A genetic counselor may be asked to give a risk estimate for recurrence of congenital heart disease in a new pregnancy if a sibling or parent is affected.
Recurrence Risk
Affected Relative
Anomaly
Sibling
Mother
Father
ventricular septal defect (VSD)
3%
6-10%
2%
patent ductus arteriosus (PDA)
3%
3.5-4%
2.5%
atrial septal defect (ASD)
2.5%
4.0-4.5%
1.5%
tetralogy of Fallot (TF)
2.5%
2.5%
1.5%
pulmonary stenosis (PS)
2%
4.0-6.5%
2%
coarctation of the aorta (CA)
2%
4%
2%
aortic stenosis (AS)
2%
13-18%
3%
transposition of the great arteries (TGA)
1.5%
NA
NA
atrioventricular canal
2%
14%
1%
endocardial fibroelastosis
4%
NA
NA
tricuspid atresia
1%
NA
NA
Ebstein anomaly
1%
NA
NA
truncus arteriosus
1%
NA
NA
PA
1%
NA
NA
hypoplastic left heart
2%
NA
NA
where:
• In Table 2.7 (Nora, 1989) the maternal risk for VSD is given as 6% and tetralogy of Fallot as 6-10%. This table is supposed to be a copy of Table IV (Nora, 1987). This table gives the maternal risks listed above.
• I will assume that PA = pulmonary atresia in the implementation. I could find an expansion in Nora (1989).
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