P822: Circulating cell-free DNA in the diagnosis of hydatidiform mole and digynic nonmolar triploidy

Hydatidiform mole (HM) and digynic nonmolar triploidy represent significant challenges in prenatal care, given their distinct chromosomal origins and the limitations of conventional diagnostic methods. Circulating cell-free DNA (cfDNA) has emerged as a promising non-invasive tool for the early detection of these gestational abnormalities, offering improved diagnostic accuracy, especially in cases where traditional imaging and histopathology may be inconclusive. This study investigates the potential of cfDNA analysis to distinguish between hydatidiform moles, characterized by an extra set of paternal chromosomes with abnormal trophoblastic proliferation, and digynic nonmolar triploidy, where an extra set of maternal chromosomes results in a nonviable fetus without molar characteristics.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103191
Primary Topic
Gestational Trophoblastic Disease Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

P822: Circulating cell-free DNA in the diagnosis of hydatidiform mole and digynic nonmolar triploidy

He‐Feng Huang, Songchang Chen, Naixin Xu, Jinglan Zhang et al.
Genetics in Medicine Open
Gestational Trophoblastic Disease Studies
article

P822: Circulating cell-free DNA in the diagnosis of hydatidiform mole and digynic nonmolar triploidy

He‐Feng Huang, Songchang Chen, Naixin Xu, Jinglan Zhang, Chenming Xu
article en

Abstract

Hydatidiform mole (HM) and digynic nonmolar triploidy represent significant challenges in prenatal care, given their distinct chromosomal origins and the limitations of conventional diagnostic methods. Circulating cell-free DNA (cfDNA) has emerged as a promising non-invasive tool for the early detection of these gestational abnormalities, offering improved diagnostic accuracy, especially in cases where traditional imaging and histopathology may be inconclusive. This study investigates the potential of cfDNA analysis to distinguish between hydatidiform moles, characterized by an extra set of paternal chromosomes with abnormal trophoblastic proliferation, and digynic nonmolar triploidy, where an extra set of maternal chromosomes results in a nonviable fetus without molar characteristics.

Genetics in Medicine OpenVol. 3
Shanghai Medical College of Fudan University (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Ministry of Education (TH), Women's Hospital, School of Medicine, Zhejiang University (CN), Obstetrics and Gynecology Hospital of Fudan University (CN)
Zero hunger
Openalex Percentile: Top 93%
Gestational Trophoblastic Disease Studies
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