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Data expressed as overall rate of aneuploidy (percent) for individual congenital cardiac defects

Data expressed as overall rate of aneuploidy (percent) for individual congenital cardiac defects
Cardiac anomaly Overall aneuploid rate percent T 21 percent T 18 percent T 13 percent 45X0 percent Other percent 22q11 deletion
AVSD 46 79 13     8  
VSD 46 43 45 2 4 6 10 to 17
TOF 31 43 29 7   21 6 to 30
CoA 33 18 24 24 12 22  
CAT 19       25 75 10
IAAb             17 to 50
APVS 20            
HLHS 7   56 22 11 11  
DORV 21 10 40 20 30   1
Mitral atresia 18            
UVH 15            
PS/PA + IVS 5            
Tricuspid atresia 7            
TVD 4            
Aortic stenosis 5            
ASD 17            
TGA 0            
cTGA 0            
Tumours 0            
Cardiomyopathy 0            
Cardiosplenic syndromes 0            
DIV 0            
AVSD: atrioventricular septal defect; VSD: ventricular septal defect; TOF: tetralogy of Fallot; CoA: coarctation of the aorta; CAT: common arterial trunk; APVS: absent pulmonary valve syndrome; HLHS: hypoplastic left heart syndrome; DORV: double outlet right ventricle; UVH: univentricular heart; PS/PA + IVS: pulmonary stenosis/pulmonary atresia with intact ventricular septum; TVD: tricuspid valve dysplasia; ASD: atrial septal defect; TGA: transposition of the great arteries; cTGA: corrected transposition of the great arteries; DIV: double inlet ventricle; IAAb: interrupted aortic arch type B.
Adapted from studies by Allan et al. (Allan et al., 1994), Paladinin et al. (Paladini et al., 2002), Boldt et al. (Boldt et al., 2002) and Tennstedt et al. (Tennstedt et al., 1999). The incidence of individual types of aneuploidy as a percentage of the total number of aneuploid fetuses are adapted from Paladini et al. (Paladini, et al., 2002), Boldt et al. (Boldt et al., 2002) and Tennstedt et al. (Tennstedt et al., 1999). Incidence of 22q11 deletion adapted from Marino et al. (Marino et al., 2001), Yamagishi et al., 2000), McElhinney et al. (McHElhinney et al., 2003), Lewin et al., 1997) and Ryan et al. (Ryan et al., 1997).
Reproduced with permission from: Wimalasundera, RC, Gardiner, HM. Congenital heart disease and aneuploidy. Prenat Diagn 2004; 24:1116. Copyright © 2004 John Wiley &Sons.
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