Evidence map›Paper›PMID 40549075›Full record

ArticleCurrent medical science2025

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

Yi-Na Jiang, Lu-Yao Li, Peng-Fei Nan, Fu-Quan Jia, Li-Qin Chen

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Article in Current medical science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

  1. Insights into Reproductive Immunology and Placental Pathology, 2nd Edition.International journal of molecular sciences · 2026
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5 · Who and what money

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5 authors.

Yi-Na Jiang *Department of Pathology, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.
Lu-Yao Li *Department of Pathology, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.
Peng-Fei NanDepartment of Pathology, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.
Fu-Quan JiaDepartment of Forensic Medicine, Inner Mongolia Medical University, Hohhot, 010059, China. jiafuquan915@163.com.
Li-Qin ChenDepartment of Forensic Medicine, Inner Mongolia Medical University, Hohhot, 010059, China. lqch72@126.com.

Funding

Key Research and Development Projects of Shaanxi Province S2024-YF-YB-SF-1359
6 · The paper itself

Abstract

objectiveCurrent 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.

methodsSamples 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.

resultsCHM 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.

conclusionThis 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.

Indexed as

Genotyping TechniquesHydatidiform MoleMicrosatellite RepeatsUterine NeoplasmsAdultCyclin-Dependent Kinase Inhibitor p57FemaleGenotypeHumansPregnancyCyclin-Dependent Kinase Inhibitor p57Complete hydatidiform molesForensic biomarkersGenotypeShort tandem repeatTAF9L

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.