Table 3.

Frequency of CHDs in different genetic syndromes

Echocardiac findings	Genetic Disorders
	Trisomy 21(n = 89)	Trisomy 18(n = 7)	Trisomy 13(n = 4)	Cat Eye (n = 2)	Turner (n = 1)	Williams (n = 1)	Di George (n = 1)	Deletion 13qter (n = 1)	Noonan (n = 4)	Poland (n = 1)	Cornelia de Lange (n = 1)	Fraser (n = 1)	Normal karyotype & MLPA	Frequency of CHD type
Isolated CHD (N = 48)
ASD	3	-	-	-	-	-	-	-	1	-	-	-	-	4
AVSD	4	-	-	-	-	-	-	-	1	-	-	-	-	5
CoA	-	-	-	-	1	-	-	-	-	-	-	-	-	1
Dextrocardia	1	-	-	-	-	-	-	-	-	1	-	-	-	2
MVP	-	-	-	-	-	1	-	-	-	-	-	-	-	1
PDA	13	-	1	-	-	-	-	-	-	-	-	-	-	14
PS	1	-	-	-	-	-	-	-	1	-	-	-	-	2
TOF	2	1	-	-	-	-	1	-	-	-	-	-	-	4
TA	1	-	1	-	-	-	-	-	-	-	-	-	-	2
VSD	9	3	1	-	-	-	-	-	-	-	-	-	-	13
Sub Total														48
Associated CHD (N = 16)
ASD + TA	4	1	-	-	-	-	-	-	-	-	-	-	-	5
PDA + VSD	9	-	1	-	-	-	-	-	-	-	-	-	-	10
VSD + PS	1	-	-	-	-	-	-	-	-	-	-	-	-	1
Sub Total														16
Absence of CHD (N = 61)
Patients with normal
Echocardiography	41	2	0	2	0	0	0	1	1	0	1	1	12	61
Sub Total														61
TOTAL														125

n = number of patients with genetic defect; N =frequence number of CHD types; ASD = Atrial Septal Defect; AVSD = Atrioventricular Septal Defect; CoA = Coarctation of Aorta; MVP =Mitral Valve Prolapse; PDA = Patent Ductus Arteriosus; PS = Pulmonary Stenosis; TOF = Tetralogy of Fallot; TA = Truncus Arteriosus; VSD = Ventricular Septal Defect