Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions
Hadjidaniel, Michael D.
Papageorgiou, Elisavet A.
Achilleos, Achilleas P.
Neofytou, Maria C.
Koumbaris, George L.
Patsalis, Philippos C.
Google Scholar check
MetadataShow full item record
DNA methylation is an epigenetic marker that has been shown to vary significantly across different tissues. Taking advantage of the methylation differences between placenta-derived cell-free DNA and maternal blood, several groups employed different approaches for the discovery of fetal-specific biomarkers. The aim of this study was to analyse whole-genome fetal and maternal methylomes in order to identify and confirm the presence of differentially methylated regions (DMRs). We have initially utilized methylated DNA immunoprecipitation (MeDIP) and next-generation sequencing (NGS) to identify genome-wide DMRs between chorionic villus sampling (CVS) and female non-pregnant plasma (PL) and peripheral blood (WBF) samples. Next, using specific criteria, 331 fetal-specific DMRs were selected and confirmed in eight CVS, eight WBF and eight PL samples by combining MeDIP and in-solution targeted enrichment followed by NGS. Results showed higher enrichment in CVS samples as compared to both WBF and PL samples, confirming the distinct methylation levels between fetal and maternal DNA for the selected DMRs. We have successfully implemented a novel approach for the discovery and confirmation of a significant number of fetal-specific DMRs by combining for the first time MeDIP and in-solution targeted enrichment followed by NGS. The implementation of this double-enrichment approach is highly efficient and enables the detailed analysis of multiple DMRs by targeted NGS. Also, this is, to our knowledge, the first reported application of MeDIP on plasma samples, which leverages the implementation of our enrichment methodology in the detection of fetal abnormalities in maternal plasma.
Showing items related by title, author, creator and subject.
Treatment of the pregnant mother with cancer: A systematic review on the use of cytotoxic, endocrine, targeted agents and immunotherapy during pregnancy. Part II: Hematological tumors Azim, Hatem A.; Pavlidis, Nicholas; Peccatori, Fedro A. (2010)Managing pregnant patients with hematological tumors pose even more conflicts compared to solid tumors. Unlike the majority of solid tumors, hematological malignancies are potentially curable; hence it is important to ...
Pavlidis, Nicholas; Pentheroudakis, George (2005)This review describes the epidemiology, pathology, clinical picture and therapeutic management of pregnant women with breast cancer. In addition, it covers other important issues like the safety of both diagnostic and ...
Presentation, management and outcome of 32 patients with pregnancy-associated breast cancer: A matched controlled study Halaska, M. J.; Pentheroudakis, George; Strnad, P.; Stankusova, H.; Chod, J.; Robova, H.; Petruzelka, L.; Rob, L.; Pavlidis, Nicholas (2009)Pregnancy-associated breast cancer (PABC) is a rare and challenging problem. We sought to describe epidemiology, management and outcome of women in whom breast cancer was diagnosed during pregnancy or within one year after ...