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

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)×3^c

arr (4)×3

Yes

33

arr (15)×3^c,d

arr (15)×3

Yes

34

arr (16)×3^c

arr (16)×3

Yes

35

arr (22)×3^c

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)×2^e

arr (1–22,X)×2

Yes

68

arr (1–22)×2,(XY)×1^c

arr (1–22)×2,(XY)×1

Yes

69

arr (1–22)×2,(XY)×1^c

arr (1–22)×2,(XY)×1

Yes

NF^a

70

arr (1–22)×2,(XY)×1^f

arr (1–22)×2,(XY)×1

Yes