Table 3.
CNVs of uncertain significance detected in fetal CAKUT with normal karyotypes
| Case | CMA results | Size (Mb) | Prenatal ultrasound | Pathogenicity classification | Obstetrical outcomes | Inheritance |
|---|---|---|---|---|---|---|
| G9728 | arr[hg19]9q21.31q21.32(82 732 469‐85 502 241)×1 | 2.7 | Unilateral polycystic kidney dysplasia | VOUS | TD | Not available |
| P4876 | Arr[hg19]22q11.21(20 730 143‐21 800 471)×3 | 1.0 | Unilateral polycystic kidney dysplasia | VOUS | TD | De novo |
| P4877 | Arr[hg19]22q11.21(20 730 143‐21 800 471)×3 | 1.0 | Unilateral polycystic kidney dysplasia | VOUS | TD | De novo |
| E2657 | arr[hg19]2q11.1q11.2(96 679 225‐97 669 032)×1 | 0.97 | Hydronephrosis | VOUS | TD | Not available |
| E2797 | arr[hg19]16p13.11(15 325 072‐16 272 403)×3 | 0.92 | Unilateral polycystic kidney dysplasia, URSMS, | VOUS | TP | Not available |
| S19 | arr[hg19]11p15.1p14.3(20 745 930‐21 780 075)×3 | 1.0 | Hydronephrosis; widening of left lateral ventricle | VOUS | TD | De novo |
| P1287 | arr[hg19]10q21.1(59 095 330‐60 684 488)×1 | 1.5 | Hydronephrosis; VSD | VOUS | TD | Maternal |
Abbrevations: TD, term delivery; TP, termination of pregnancy; URSMS, urorectal septum malformation sequence; VSD, ventricular septal defect; VOUS, variation of uncertain clinical significance.