Table 2.
Comparison of results obtained in the current study and results from diagnostic routine
| POC | Result after routine diagnostics (obtained by karyotyping, FISH or aCGH)b | Result obtained in the current study by aCGH + SNPb | Congruency | |||
|---|---|---|---|---|---|---|
|
Samples with known aneuploidy |
Native villi |
Proliferation in cell culture |
1 |
45,X |
arr (X)×1 |
Yes |
| 2 |
45,X |
arr (X)×1 |
Yes |
|||
| 3 |
45,X |
arr (X)×1 |
Yes |
|||
| 4 |
45,X |
arr (X)×1 |
Yes |
|||
| 5 |
47,XX,+7 |
arr (7)×3 |
Yes |
|||
| 6 |
47,XX,+7 |
arr (7)×3 |
Yes |
|||
| 7 |
47,XX,+10 |
arr (10)×3 |
Yes |
|||
| 8 |
47,XX,+12 |
arr (10)×3 |
Yes |
|||
| 9 |
47,XX,+12 |
arr (12)×3,(X)×1 |
Yes, additionally monosomy X detected |
|||
| 10 |
47,XX,+14 |
arr (14)×3 |
Yes |
|||
| 11 |
47,XX,+15 |
arr (15)×3 |
Yes |
|||
| 12 |
47,XX,+15 |
arr (15)×3 |
Yes |
|||
| 13 |
47,XX,+16 |
arr (16)×3 |
Yes |
|||
| 14 |
47,XY,+16 |
arr (16)×3 |
Yes |
|||
| 15 |
47,XY,+16 |
arr (16)×3 |
Yes |
|||
| 16 |
47,XX,+18 |
arr (18)×3 |
Yes |
|||
| 17 |
47,XY,+20 |
arr (20)×3 |
Yes |
|||
| 18 |
47,XY,+21 |
arr (21)×3 |
Yes |
|||
| 19 |
47,XX,+21 |
arr (21)×3 |
Yes |
|||
| 20 |
47,XX,+22 |
arr (22)×3 |
Yes |
|||
| 21 |
47,XX,+22 |
arr (22)×3 |
Yes |
|||
| 22 |
47,XY,+22 |
arr (22)×3 |
Yes |
|||
| 23 |
48,XX,+6,+10 |
arr (6)×3,(10)×3 |
Yes |
|||
| 24 |
48,XX,+7,+16 |
arr (7)×3,(16)×3 |
Yes |
|||
| 25 |
48,XY,+14,+20 |
arr (14)×3,(20)×3 |
Yes |
|||
| 26 |
48,XX,+18,+22 |
arr (18)×3,(22)×3 |
Yes |
|||
| 27 |
49,XX,+13,+16,+21 |
arr (13)×3,(16)×3,(21)×3 |
Yes |
|||
| 28 |
68,XXY,-11 |
arr (X)×1 ~ 2 |
No, gonosome profile indicates polyploidy, but loss of chr. 11 was missed |
|||
| 29 |
70,XXY,+21 |
arr (21)×3,(X)×1 ~ 2 |
Yes |
|||
| 30 |
92,XXXX |
arr (1–22,X)×2 |
No, tetraploidy was missed |
|||
| 31 |
92,XXXX |
arr (1–22,X)×2 |
No, tetraploidy was missed |
|||
| Cell culture failure |
32 |
arr (4)×3c |
arr (4)×3 |
Yes |
||
| 33 |
arr (15)×3c,d |
arr (15)×3 |
Yes |
|||
| 34 |
arr (16)×3c |
arr (16)×3 |
Yes |
|||
| 35 |
arr (22)×3c |
arr (22)×3 |
Yes |
|||
| Samples with presumptive euploidy | Native villi |
Proliferation in cell culture |
36 |
45,XY,rob (13;14) (q10;q10) |
arr (1–22)×2,(XY)×1 |
Yes |
| 37 |
46,XX |
arr (1–22,X)×2 hmz |
Yes, additionally hydatidiform mole detected |
|||
| 38 |
46,XY |
arr 2p24.3 (12,849,885-15,823,789)×1 |
Yes, additionally CNC detected |
|||
| 39 |
46,XX |
arr 6q23.2q24.31 (131,723,146-147,738,560)×2 hmz |
Yes, AOH of uncertain clinical significance detected |
|||
| 40 |
46,XY |
arr 6q23.3q25.1 (135,836,902-150,015,258)×2 hmz |
Yes, but false positive AOH call |
|||
| 41 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 42 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 43 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 44 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 45 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 46 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 47 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 48 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 49 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 50 |
46,XY |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 51 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 52 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 53 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 54 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 55 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 56 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 57 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| Cultured villi |
58 |
46,XX |
arr (1–22,X)×2 |
Yes |
||
| 59 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 60 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 61 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 62 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 63 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| 64 |
46,XX |
arr (1–22,X)×2 |
Yes |
|||
| Native villi |
Cell culture failure | 65 |
nuc ish (DXZ1x2,D18Z1x2), (RB1x2,D16Z1x2,D18Z1x2,DSCRx2,BCRx2) |
arr (1–22,X)×2 |
Yes |
|
| 66 |
nuc ish (DXZ1x1,DYZ3x1,D18Z1x2), (RB1x2,D16Z3x2,DSCRx2,BCRx2) |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 67 |
arr (1–22,X)×2e |
arr (1–22,X)×2 |
Yes |
|||
| 68 |
arr (1–22)×2,(XY)×1c |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| 69 |
arr (1–22)×2,(XY)×1c |
arr (1–22)×2,(XY)×1 |
Yes |
|||
| NFa | 70 | arr (1–22)×2,(XY)×1f | arr (1–22)×2,(XY)×1 | Yes |
aNF: native fetal.
baccording to ISCN 2013 [35].
c4x180K (Agilent Technologies, Santa Clara, USA).
d8x60K (Agilent Technologies, Santa Clara, USA).
e24sure (BlueGnome, Ltd., Cambridge, UK).
f4x44K (Agilent Technologies, Santa Clara, USA).