Epigenome-wide profiling of trisomy 18 specific DNA methylation signatures in first-trimester chorionic villi

To our knowledge, this is the first comprehensive MC-seq-based analysis of T18-specific DNA methylation patterns in first-trimester chorionic villi. These findings suggest that DNA methylation changes may represent downstream consequences of chromosomal imbalance in T18 and provide a foundation for future investigations into its pathophysiology and the development of epigenetic biomarkers for early non-invasive detection.

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Publication Details

Journal
Clinical Epigenetics
Published
2025-11-19
DOI
https://doi.org/10.1186/s13148-025-02018-4
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00

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article

Epigenome-wide profiling of trisomy 18 specific DNA methylation signatures in first-trimester chorionic villi

Ji Hyae Lim, You Jung Han, Sang Hee Jung, Hyun Mee Ryu et al.
Clinical Epigenetics
Prenatal Screening and Diagnostics
article

Epigenome-wide profiling of trisomy 18 specific DNA methylation signatures in first-trimester chorionic villi

Ji Hyae Lim, You Jung Han, Sang Hee Jung, Hyun Mee Ryu, Yong Jun Choi, Yang Su, Ji Hyon Jang, Young Ran Kim, Jin‐Woo Kim, Hyun Jung Lee, Nari Kim, Ju Yeon Kim
article en

Abstract

To our knowledge, this is the first comprehensive MC-seq-based analysis of T18-specific DNA methylation patterns in first-trimester chorionic villi. These findings suggest that DNA methylation changes may represent downstream consequences of chromosomal imbalance in T18 and provide a foundation for future investigations into its pathophysiology and the development of epigenetic biomarkers for early non-invasive detection.

Clinical EpigeneticsVol. 17(1)
CHA University Bundang Medical Center (KR), CHA University (KR), CHA University Gangnam Medical Center (KR)
Korea Health Industry Development Institute
Openalex Percentile: Top 53%
Prenatal Screening and Diagnostics
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Epigenome-wide profiling of trisomy 18 specific DNA methylation signatures in first-trimester chorionic villi — Ji Hyae Lim, You Jung Han, et al. · Clinical Epigenetics (2025) | TGRS Research Map | TGRS