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PRENATAL DETECTION OF CONGENITAL HEART DISEASE

Current Status

Most infants born with serious congenital heart disease undergo rapid evaluation and life-saving treatment. Most fetuses with significant cardiac malformations, however, are not diagnosed prenatally. Those not diagnosed prenatally cannot receive state-of-the-art fetal cardiology evaluation and treatment, a situation tantamount to sending a cyanotic newborn home without the benefit of currently available diagnostic and treatment methods.

Cardiac malformations are the most frequent anomalies of human development. Cardiac defects occur in about 8/1000 live births. Among congenital abnormalities tabulated in the United States, cardiac malformations are the number one cause of death. Even today, 1 out of 10 infants dying from congenital heart disease do so without diagnosis until autopsy, a sobering fact that universal fetal cardiac evaluation could alter. Nonetheless, fetal cardiac evaluations are currently limited to those women who are referred because of risk factors for fetal heart disease (Table 16-1). Studies, however, show that most newborns with congenital heart disease are born to women without risk factors1; hence, most infants with congenital heart disease are not diagnosed prenatally.

TABLE 16-1.Risk Factors for Fetal Heart Disease and Current Indications for Fetal Echocardiography

The first reports on the use of ultrasound to evaluate the fetal heart appeared in the 1960s and 1970s. The work by Kleinman and colleagues, first published in 1988,2 marked the beginning of modern fetal echocardiography and the birth of fetal cardiology as a new super specialty of pediatric cardiology. Thus, prenatal cardiac diagnosis has been possible for over 30 years. With today's clinical knowledge and technical advancements, the prenatal diagnosis of serious congenital heart diseases by fetal echocardiogram approaches 100%. Because of limitations placed on the use of fetal cardiac evaluation, these advancements have not improved the general prenatal detection of serious cardiac abnormalities.3

Most pregnant women undergo only a general obstetric ultrasound which, following the joint recommendations by the American Institute of Ultrasound in Medicine, the American College of Radiology, and the American College of Obstetrics and Gynecologists, includes a limited evaluation of the 4 chambers of the heart, and if possible, a view of the outflows.4 By following these current strategies, we and other investigators have shown that ⅔ of fetuses with serious congenital heart diseases remain undiagnosed.3,5 Primarily for financial reasons, ...

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