Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma

This pilot study demonstrates the feasibility of using mcf-DNA and mev-DNA for detecting Trisomy 21-associated fetal methylation signatures in maternal plasma. While consistent with earlier findings, these results validate the applicability of methylated DNA immunoprecipitation (MeDIP)-based qPCR methylation assays in a North Indian cohort and support their potential integration into population-specific non-invasive prenatal screening strategies.

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Publication Details

Journal
Frontiers in Medicine
Published
2026-03-04
DOI
https://doi.org/10.3389/fmed.2026.1704017
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00

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article

Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma

Shubha R. Phadke, Swasti Tiwari, Medha Srivastava, Tridiv Katiyar et al.
Frontiers in Medicine
Prenatal Screening and Diagnostics
article

Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma

Shubha R. Phadke, Swasti Tiwari, Medha Srivastava, Tridiv Katiyar, Suman Mishra
article en

Abstract

This pilot study demonstrates the feasibility of using mcf-DNA and mev-DNA for detecting Trisomy 21-associated fetal methylation signatures in maternal plasma. While consistent with earlier findings, these results validate the applicability of methylated DNA immunoprecipitation (MeDIP)-based qPCR methylation assays in a North Indian cohort and support their potential integration into population-specific non-invasive prenatal screening strategies.

Frontiers in MedicineVol. 13
Sanjay Gandhi Post Graduate Institute of Medical Sciences (IN)
Indian Council of Medical Research
Good health and well-being
Openalex Percentile: Top 35%
Prenatal Screening and Diagnostics
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