Table 1.

Aneuploidity and congenital heart defects.

Chromosomal Aberration	Frequency a	Association with Congenital Heart Defects	CHD Frequency in
Trisomy 21 (Down Syndrome)	1 : 700	ASD, AVSD, TOF, VSD	50 %
Trisomy 13 (Patau Syndrome)	1 – 2 : 10.000	ASD, HLHS, PDA, VSD	80 %
Trisomy 18 (Edwards Syndrome)	1 : 2.500	ASD, BAV, CoA, DORV, PDA, TOF, VSD	> 90 %
Monosomy X (Turner Syndrome)	1 : 2.500	AoS, BAV, CoA, HLHS	33 %
47, XXY (Klinefelter Syndrome)	1 – 2 : 1.000	ASD, MVP, PDA	50 %

^a: per live births. Adapted from [31].

^AoS:aortic stenosis, ASD: atrial septal defect, AVSD: atrioventricular septal defect, BAV: bicuspid aortic valve, CoA: coarctation of the aorta, DORV: double-outlet right ventricle, HLHS: hypoplastic left heart syndrome, MVP: mitral valve prolapse, PDA: patent ductus arteriosus, TOF: tetralogy of Fallot, VSD: ventricular septal defect.