Table 2 Abnormal karyotyping results of VSD fetuses
From: Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
Case | Karyotype | CMA results | Prenatal ultrasound | Postnatal outcome |
|---|---|---|---|---|
1 | 47,XX,+ 18 | arr[hg19](18) × 3 | VSD; Posterior fossa widening; Single umbilical artery | TP |
2 | 47,XX,+ 18 | arr[hg19](18) × 3 | VSD; TS; FGR | TP |
3 | 47,XX,+ 18 | arr[hg19](18) × 3 | VSD; ARA; TS; Absence of nasal bone | TP |
4 | 47,XY,+ 18 | arr[hg19](18) × 3 | VSD; Single umbilical artery; FGR | TP |
5 | 47,XY,+ 18 | arr[hg19](18) × 3 | VSD; FGR; Absence of nasal bone; Overriding fingers | TP |
6 | 47,XY,+ 21 | arr[hg19](21) × 3 | VSD; ARA; PVS; Absence of nasal bone | TP |
7 | 47,XY,+ 21 | arr[hg19](21) × 3 | VSD; TGA | TP |
8 | 47,XY,+ 13 | arr[hg19](13) × 3 | VSD; COA; LSVC; Single umbilical artery | TP |
9 | 47,XXY | arr[hg19](1–22) × 2,(XXY) × 1 | VSD; FGR | TP |
10 | 46,XX,-18,+mar | arr[hg19]18p11.32p11.31(136,227-3,348,254) × 1,18p11.31p11.21(3,350,736-13,083,388) × 3 | VSD; COA; PVS; AOO | TP |
11 | 46,XY,del,(4)(q25q28) | arr[hg19]4q25q28.1(112,192,577-127,874,789) × 1 | VSD; widening of left lateral ventricle | TP |
12 | 46,XY,add(16)(p13.3) | arr[hg19]16P13.3(85,880-536,631) × 1,17q24.2q25.3(64,966,574-81,041,823) × 3 | VSD; LSVC; widening of left lateral ventricle | TP |
13 | 47,XY,add(22)(q11.1) | arr[hg19]22q11.1q11.21(16,888,899-18,649,190) × 4 | VSD; HA; Single umbilical artery | TP |
14 | 46,XX,add(8)(q21) | arr[hg19]8q21.2q23.3(86,553,128-114,877,447) × 3 | VSD; PTA | TP |
15 | 46,XX,inv.(9)(p12q13) | arr[hg19](1–22) × 2,(XX) × 1 | VSD; choroid plexus cysts | TD |
16 | 46,XY,13p+ | arr[hg19](1–22) × 2,(XY) × 1 | VSD | TD |