Table 2.
Detection results and ultrasonography findings of 14 fetuses with CNVs
| Cases | Maternal age | Karyotype result | SNP result | Size | Ultrasound findings | Clinical significance | Pregnancy outcomes |
|---|---|---|---|---|---|---|---|
| Variants of pathogenic or likely pathogenic | |||||||
| 1 | 25 | 46,XY | arr[GRCh37]15q11.2(22,770,422–23,082,231)×1 | 312Kb | Isolated unilateral TE | Pathogenic | Continued gestation |
| 2 | 38 | 46,XY | arr[GRCh37]22q11.21(18,631,365–21,464,764) ×1 | 1.74 Mb | Isolated unilateral TE | Pathogenic | TOP |
| 3 | 28 | 47,XX,+mar | arr[GRCh37]5p15.33p11(1,135,760–46,242,541) ×3 | 46.1 Mb | Bilateral TE + decreased FL/BPD and FL/HC ratios; small bust size; increased cardiothoracic ratio; cardiac axis to the left; inner diameter of the left and right pulmonary artery branches was narrowed; mild tricuspid and pulmonary valve regurgitation; increased echo of parenchyma of both kidneys; intestinal hyperechogenicity | Pathogenic | TOP |
| 4 | 24 | 46,XY | arr[GRCh37]7q11.23(72,608,900–74,242,167) ×3 | 1.6 Mb | Bilateral TE + mild tricuspid regurgitation | Pathogenic | TOP |
| 5 | 28 | 46,XY | arr[GRCh37]16p11.2(29,591,326–30,176,508) ×1 | 585 kb | Unilateral TE + absence of bilateral kidneys; oligoamnios | Pathogenic | TOP |
| 6 | 30 | 46,XY | arr[GRCh37]17p12p11.2(15,759,453–20,547,625) ×3 | 4.7 Mb | Unilateral TE + variation of blood vessels; right subclavian artery vagal | Pathogenic | Live birth; normal physical development; nonverbal; hyperactive. |
| 7 | 27 | 46,XY | arr[GRCh37]17p13.3p13.2(525-5204373) ×1 | 5.2 Mb | Bilateral TE + ventriculomegaly; cerebellar vermis dysplasia; smaller magenblase; hydramnios | Pathogenic | TOP |
| 8 | 28 | 47,XX,+i(18)(p10) | arr[GRCh37]18p11.32p11.21(136227-15143715)×4 | 15.0 Mb | Bilateral TE + ECD; right subclavian artery vagal | Pathogenic | TOP |
| 9 | 39 | 46,XY | arr[GRCh37]22q11.21(20,730,143–21,800,471) ×1 | 1.0 Mb | Bilateral TE + CPC; renal pelvis cysts; hydramnios | Pathogenic | TOP |
| 10 | 38 | 46,XY | arr[GRCh37]22q11.21(18,636,749–21,464,764)x1 | 2.8 Mb | Unilateral TE + increased echo of ventricular | Pathogenic | TOP |
| Variants of benign or likely benign | |||||||
| 11 | 34 | 46,XY | arr[GRCh37]8q24.22q24.3(135,106,599–140,610,869) ×3 | 5.5 Mb | Bilateral TE + abnormal hand posture; increased NF thickness, | Likely benign | TOP |
| Variants of unknown significance | |||||||
| 12 | 31 | 46,XX | arr[GRCh37]8q24.11(118,225,220–118,884,779)x3 | 659.5Kb | Bilateral TE + micromandible | VOUS | TOP |
| 13 | 27 | 46,XY | arr[GRCh37]13q14.3(52,649,105–53,172,866) ×3 | 524Kb | Bilateral TE + mild tricuspid regurgitation; slight separation of bilateral renal collecting system | VOUS | TOP |
| 14 | 28 | 46,XY | arr[GRCh37]Xq28(154,748,825–154,828,315)x0 | 79.4Kb | Bilateral TE + separation of bilateral renal pelvis | VOUS | Live birth; bilateral TE |
TOP: termination of pregnancy; FL: femur length; BPD: biparietal diameter; HC: head circumference; NF: nuchal fold; NT: nuchal translucency; ECD: endocardial cushion defect; CPC: choroid plexus cysts; CoA: coarctation of the aorta; SUA: single umbilical artery; VSD: ventricular septal defect; AC: abdomen circumference; SD: standard deviations; HL: humerus length; PLSVC: persistent left superior vena cava; CSP: cavity of septum pellucidum;