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Table 2 Comparison of results obtained in the current study and results from diagnostic routine

From: Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy

    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
  1. aNF: native fetal.
  2. baccording to ISCN 2013 [35].
  3. c4x180K (Agilent Technologies, Santa Clara, USA).
  4. d8x60K (Agilent Technologies, Santa Clara, USA).
  5. e24sure (BlueGnome, Ltd., Cambridge, UK).
  6. f4x44K (Agilent Technologies, Santa Clara, USA).