1
|
short femur
|
arr[hg19]17q21.31(41,774,473 − 42,491,805) × 4
|
P
|
0.7
|
TP
|
2
|
short femur
|
arr[hg19] 10q21.3(68,972,662 − 69,925,900)x1
|
P
|
0.9
|
TP
|
3
|
short femur
|
arr[hg19]4q28.3q31.3(133,718,289 − 154,569,367)hmz
|
VUS
|
20.8
|
TD
|
4
|
short femur
|
arr[hg19] 15q13.3(32,003,537 − 32,444,043)x3
|
VUS
|
0.4
|
TP
|
5
|
thickened nuchal translucency
|
arr[hg19]22q11.21(18,648,855 − 21,459,713)×3
|
P
|
2.8
|
TP
|
6
|
thickened nuchal translucency
|
arr[hg19]Yq11.222q11.223(20,252,055 − 25,863,576)×0
|
P
|
5.6
|
TP
|
7
|
thickened nuchal translucency
|
arr[hg19] 22q11.21(18,648,855 − 21,800,471)x3
|
p
|
3.1
|
TP
|
8
|
thickened nuchal translucency
|
arr[hg19] 3q29(195,678,474 − 197,340,833)x1
|
p
|
1.6
|
TP
|
9
|
thickened nuchal translucency
|
arr[hg19] 1p31.3(61,886,890 − 63,701,576)x1
|
P
|
1.8
|
TP
|
10
|
thickened nuchal translucency
|
arr[hg19] 22q11.21(20,730,143 − 21,800,471)x3
|
P
|
1.0
|
TP
|
11
|
thickened nuchal translucency
|
arr[hg19]1q21.1q21.2(145,829,473 − 148,520,164) × 1
|
P
|
2.7
|
TP
|
12
|
thickened nuchal translucency
|
arr[hg19]22q11.21(20,716,876 − 21,800,471) × 1
|
p
|
1.0
|
TP
|
13
|
thickened nuchal translucency
|
arr[hg19] 16p13.11(14,910,158 − 16,508,123)x1
|
P
|
1.6
|
TP
|
14
|
thickened nuchal translucency
|
arr[hg19] Xp22.31(6,449,836-8,141,076)x0,(XY)x1
|
P
|
1.7
|
TP
|
15
|
thickened nuchal translucency
|
arr[hg19] Xq28(153,560,562 − 153,826,362)x3
|
P
|
0.3
|
TP
|
16
|
thickened nuchal translucency
|
arr[hg19] 2p16.1(55,993,333 − 60,450,583)x3
|
VUS
|
4.5
|
TD
|
17
|
thickened nuchal translucency
|
arr[hg19] 19q13.42(53,717,606 − 54,656,213)x3
|
VUS
|
0.9
|
TD
|
18
|
thickened nuchal translucency
|
arr[hg19]Xq23(109,823,197 − 110,252,333) × 3
|
VUS
|
0.4
|
TD
|
19
|
thickened nuchal translucency
|
arr[hg19] 15q13.3(32,003,537 − 32,444,043)x3
|
VUS
|
0.4
|
TD
|
20
|
thickened nuchal translucency
|
arr[hg19] 10q21.1(53,477,821 − 55,138,122)x3
|
VUS
|
1.7
|
TD
|
21
|
thickened nuchal translucency
|
arr[hg19] 9q31.3(113,177,821 − 113,544,998)x1
|
VUS
|
0.4
|
TD
|
22
|
thickened nuchal translucency
|
arr[hg19] 1q21.1q21.2(144,077,593 − 148,750,533) hmz
arr[hg19] 3p21.31p21.1(48,166,782 − 53,172,233) hmz
arr[hg19] 5q21.3q22.1(107,196,975 − 110,478,806) hmz
arr[hg19] 12q21.31q21.33(82,446,525 − 91,707,400) hmz
arr[hg19] 14q31.2q32.12(84,339,970 − 92,755,472) hmz
arr[hg19] 15q24.1q25.3(73,065,223 − 87,467,262) hmz
arr[hg19] 16p13.3(94,807-3,112,982) hmz
arr[hg19] 17p12p11.2(15,838,698 − 22,170,994) hmz
|
VUS
|
99
|
TD
|
23
|
ventriculomegaly
|
arr[hg19]16p11.2(29,567,296 − 30,190,029) × 1
|
P
|
0.6
|
TP
|
24
|
ventriculomegaly
|
arr[hg19]5q35.2q35.3(175,416,095–177,482,506)×1
|
P
|
2.0
|
TP
|
25
|
ventriculomegaly
|
arr[hg19]Xq28(152,446,333 − 153,581,657) × 3,
1p36.33p36.23(849,466–592,172) × 1,
1q44(246,015,892 − 249,224,684) × 3
|
P
|
1.1, 7.7
3.2
|
TP
|
26
|
ventriculomegaly
|
arr[hg19]1q21.1(145,375,770 − 145,770,627) × 1,
9p24.1(4,623,660-5,501,699)×3
|
P
|
0.7, 0.9
|
TP
|
27
|
ventriculomegaly
|
arr[hg19]3p22.1 (42,875,130 − 43,309,436) × 1
|
VUS
|
0.4
|
TP
|
28
|
ventriculomegaly
|
arr[hg19]2q36.1q36.2(224,459,152–225,330,583) × 3
|
VUS
|
0.9
|
TD
|
29
|
ventriculomegaly
|
arr[hg19]3p26.3(1,855,754-2,663,625) × 1
|
VUS
|
0.8
|
TD
|
30
|
ventriculomegaly
|
arr[hg19] 16p13.11(15,058,820 − 16,309,046)x3
|
VUS
|
1.3
|
TD
|
31
|
absent nasal bone
|
arr[hg19]15q13.2q13.3(30,386,398 − 32,444,261) × 1
|
P
|
2.0
|
TP
|
32
|
absent nasal bone
|
arr[hg19]16p12.2(21,816,542 − 22,710,614)x1
|
P
|
1.0
|
TP
|
33
|
absent nasal bone
|
arr[hg19] 15q13.3(32,021,609 − 32,444,043)x3
|
VUS
|
0.4
|
TD
|
34
|
absent nasal bone
|
arr[hg19] 15q11.2(22,770,421 − 23,276,833)x1
|
VUS
|
0.5
|
TD
|
35
|
absent nasal bone
|
arr[hg19] 16p13.13p13.12(11,528,493 − 12,934,811)x3
|
VUS
|
1.4
|
TD
|
36
|
hyperechogenic bowel
|
arr[hg19]22q13.33(49,683,904 − 51,197,766) × 1
|
P
|
3.1
|
TP
|
37
|
hyperechogenic bowel
|
arr[hg19]10q11.21q11.22(42,433,738 − 48,006,310) × 1
|
P
|
5.5
|
TP
|
38
|
hyperechogenic bowel
|
arr[hg19]16p13.11(15,171,146 − 16,309,046) × 3
|
VUS
|
1.1
|
TD
|
39
|
choroid plexus cyst
|
arr[hg19]22q11.21(18,648,855 − 21,800,471) × 1
|
P
|
3.1
|
TP
|
40
|
choroid plexus cyst
|
arr[hg19] 15q13.3(32,011,458 − 32,444,043)x3
|
VUS
|
0.4
|
TD
|
41
|
choroid plexus cyst
|
arr[hg19]8p23.2(3,703,883-5,940,433) × 3
|
VUS
|
2.2
|
TD
|
42
|
choroid plexus cyst
|
arr[hg19] 20q13.2(53,545,723 − 54,866,110)x3
|
VUS
|
1.3
|
TD
|
43
|
mild tricuspid regurgitation
|
arr[hg19] 1q21.1(145,287,532 − 145,966,117)x3
|
P
|
0.7
|
TP
|
44
|
mild tricuspid regurgitation
|
arr[hg19]16p13.11(15,510,512 − 16,309,046) × 3
|
VUS
|
0.8
|
TD
|
45
|
echogenic intracardiac focus
|
arr[hg19] 17q12(34,440,088 − 36,351,919)x3
|
P
|
1.9
|
TP
|
46
|
right subclavian vagus, echogenic intracardiac focus
|
arr[hg19]22q11.21(18,648,855 − 21,800,471)×1
|
P
|
3.1
|
TP
|
47
|
cavity of septum pellucidum, amniotic fluid is excessive
|
arr[hg19] 17p12(14,099,504 − 15,491,533)x1
|
P
|
1.3
|
TP
|
48
|
echogenic intracardiac focus, pyelectasis
|
arr[hg19] 6p21.32p21.31(32,965,747 − 35,234,269)x3
|
P
|
2.2
|
TP
|
49
|
absent nasal bone,
echogenic intracardiac focus
|
arr[hg19] 17p12(14,070,219 − 15,484,335)x1
|
P
|
1.4
|
TP
|
50
|
absent nasal bone, pyelectasis
|
arr[hg19] 2p22.3(34,002,379 − 35,076,738)x3
|
VUS
|
1.0
|
TD
|
51
|
mild tricuspid regurgitation, pericardial effusion
|
arr[hg19]5p15.33p15.31(4,482,234-6,636,035) × 1
|
P
|
2.1
|
TP
|
52
|
short femur, hyperechogenic bowel
|
arr[hg19]10q11.22q11.23(46,252,072 − 51,903,756) × 1
|
P
|
5.6
|
TP
|
53
|
mild tricuspid regurgitation, hyperechogenic bowel
|
arr[hg19]15q11.2(22,770,421 − 23,286,423) × 1
|
VUS
|
0.5
|
TD
|
54
|
mild tricuspid regurgitation, echogenic intracardiac focus
|
arr[hg19] 15q11.2(22,770,421 − 23,277,436)x1
|
VUS
|
0.5
|
TD
|
55
|
mild tricuspid regurgitation, echogenic intracardiac focus
|
arr[hg19] Xp22.33 or Yp11.32(387,396–629,998 or 337,396–579,998)x1
|
P
|
0.2
|
TP
|
56
|
echogenic intracardiac focus, ventriculomegaly
|
arr[hg19] 16p13.11(15,422,960 − 16,508,123)x1
|
P
|
1.0
|
TP
|
57
|
single umbilical artery,
mild tricuspid regurgitation
|
arr[hg19] 1q21.1q21.2(145,084,525 − 147,885,600)x1
|
P
|
2.8
|
TP
|
58
|
echogenic intracardiac focus, mild tricuspid regurgitation
|
arr[hg19] Xp22.33 or Yp11.32(168,551–629,999 or 118,551–579,999)x1
|
P
|
0.5
|
TP
|
59
|
hyperechogenic bowel,
mild tricuspid regurgitation
|
arr[hg19] 16p13.11(15,058,820 − 16,309,046)x3
|
VUS
|
1.25
|
TD
|
60
|
hyperechogenic bowel,
enlargement of intestinal canal
|
arr[hg19] 16p13.11(14,900,042 − 16,508,123)x3
|
VUS
|
1.6
|
TD
|
61
|
ventriculomegaly,
choroid plexus cyst
|
arr[hg19]14q21.2q21.3(46,782,405 − 49,288,860) × 1
|
VUS
|
2.5
|
TP
|
62
|
Ventriculomegaly, short femur
|
arr[hg19]3q26.1q29(163,256,369 − 197,791,601)hmz
arr[hg19]5p13.1p11(41,029,137 − 46,313,469)hmz
arr[hg19]6q24.2q25(143,341,406 − 161,527,784)hmz
arr[hg19]12q13.2q21.2(56,011,100 − 77,134,151)hmz
arr[hg19]17q21.2q21.32(39,639,602 − 45,479,706)hmz
arr[hg19]21q21.3q22.2(28,124,165 − 42,352,287)hmz
|
VUS
|
99.1
|
TD
|
63
|
ventriculomegaly,
echogenic intracardiac focus
|
arr[hg19]10q24.31q24.32(102,972,457 − 103,179,063) × 3
|
VUS
|
0.2
|
TD
|
64
|
mild tricuspid regurgitation, pyelectasis
|
arr[hg19]13q14.3(52,649,105 − 53,172,866) × 3
|
VUS
|
0.5
|
TD
|
65
|
thickened nuchal translucency, thickening of skin in chest and abdomen
|
arr[hg19]1p33p32.3(50,051,514 − 53,274,566) hmz
arr[hg19]2q23.3q24.1(153,771,280 − 158,783,675) hmz
arr[hg19]3q21.2q22.1(124,817,983 − 129,317,745) hmz
arr[hg19]3q22.1q23(133,262,566 − 139,418,898) hmz
arr[hg19]3q26.1q26.2(161,540,639 − 168,592,236) hmz
arr[hg19]7p22.3p21.2(2,707,569 − 13,857,235) hmz
arr[hg19]8q23.3q24.12(114,788,423 − 119,897,611) hmz
arr[hg19]9p22.1p13.3(19,696,747 − 36,125,149) hmz
arr[hg19]11q12.2q12.3(60,193,879 − 63,210,491) hmz
arr[hg19]11p11.2p11.21(45,781,075 − 51,550,787) hmz
arr[hg19]17q21.31q21.32(41,647,165 − 44,927,874) hmz
arr[hg19]17q25.1q25.3(71,965,953 − 75,785,426) hmz
arr[hg19]20p11.23p11.21(20,268,153 − 23,275,237) hmz
|
VUS
|
77.5
|
-
|
66
|
thickened nuchal translucency, echogenic intracardiac focus, mild tricuspid regurgitation, hyperechogenic bowel
|
arr[hg19] 18q21.33q22.1(60,147,532 − 65,974,912)x1 hmz
|
P
|
5.8
|
TP
|
67
|
echogenic intracardiac focus, mild tricuspid regurgitation, pyelectasis
|
arr[hg19] 6q21(106,385,070–109,072,236)x3
|
VUS
|
2.6
|
TD
|
68
|
Ventriculomegaly, hyperechogenic bowel, echogenic intracardiac focus
|
arr[hg19]16p11.2(28,810,324 − 29,032,280) × 1
|
P
|
0.2
|
TP
|
69
|
echogenic intracardiac focus, mild tricuspid regurgitation, short femur
|
arr[hg19] 22q11.21(21,059,669 − 21,800,471)x1
|
P
|
0.4
|
TP
|