Table 4 Abnormal CNVs in fetuses with ultrasonic soft marker
Case | Indication | SNP array | Interpretation | Size Mb | Outcome | Inheritance |
|---|---|---|---|---|---|---|
1 | Short femur | arr[hg19]17q21.31(41,774,473–42,491,805) × 4 | P | 0.7 | TP | Denovo |
2 | Short femur | arr[hg19] 10q21.3(68,972,662–69,925,900) × 1 | P | 0.9 | TP | Denovo |
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) × 3 | VUS | 0.4 | TP | Denovo |
5 | Thickened nuchal translucency | arr[hg19]22q11.21(18,648,855–21,459,713) × 3 | P | 2.8 | TP | Maternal |
6 | Thickened nuchal translucency | arr[hg19]Yq11.222q11.223(20,252,055–25,863,576) × 0 | P | 5.6 | TP | Denovo |
7 | Thickened nuchal translucency | arr[hg19] 22q11.21(18,648,855–21,800,471) × 3 | p | 3.1 | TP | Denovo |
8 | Thickened nuchal translucency | arr[hg19] 3q29(195,678,474–197,340,833) × 1 | p | 1.6 | TP | Denovo |
9 | Thickened nuchal translucency | arr[hg19] 1p31.3(61,886,890–63,701,576) × 1 | P | 1.8 | TP | Denovo |
10 | Thickened nuchal translucency | arr[hg19] 22q11.21(20,730,143–21,800,471) × 3 | P | 1.0 | TP | Denovo |
11 | Thickened nuchal translucency | arr[hg19]1q21.1q21.2(145,829,473–148,520,164) × 1 | P | 2.7 | TP | Denovo |
12 | Thickened nuchal translucency | arr[hg19]22q11.21(20,716,876–21,800,471) × 1 | p | 1.0 | TP | Denovo |
13 | Thickened nuchal translucency | arr[hg19] 16p13.11(14,910,158–16,508,123) × 1 | P | 1.6 | TP | Denovo |
14 | Thickened nuchal translucency | arr[hg19] Xp22.31(6,449,836–8,141,076) × 0, (XY) × 1 | P | 1.7 | TP | Denovo |
15 | Thickened nuchal translucency | arr[hg19] Xq28(153,560,562–153,826,362) × 3 | P | 0.3 | TP | Denovo |
16 | Thickened nuchal translucency | arr[hg19] 2p16.1(55,993,333–60,450,583) × 3 | VUS | 4.5 | TD | – |
17 | Thickened nuchal translucency | arr[hg19] 19q13.42(53,717,606–54,656,213) × 3 | VUS | 0.9 | TD | Denovo |
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) × 3 | VUS | 0.4 | TD | Denovo |
20 | Thickened nuchal translucency | arr[hg19] 10q21.1(53,477,821–55,138,122) × 3 | VUS | 1.7 | TD | Denovo |
21 | Thickened nuchal translucency | arr[hg19] 9q31.3(113,177,821–113,544,998) × 1 | 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 | Denovo |
24 | Ventriculomegaly | arr[hg19]5q35.2q35.3(175,416,095–177,482,506) × 1 | P | 2.0 | TP | Denovo |
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 | Denovo |
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 | Denovo |
27 | Ventriculomegaly | arr[hg19]3p22.1 (42,875,130–43,309,436) × 1 | VUS | 0.4 | TP | Denovo |
28 | Ventriculomegaly | arr[hg19]2q36.1q36.2(224,459,152–225,330,583) × 3 | VUS | 0.9 | TD | Denovo |
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) × 3 | VUS | 1.3 | TD | – |
31 | Absent nasal bone | arr[hg19]15q13.2q13.3(30,386,398–32,444,261) × 1 | P | 2.0 | TP | Denovo |
32 | Absent nasal bone | arr[hg19]16p12.2(21,816,542–22,710,614) × 1 | P | 1.0 | TP | Denovo |
33 | Absent nasal bone | arr[hg19] 15q13.3(32,021,609–32,444,043) × 3 | VUS | 0.4 | TD | Denovo |
34 | Absent nasal bone | arr[hg19] 15q11.2(22,770,421–23,276,833) × 1 | VUS | 0.5 | TD | Paternal |
35 | Absent nasal bone | arr[hg19] 16p13.13p13.12(11,528,493–12,934,811) × 3 | VUS | 1.4 | TD | Maternal |
36 | Hyperechogenic bowel | arr[hg19]22q13.33(49,683,904–51,197,766) × 1 | P | 3.1 | TP | Denovo |
37 | Hyperechogenic bowel | arr[hg19]10q11.21q11.22(42,433,738–48,006,310) × 1 | P | 5.5 | TP | Denovo |
38 | Hyperechogenic bowel | arr[hg19]16p13.11(15,171,146–16,309,046) × 3 | VUS | 1.1 | TD | Paternal |
39 | Choroid plexus cyst | arr[hg19]22q11.21(18,648,855–21,800,471) × 1 | P | 3.1 | TP | Maternal |
40 | Choroid plexus cyst | arr[hg19] 15q13.3(32,011,458–32,444,043) × 3 | 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) × 3 | VUS | 1.3 | TD | Denovo |
43 | Mild tricuspid regurgitation | arr[hg19] 1q21.1(145,287,532–145,966,117) × 3 | P | 0.7 | TP | Paternal |
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) × 3 | P | 1.9 | TP | Paternal |
46 | Right subclavian vagus, echogenic intracardiac focus | arr[hg19]22q11.21(18,648,855–21,800,471) × 1 | P | 3.1 | TP | Denovo |
47 | Cavity of septum pellucidum, amniotic fluid is excessive | arr[hg19] 17p12(14,099,504–15,491,533) × 1 | P | 1.3 | TP | – |
48 | Echogenic intracardiac focus, pyelectasis | arr[hg19] 6p21.32p21.31(32,965,747–35,234,269) × 3 | P | 2.2 | TP | Denovo |
49 | Absent nasal bone, echogenic intracardiac focus | arr[hg19] 17p12(14,070,219–15,484,335) × 1 | P | 1.4 | TP | Denovo |
50 | Absent nasal bone, pyelectasis | arr[hg19] 2p22.3(34,002,379–35,076,738) × 3 | 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 | Denovo |
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 | Paternal |
54 | Mild tricuspid regurgitation, echogenic intracardiac focus | arr[hg19] 15q11.2(22,770,421–23,277,436) × 1 | VUS | 0.5 | TD | Denovo |
55 | Mild tricuspid regurgitation, echogenic intracardiac focus | arr[hg19] Xp22.33 or Yp11.32(387,396–629,998 or 337,396–579,998) × 1 | P | 0.2 | TP | Denovo |
56 | Echogenic intracardiac focus, ventriculomegaly | arr[hg19] 16p13.11(15,422,960–16,508,123) × 1 | P | 1.0 | TP | Denovo |
57 | Single umbilical artery, mild tricuspid regurgitation | arr[hg19] 1q21.1q21.2(145,084,525–147,885,600) × 1 | P | 2.8 | TP | Paternal |
58 | Echogenic intracardiac focus, mild tricuspid regurgitation | arr[hg19] Xp22.33 or Yp11.32(168,551–629,999 or 118,551–579,999) × 1 | P | 0.5 | TP | Denovo |
59 | Hyperechogenic bowel, mild tricuspid regurgitation | arr[hg19] 16p13.11(15,058,820–16,309,046) × 3 | VUS | 1.25 | TD | Denovo |
60 | Hyperechogenic bowel, enlargement of intestinal canal | arr[hg19] 16p13.11(14,900,042–16,508,123) × 3 | VUS | 1.6 | TD | Denovo |
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 | Denovo |
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) × 1 hmz | P | 5.8 | TP | – |
67 | Echogenic intracardiac focus, mild tricuspid regurgitation, pyelectasis | arr[hg19] 6q21(106,385,070–109,072,236) × 3 | VUS | 2.6 | TD | Denovo |
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) × 1 | P | 0.4 | TP | Denovo |