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).
Purpose: To estimate the risk of recurrence for congenital heart disease in a family with an affected member.
Specialty: Genetics
Objective: risk factors
ICD-10: Q24.9,