis and genetic counseling.
Area of Science:
- Genetics
- Molecular Biology
- Pathology
Background:
- Autosomal short tandem repeat (STR) assays are crucial for analyzing zygotic composition in complete hydatidiform moles (CHM).
- Maternal genotype reference is typically essential for comparative analysis.
- Maternal tissue deficiency or contamination poses challenges for current STR assay applications in pathology.
Purpose of the Study:
- To develop a novel short tandem repeat (STR) genotyping method for identifying complete hydatidiform mole (CHM) genotypes.
- To enable CHM diagnosis in the absence of maternal tissue.
- To enhance the reliability of mole diagnosis and support clinical differentiation.
Main Methods:
- Collected samples with molar pregnancy pathology descriptions.
- Employed routine hematoxylin-eosin (HE) staining and p57 immunohistochemistry.
- Developed and utilized a novel 26-plex STR system including 22 autosomal STRs, 3 sex loci, and 1 quality control marker (TAF9L).
- Compared results with traditional DNA typing using villi and decidua.
Main Results:
- Basic HE staining was insufficient to distinguish CHM from nonmolar abortus.
- The 26-plex STR system successfully genotyped all cases, enabling molecular diagnosis without maternal tissue.
- p57 immunohistochemistry resolved ambiguities in cases with overlapping results between CHM and hydropic abortus.
- Consistency analysis confirmed the accuracy and reliability of the novel multiplex assay.
Conclusions:
- A rapid, cost-effective assay for genotypic CHM identification without maternal components was developed.
- The assay leverages STR loci across different chromosomes for improved diagnostic capabilities.
- This method advances the clinical application of forensic biomarkers in mole diagnosis.
