Fig. 3: Genetic deconvolution of fetal and maternal cfDNA admixtures precludes maternal interference. | Cell Discovery

Fig. 3: Genetic deconvolution of fetal and maternal cfDNA admixtures precludes maternal interference.

From: Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening

Fig. 3

a–c Representative cases with maternal CNV revealed by changes in both the SNP AF and RD panels, including a ~3.1 Mb duplication (a), a ~0.35 Mb duplication (b), and a ~0.5 Mb duplication (c). d–f Representative cases with maternal AOH revealed by changes in the SNP AF panel only, including a ~3.2 Mb AOH region on chr21 (d), a ~16 Mb AOH region on chr18 (e), and a ~3.1 Mb AOH region on chr22 (f). g A representative case of a dizygotic twin pregnancy with both an increased number of detected fetal SNPs and their AF variation. h Percentages of cases with multiple gestations or non-maternity, and cases with maternal CNV (size > 200 kb) or maternal AOH regions (≥ 75 consecutive homozygous SNPs) detected on chr13, chr18, chr21, chr22, and chrX. Probes span essentially entire mappable regions on chr13, chr18, chr21, and chrX. The SNPs shown for chr22 are those on the critical region associated with DiGeorge syndrome (chr22:17,322,843-21,118,912, see Materials and methods). CNV copy number variation, SNP single nucleotide polymorphism, AOH absence of heterozygosity, AF allelic fraction, RD read depth.

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