PMC7249382_01
NIPT results of the two cases. a, case 1; b, case 2. The blue line is the Stuffer z-score. The purple line and black line are the corrected z-score. Vertical axis: z-score. Horizontal axis: Chromosome localization
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PMC7249382_02_13039_2020_485_Fig1_HTML.jpg
Fig1
The cffDNA was 14.7%, and the z-score was - 6.71 (Table 1 and Fig. 1b).
Array-CGH results of case 1. a, fetal; b, paternal; c, maternal. Vertical axis: Copy Ratio (log2). Horizontal axis: Chromosome localization
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PMC7249382_01_13039_2020_485_Fig2_HTML.jpg
Fig2
However, the aCGH analysis revealed a 422 kb deletion at 15q13.3, rather than the 21q21.1 deletion (Fig. 2a).  The father's blood showed the same deletion (422 kb deletion) at the region of 15q13.3 (Fig. 2b and c).
PMC7249382_02
NIPT results of the two cases. a, case 1; b, case 2. The blue line is the Stuffer z-score. The purple line and black line are the corrected z-score. Vertical axis: z-score. Horizontal axis: Chromosome localization
13039_2020_485_Fig1_HTML.jpg
PMC7249382_02_13039_2020_485_Fig1_HTML.jpg
Fig1
The cffDNA was 14.7%, and the z-score was - 6.71 (Table 1 and Fig. 1b).
Array-CGH results of case 2. a, fetal; b, paternal; c, maternal. Vertical axis: Copy Ratio (log2). Horizontal axis: Chromosome localization
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PMC7249382_02_13039_2020_485_Fig3_HTML.jpg
Fig3
Then, aCGH was applied to the remaining uncultured amniocytes, and aCGH revealed a 1.377 Mb duplication rather than a 1.5 Mb deletion at 22q (Fig. 3a). It revealed the result of arr[hg19] 22q11.21(20716876-21363447)x1, indicating a 647 kb deletion of 22q11.21 in the mother, and an arr[hg19] 22q11.21(18636749-21461017)x3, indicating a 2.8 Mb duplication of 22q11.21 in the father (Fig. 3b and c); the area almost overlapped with the CNV of the fetus.