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

ABSTRACT:

Background

Trisomy 18 (T18, Edwards syndrome) is a lethal chromosomal disorder characterized by multiple congenital anomalies and high perinatal mortality. Although epigenetic alterations have been described in aneuploidy conditions, their causal role in the pathogenesis of T18 remains unclear. This study aimed to characterize genome-wide DNA methylation changes associated with T18 during early development.

Material and methods

Genomic DNA was extracted from chorionic villi of five T18 and five euploid fetuses, as well as from normal maternal blood, at 11-13 weeks of gestation. High-resolution methyl-capture sequencing (MC-seq) was performed to profile DNA methylation at approximately 3.2 million CpG sites. Differentially methylated CpG sites (DMCs) and regions (DMRs) were i

SUBMITTER: Kim JY 

PROVIDER: S-EPMC12628925 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature