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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
  1. AOO augmentation of oval, ARA aortic ride across, COA coarctation of the aorta, CMA chromosomal microarray analysis, FGR fetal growth restriction, HA hypoplastic aorta, HLHS hypoplastic left heart syndrome, LSVC left superior vena cava, PTA persistent truncus arteriosis, PVS pulmonary valve stenosis, SV single ventricle, TD term delivery, TGA transposition of the great arteries, TP termination of pregnancy, TS tricuspid stenosis, VSD ventricular septal defect