Objective: We sought to determine the incremental diagnostic utility of pediatric cardiac assessment in the offspring of women with congenital heart disease who have had previous fetal echocardiography.
Patients and methods: We prospectively followed pregnant women with congenital heart disease who were receiving care at 2 obstetric and cardiac centers and identified 276 infants who underwent both fetal echocardiography and pediatric cardiac assessment. All of the infants with abnormal fetal echocardiography findings or abnormal pediatric cardiac assessments underwent subsequent confirmatory pediatric echocardiography.
Results: In this cohort, congenital heart disease was detected in 22 (8%) of 276 offspring born to women with congenital heart disease. There was concordance between the results of fetal echocardiography and pediatric cardiac assessment in 235 (85%) of 276 offspring (231, both normal; 4, both abnormal) and discordance between the results of fetal echocardiography and pediatric cardiac assessment in 41 (15%) of 276 infants. In the 41 subjects with discordant results, there were normal fetal echocardiography findings but abnormal pediatric cardiac assessments in 35 of 41 (pediatric echocardiography revealed congenital heart disease in 18 of 35 and normal anatomy in 17 of 35) and abnormal fetal echocardiography findings but normal pediatric cardiac assessments in 6 of 41 (pediatric echocardiography findings normal in all 6 of the infants). Fetal echocardiography detected all of the major forms of congenital heart disease. Lesions missed by fetal echocardiography but detected on pediatric cardiac assessment included shunt lesions and minor valvular abnormalities.
Conclusions: Although fetal echocardiography can reliably exclude major forms of congenital heart disease, minor congenital heart disease lesions can be missed on fetal echocardiography; however, these can be diagnosed with careful pediatric cardiac assessment. Postnatal pediatric cardiac assessment has incremental diagnostic utility for the detection of congenital heart disease in the offspring of women with congenital heart disease and previous fetal echocardiography.