Table 1.
Sample information.
Figure 1.
Circos plot of the detected copy number aberrations across the genome in maternal plasma.
From inside to outside: cases 01 to 06. Chromosome ideograms (outermost ring) are oriented pter to qter in a clockwise direction. Each bar represents a 1-Mb window. Regions with three or more consecutive 1-Mb bins of increased or reduced representation in plasma are indicated by green and red bars, respectively. Red arrows highlight the approximate chromosomal locations on these aberrant regions.
Figure 2.
Copy number aberrations detected in maternal plasma.
The chromosome(s) showing copy number aberrations for each case is shown. (A) Cases 01 to 04; (B) case 05; and (C) case 06. The genomic position is shown on the x-axis and the z-score is plotted on the y-axis. Each vertical bar represents a 1-Mb bin. Regions with three or more consecutive 1-Mb bins of increased or reduced representation in plasma are indicated by green and red bars, respectively.
Table 2.
The fetal DNA percentage estimated by the alterations of the genomic representation of the regions affected by microdeletion/microduplication, and the proportions of chromosome Y sequences in the maternal plasma.
Figure 3.
Diagnostic sensitivity for the detection of a 3 Mb microdeletion/microduplication.
The diagnostic sensitivity for detecting the aberration is plotted against the fetal DNA percentage. The computer simulation analysis was performed assuming that a total of 150 million plasma DNA molecules were analyzed.
Table 3.
Number of molecules required to be sequenced and aligned to achieve different diagnostic resolutions and diagnostic sensitivities assuming that the fetal DNA percentage is 5%a.