Table 3.
case | CMA results | Size (Mb) | Prenatal ultrasound | Pathogenicity classification | Obstetrical outcomes | Inheritance |
---|---|---|---|---|---|---|
11 | arr[hg19]22q11.21 (20,730,143-21,800,471) × 1 | 1.0 | left renal dysplasia; Left choroid plexus cyst; strephenopodia | P | TP | de novo |
12 | arr[hg19]16q23.2q24.3 (79,800,878-90,146,366)hmz,16p13.3p12.3 (94,807-19,302,326)hmz | 10.3 | left renal agenesis; VSD; PVS; FGR | p | TP | UPD |
13 | arr[hg19]4p16.3p15.1 (68,345-35,252,743) × 1 | 35 | renal hypoplasia;FGR; nasal bone dysplasia | P | TP | de novo |
14 | arr[hg19]7q11.23 (72,701,098-74,069,645) × 3 | 1.3 | left renal agenesis, VSD; | P | TP | de novo |
15 | arr[hg19]16p13.11 (15,325,072-16,272,403) × 3 | 0.92 | left renal dysplasia;URSMS | VUS | TP | de novo |
FGR Fetal growth restriction, p Pathogenic, PVS Pulmonary valve stenosis, TP Termination of pregnancy, UPD Uniparental disomy, URSMS Urorectal septum malformation sequence, VSD Ventricular septal defect, VUS Variation of uncertain clinical significance