Table 3 True fetal mosaicisms confirmed based on the consistency between karyotyping and CMA results from AF or CB

1

39

19

AMA; echogenic fetal bowel

Increased chr2

AF: arr(2) × 3[0.1]

AF: mos47,XN, + 2[8]/46,XN[19]

Premature delivery

4

29

23

High risk of MSS; coarctation of aorta; SUA; PLSVC; rocker-bottom foot

Increased chr2

AF: arr(2) × 3[0.22]

AF: mos 47,XN, + 2[2]/46,XN[33];

nuc ish(D2Z1X3,BCRX2) [6/100]

TOP

6

42

18

AMA; high risk of MSS

–

AF: arr(2) × 3[0.45]

AF: mos 47,XN, + 2[1]/46,XN[24]

TOP

17

31

16

–

Increased chr7

AF: arr(7) × 3[0.1]

AF: mos 47,XN, + 7[2]/46,XN[16]

TOP

20

28

23

Mild fetal ventriculomegaly; short femur length; atrial septal aneurysm; foot varus

–

AF: arr(7) × 3[0.3]

AF: mos 47,XN, + 7[4]/46,XN[18]

TOP

25

42

23

AMA; renal echo enhancement; echogenic intracardiac focus; left ureteral dilatation

–

AF: arr(9) × 3[0.4]

AF: 47,XN, + 9[6]/46,XN[18];

CB: mos 47,XN, + 9[2]/46,XN[98]

Live born

26

37

23

AMA; short femur length; SUA; diaphragmatic hernia

–

AF: arr(9) × 3[0.36]

AF: mos47,XN, + 9[7]/46,XN[15]

TOP

28

30

20

High risk of MSS; absent gallbladder

High risk of NIPS for chromosome 21

AF: arr(9) × 3[0.24]

AF: mos 47,XN, + 9[5]/46,XN[28]

TOP

29

28

19

PLSVC

Increased chr9

AF: arr(9) × 3[0.15]

AF: mos 47,XN, + 9[10]/46,XN[21]

TOP

31

26

17

–

Increased chr9

AF: arr(9) × 3[0.45]

AF: mos 47,XN, + 9[12]/46,XN[8]

TOP

33

40

32

AMA; mild fetal ventriculomegaly; PLSVC

–

CB: arr(9) × 3[0.39]

CB: mos 47,XN, + 9[3]/46,XN[97]

TOP

36

31

15

-

Increased chr9

AF: arr(9) × 3[0.5]

AF: mos 47,XN, + 9[3]/46,XN[27]

TOP

38

40

13

AMA; thicken NT

–

CVS: arr(9) × 3 AF: arr(9) × 2–3[0.83]

CVS: mos 47,XY, + 9[3]/46,XX[35]

AF: mos 47,XN, + 9[10]/46,XN[20]

TOP

40

28

18

Adverse pregnancy history; high risk of MSS; thicken NT

Increased chr10

AF: arr(10) × 3[0.59]

AF: mos 47,XN, + 10[4]/46,XN[32]

TOP

42

20

23

Coarctation of aorta; hypoplastic aortic arch

–

AF: arr(12) × 3[0.39]

AF: mos 47,XY, + 12[1]/46,XY[31]

Liveborn

57

35

23

AMA; high risk of MSS; ventricular septal defect; total abnormal pulmonary venous drainage

Increased chr16

AF: arr(16) × 3[0.1]

AF: mos 47,XN, + 16[4]/46,XN[17]

Postnatal death

67

29

16

–

Increased chr16

AF: arr(16) × 3[0.15]

AF: Normal (Karyotyping);

nuc ish (D16Z3 × 3,BCR × 2)[15/100]

TOP

68

33

18

High risk of MSS

Increased chr16

AF: arr(16) × 3[0.2]

AF: mos 47,XN, + 16[1]/46,XN[25];

nuc ish (D16Z3 × 3,BCR × 2)[37/100]

TOP

71

32

20

High risk of MSS; IUGR; butterfly vertebra

Increased chr16

AF: arr(16) × 3[0.34]

AF: mos47,XN, + 16[1]/46,XN[19];

nuc ish (D16Z3 × 3, BCR × 2) [15] / (D16Z3 × 2, BCR × 2) [185];

CB: Normal (Karyotyping);

nuc ish (D16Z3 × 3, BCR × 2) [7] /(D16Z3 × 2, BCR × 2) [193]

TOP

75

36

20

AMA

Increased chr22

AF: arr(22) × 3[0.15]

AF: mos47,XN, + 22[2]/46,XN[18]

Premature delivery