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. 2025 Aug;45(4):889-900.
doi: 10.1007/s11596-025-00071-x. Epub 2025 Jun 23.

Genotype Identification of Complete Hydatidiform Moles without a Maternal Component: Attempts at a Novel 26-plex STR System

Yi-Na Jiang #  1 , Lu-Yao Li #  1 , Peng-Fei Nan  1 , Fu-Quan Jia  2 , Li-Qin Chen  3
Affiliations

Genotype Identification of Complete Hydatidiform Moles without a Maternal Component: Attempts at a Novel 26-plex STR System

Yi-Na Jiang et al. Curr Med Sci. 2025 Aug.

Abstract

Objective: Current autosomal short tandem repeat (STR) assays can analyze the zygotic composition by comparing the allelic genes at each locus of complete hydatidiform moles (CHM), with a maternal genotype serving as an essential reference for comparative analysis. However, their application in pathology represents a challenge because of deficiency or contamination of maternal-origin tissues. This study aimed to develop a novel STR genotyping method for identifying CHM genotypes without a maternal component.

Methods: Samples with the pathologic description of molar pregnancy were collected. Routine hematoxylin-eosin (HE) staining and p57 immunohistochemistry staining were conducted in accordance with standard guidelines. A novel 26-plex system was explored to classify CHM and diploid pregnancies. The system combined 22 STRs on chromosomes 21/18/13/X, 3 sex loci, and 1 quality control marker (TAF9L), enabling molecular diagnosis in the absence of maternal tissue. At last, traditional DNA typing based on villi and decidua (maternal component) of each case was used for result consistency analysis.

Results: CHM and nonmolar abortus could not be distinguished by the basic HE staining with no fetal evidence or other prominent features. DNA typing was successfully processed for all cases according to the novel 26-plex and traditional system. CHM (46XX) diagnosis required single A-STR/X-STR peaks and absent Y-chromosome markers, excluding chromosomal abnormalities via TAF9L analysis. When the villous tissue analysis revealed single peaks at X-STR/SRY loci, a 1:1 amelogenin ratio, and a 2:1 TAF9L peak ratio, these results overlapped with those of 46XY hydropic abortus or CHM. Notably, p57 immunohistochemical staining resolved the ambiguity. Consistency with traditional DNA genotyping confirmed system accuracy. This multiplex assay enhanced reliability in mole diagnosis, supporting clinical differentiation and genetic counseling.

Conclusion: This study presents a rapid and cost-effective assay for the genotypic identification of CHM without the need for a maternal component. The method combined the characteristics of STR loci distributed across different chromosomes and developed the clinic application of forensic biomarkers.

Keywords: Complete hydatidiform moles; Forensic biomarkers; Genotype; Short tandem repeat; TAF9L.

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Conflict of interest statement

Declarations. Conflict of Interests: All authors declare that there is no conflict of interest. Ethical Approval and Consent to Participate: All procedures performed in studies involving human participants comply with the ethical standards of the Declaration of Helsinki. This study was approved by the Institutional Ethics Committee of the First Affiliated Hospital of Xi’an Jiaotong University. As this study was retrospective, the Institutional Ethics Committee waived the requirement of obtaining the informed consent. Human Ethics: This study was approved by the Ethics Committee at the First Affiliated Hospital of Xi’an Jiaotong University (No. XJTU1AF2024LSYY-510). Consent for Publication: Not applicable.

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