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. 2019 Apr 11;13:18. doi: 10.1186/s40246-019-0201-y

Table 3.

The NIPT results verified by Karyotype analysis, CMA, and next-generation sequencing (NGS)

Case Karyotype analysis CMA NGS
1 / / /
2 46,XN NA /
3 46,XN NA /
4 46,XN NA 47,XX,+ 7 [80]/46,XX [20]
5 / / /
6 / / /
7 / / /
8 46,XN NA 47,XX,+ 7 [20]/46,XX[80]
9 46,XN NA 48,XX, + 2, + 7 [15]/46,XX[85]
10 46,XN NA /
11 / / /
12 46,XN NA 47,XY,+ 7 [70]/46,XY [30]
13 46,XN NA 47,XX,+ 7 [30]/46,XX[70]
14 46,XN NA /
15 46,XN NA /
16 / / /
17 46,XN NA /
18 / / /
19 46,XN NA /
20 46,XN NA 47,XX,+ 7 [40]/46,XX[60]
21 46,XN NA /
22 46,XO 7q21.13q36.3 (89,040,945-159,119,707) × 3/Xp22.33p11.22 (168,551-53,973,366) × 1 /
23 46,XN 7q11.23 (72,600,482-74,175,485) × 3 /
24 46,XN NA 47,XX,+ 7 [15]/46,XX[85]
25 46,XN NA /
26 46,XN NA /
27 / / /
28 46,XN NA 47,XX,+ 7 [65]/46,XX [35]
29 46,XN NA 47,XX,+ 7 [20]/46,XX[80]
30 46,XY NA /
31 46,XN NA /
32 / / /
33 46,XN NA /
34 / / /
35 46,XN NA 47,XX,+ 7 [15]/46,XX[85]

CMA chromosomal microarray analysis, NGS next-generation sequencing, NA normal