Table 1 Specific CNVs, origin, ultrasound findings in 18 low-penetrance pCNVs cases with TOP decisions.
No | CNV, size (Mb) | Origin | Prenatal ultrasound | Pregnancy outcomes |
|---|---|---|---|---|
1 | 1q21.1q21.2(144,691,143–147,825,547)x3, 3.1 Mb | De novo | Nasal bone dysplasia | TOP |
2 | 1q21.1q21.2(146,137,166−147,830,830)x1, 1.6 Mb | De novo | Single umbilical artery, ventricular bright spots | TOP |
3 | 16p11.2(29,634,212−30,332,203)x1, 0.7 Mb | De novo | NT = 0.41 cm | TOP |
4 | 17q12(34,822,465−36,243,365)x1, 1.4 Mb | De novo | Enhanced renal parenchymal echogenicity | TOP |
5 | 17q12(34,476,877−36,410,720)x1, 1.9 Mb | De novo | Enhanced renal parenchymal echogenicity | TOP |
6 | 16p11.2(29,428,532−30,190,029)x1, 0.7 Mb | Inherited | NT = 4.6 mm, diaphragmatic hernia | TOP |
7 | 16p11.2(29,412,503−30,327,917)x1, 0.9 Mb | Inherited | Omphalocele | TOP |
8 | 16p11.2(29,412,502−30,190,029)x3, 0.7 Mb | Inherited | Normal | TOP (voluntary abandon and planing for pre-implantation genetic testing) |
9 | 22q11.21(18970562–21800471)x3, 2.8 Mb | Inherited | Normal | TOP(voluntary abandon and already having a healthy child) |
10 | 1q21.1q21.2(146,096,700 − 147,831,170)x3, 1.7 Mb | Unknown | Right aortic arch | TOP |
11 | 15q11.2(22,770,422 − 23,082,237)x1, 0.3 Mb | Unknown | Widened left ventricle at 23 weeks and hypoplasia of corpus callosum at 28 weeks | TOP(pathogenic L1CAM variation detected by whole-exome sequencing) |
12 | 16p11.2(29,628,662 − 30,190,029)x3, 0.5 Mb | Unknown | Permanent right umbilical vein | TOP |
13 | 16p11.2(28,441,548 − 29,571,495)x1, 1.1 Mb | Unknown | Mild intrauterine growth restriction | TOP |
14 | 16p13.11p12.3(15,416,498 − 18,242,713)x1, 2.8 Mb | Unknown | Normal | TOP(voluntary abandon and already having a healthy child) |
15 | 16p13.11(14893699_16538596)x1,1.6 Mb | Unknown | The widened extracerebellar space | TOP |
16 | 17q12(34,822,465 − 36,243,365)x3,1.4 Mb | Unknown | Normal | TOP(voluntary abandon) |
17 | 22q11.21q11.23(21,059,669 − 24,629,406)x3, 3.5 Mb | Unknown | Normal | TOP(voluntary abandon) |
18 | 22q11.21(18,919,477 − 21,800,471)x3, 2.8 Mb | Unknown | Normal | TOP(voluntary abandon) |
