Incidence, concordance and outcome of fetuses referred for family history of congenital heart disease

One of the most common reasons for fetal echocardiography (FE) is a family history of congenital heart disease (CHD). From 7/84 to 4/96, 381 women were referred for FE for this reason. In 84 of these fetuses the mother had CHD, 23 cases the father, 207 cases a sibling(s), 67 cases a 2nd-degree relative; 329 fetuses had no cardiac disease. Fifty-two fetuses (13.6%) had CHD on exams at 16-41 weeks gestational age. Of these fetuses, 19 (37%) had CHD concordant with the index case; 12 with septal defects (3 cases of Holt-Oram syndrome, 2 with hypertrophic cardiomyopathy, 2 with coarctation, 1 with single ventricle and 1 with tetralogy of Fallot (TOF). A father with patent ductus arteriosus (PDA) had a child with a PDA postnatally. Similar defects [i.e. index case/fetus: ventricular septal defect (VSD)/atrial septal defect; coarctation/hypoplastic left heart (HLH)]. Tetralogy of Fallot/VSD were seen in 16 cases (31%) in whom 9 fetuses had septal defects, 3 left heart obstructive lesions, 2 conotruncal defects, 1 mitral valve regurgitation, 1 single ventricle and 1 pulmonary stenosis. There were 5 cases with unrelated CHD in whom 2 fetuses had conotruncal defects, 2 HLH and 1 VSD. There were 12 cases where the type of CHD in the index case was unknown. Two pregnancies were terminated, no in utero deaths and 9 infants died postnatally (7 after surgery, no intervention in 2 HLH) for a mortality rate of 21%. Conclusion: Our study showed 1) the incidence of CHD in fetuses referred for family history of CHD was 13%, 2) a high rate of concordance between fetuses with CHD and their family members with CHD, and 3) the perinatal mortality in these fetuses with CHD was considerably less than in several other studies looking at fetuses with CHD.