Table 3 The pathogenic copy number variation in ultrasonically abnormal fetuses.
From: Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes
Case | CC week | SNP array | Size (Mb) | Indication | Interpretation | Outcome |
|---|---|---|---|---|---|---|
1 | 28+6 | Chr22: 18,648,855–21,800,471 | 3.1 | CHD, thymic dysplasia | Pathogenic: loss 22q11.2 (22q11deletion syndrome) | Termination of pregnancy |
2 | 29 | Chr22: 20,730,143–21,800,471 | 1.0 | Multiple cysts of the left choroid plexus, renal cysts of the left, and varus | Pathogenic: loss 22q11.2 (22q11deletion syndrome) | Termination of pregnancy |
3 | 33+5 | Chr22: 18,916,842–21,800,471 | 2.9 | VSD; Mirror-image right aortic arch | Pathogenic: loss 22q11.2 (22q11deletion syndrome) | Termination of pregnancy |
4 | 32+3 | Chr22: 18,648,855–21,800,471 | 3.1 | VSD | Pathogenic: loss 22q11.2 (22q11deletion syndrome) | Termination of pregnancy |
5 | 28+1 | Chr22: 18,648,855–21,800,471 | 3.1 | VSD; right aortic arch | Pathogenic: loss 22q11.2 (22q11deletion syndrome) | Termination of pregnancy |
6 | 28+5 | Chr22: 49,683,904–51,197,766 | 3.1 | Echogenic bowel | Pathogenic: loss 22q13.33 (22q13 deletion syndrome) | Termination of pregnancy |
7 | 33+1 | Chr22: 18,649,189–21,800,471 | 3.1 | CHD: Oval valve bulging tumor | Pathogenic: gain 22q11.2 (22q11.2 duplication syndrome), de novo | Termination of pregnancy |
8 | 30 | Chr22: 18,648,855–21,459,713 | 2.8 | FGR | Pathogenic: gain 22q11.21 (22q11.2 duplication syndrome), inherited from mother | Normal delivery Good growth and development |
9 | 28+3 | Chr22: 18,648,855–21,800,471 | 3.1 | FGR | Pathogenic: gain 22q11.21 (22q11.2 duplication syndrome), inherited from father | Cesarean section Good growth and development |
10 | 28+3 | Chr22: 18,888,899–18,649,190 | 1.7 | VSD, persistent left superior vena cava | Pathogenic: gain 22q11.1q11.21 (cat eye syndrome) | Termination of pregnancy |
11 | 28+4 | Chr17: 34,822,465–36,404, 555 | 1.58 | Double kidney echo enhancement | Pathogenic: loss 17q12 (17q12 deletion syndrome) | Termination of pregnancy |
12 | 28+ | Chr17: 34,822,465–36, 243,365 | 1.4 | Double kidney echo enhancement | Pathogenic: loss 17q12 (17q12 deletion syndrome) | Termination of pregnancy |
13 | 29+4 | Chr17: 34,822,465–36,307, 773 | 1.48 | Double kidney echo enhancement | Pathogenic: loss 17q12 (17q12 deletion syndrome) | Termination of pregnancy |
14 | 29+5 | Chr16: 28,810,324–29,032,280 | 0.22 | Lateral ventricle widening, echogenic bowel, Left ventricular hyperecho | Pathogenic: loss 16p11.2 (16p11.2 deletion syndrome), de novo | Termination of pregnancy |
15 | 31 | Chr16: 29,591,326–30,176,508 | 0.57 | Hydrocephalus | Pathogenic: loss 16p11.2 (16p11.2 deletion syndrome), de novo | Termination of pregnancy |
16 | 28+4 | Chr16: 29,580,020–30,190,029 | 0.60 | Spinal dysplasia | Pathogenic: loss 16p11.2 (16p11.2 deletion syndrome), de novo | Termination of pregnancy |
17 | 28 | Chr16: 29,567,296–30,190,029 | 0.6 | Lateral ventricle widening | Pathogenic: loss 16p11.2 (16p11.2 deletion syndrome), de novo | Termination of pregnancy |
18 | 33+1 | Chr15: 32,003,537–32,444,043 | 0.43 | VSD, Aortic ride across, pulmonary stenosis, | Pathogenic: gain 15q13.3, the triple dose effect score was 1, penetrance of 5–10% in ClinGen database | Normal delivery VSD |
19 | 37 | Chr15: 31,999,631–32,444,043 | 0.43 | Severe hydrocephalus | Pathogenic: gain 15q13.3, the triple dose effect score was 1, penetrance of 5–10% in ClinGen database | Termination of pregnancy |
20 | 29+6 | Chr15: 32,011,458–32,914,239 | 0.88 | Half vertebral body | Pathogenic: gain 15q13.3, The triple dose effect score was 1, penetrance of 5–10% in ClinGen database | Termination of pregnancy |
21 | 34 | Chr1: 145,958,361–147,830,830 | 1.8 | Lateral ventricle widening | Pathogenic: gain 1q21.1q21.2 (1q21.1 duplication syndrome) | Termination of pregnancy |
22 | 29+6 | Chr1: 145,995,176–147,398,268 | 1.4 | Pulmonary stenosis; hypoplastic right heart; Tricuspid stenosis with incomplete closure | Pathogenic: gain 1q21.1q21.2 (1q21.1 duplication syndrome) | Termination of pregnancy |
23 | 28+4 | Chr7: 72,701,098–74,069,645 | 1.3 | VSD, unilateral renal agenesis | Pathogenic: gain 7q11.23 (7q11.23 duplication syndrome) | Termination of pregnancy |
24 | 32+6 | Chr7: 72,723,370–74,143,240 | 1.42 | FGR | Pathogenic: gain 7q11.23 (7q11.23 duplication syndrome) | Termination of pregnancy |
25 | 29+2 | Chr17: 525–5,204,373 | 5.2 | Bilateral ventricle widening,Strephenopodia, cerebellum entricular dysplasia | Pathogenic: loss 17p13.3p13.2, (Miller-Dieker syndrome) | Termination of pregnancy |
26 | 30+4 | Chr17: 14,083,054–15,482,833 | 1.4 | Left renal dysplasia | Pathogenic: loss 17p12, Hereditary stress susceptibility peripheral neuropathy, Inherited from mother | Termination of pregnancy |
27 | 34+1 | Chr4: 68,345–6,608,624 | 6.5 | FGR, pulmonary stenosis | Pathogenic: loss 4p16.3p16.1 (Wolf-Hirschhorn syndrome) | Termination of pregnancy |
28 | 28+4 | Chr3: 195,743,957–197,386,180 | 1.6 | VSD | Pathogenic: gain 3q29 (3q29 duplication syndrome) | Termination of pregnancy |
29 | 31+6 | Chr5: 175,416,095–177,482,506 | 2.0 | Polyhydramnios | Pathogenic: loss 5q35.2q35.3 (Sotos syndrome) | Termination of pregnancy |
30 | 29 | ChrX; Chr1: 152,446,333–153,581,657 | 1.1 | Bilateral ventricular walls are rough and echo is enhanced | Pathogenic: gain Xq28, 1q44, loss 1p36.33p36.23 (1p36 deletion syndrome) | Termination of pregnancy |
849,466–592,172 | 7.7 | |||||
246,015,892–249,224,684 | 3.2 | |||||
31 | 33+1 | Chr10: 46,252,072–51,903,756 | 5.6 | FGR | Pathogenic: gain 10q11.22q11.23, reports in the DGV database, de novo | Termination of pregnancy |
32 | 32+6 | Chr15: 35,077,111–54,347,324 | 19.2 | FGR | Pathogenic: uniparental disomy, Inherited from mother (Prader–Willi syndrome) | Termination of pregnancy |
