Table 3 The NIPT results verified by Karyotype analysis, CMA, and next-generation sequencing (NGS)
From: The significance of trisomy 7 mosaicism in noninvasive prenatal screening
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] |