Outcome of prenatally detected cardiac malformations

Reliable, prenatal detection of congenital heart disease has become possible over the past decade with the evolution of fetal echocardiography. We have documented the outcome of 170 cardiac defects diagnosed prenatally since 1984. Of 170 cases, 55 (32%) had major extracardiac malformations and 45 (28%) chromosomal abnormalities (16 had both). Elective termination was chosen in 77 (45%) pregnancies. Of 93 continuing pregnancies 15 were stillborn and 43 died postnatally (48% of these fetuses and infants had extracardiac or chromosomal anomalies, or both). Thirty-five patients survive at 1 to 80 months (mean 36). Aneuploidy or extracardiac defects are present in 20% of survivors. Nonimmune hydrops secondary to cardiac failure was present in 7 continuing pregnancies and none of these patients survived. The prognosis of prenatally diagnosed cardiac lesions is negatively influenced by the presence of cardiac failure, aneuploidy or extracardiac malformations, or a combination of these. Optimal counseling and management requires the identification of these conditions when present.