Fig. 4

Analysis of fetal-specific and T21-specific differentially modified regions. a Venn diagrams indicating the overlap of the pregnancy-specific and CV-specific DMRs that constitute the placenta-specific DMR sets for uCG and 5hmCG data. b Pearson correlation of the modification differences observed in the placenta-specific DMRs. Pregnancy-specific changes on the x-axis indicate modification differences between NPCs and cfDNA samples of pregnant women. CV-specific changes on the y-axis indicate modification differences between NPCs and CVS. c Enrichment of genomic elements for the placenta-specific and T21-specific DMRs using Fisher’s exact test. CGI, CG island; lincRNA, long intergenic non-coding RNA. d T21-specific DMRs exhibit higher CG-coverage and CG-fraction differences than non-differentially modified regions. logFC represents a log fold-change difference between T21-diagnosed pregnancies and healthy pregnancies