Detection of Major Congenital Heart Disease with Detailed Fetal Echocardiography

Cardiac defects are the most common congenital abnormalities. However, they are frequently not detected on routine ultrasound screening examinations. The main aim of this study was to assess the prenatal diagnosis of major congenital heart disease (CHD) using detailed fetal echocardiography. Between January 1997 and December 2004, all pregnant women who visited our pediatric cardiovascular department were routinely offered at least one detailed fetal echocardiography after 16 weeks' gestation. Initially 1178 cases were screened. There were 589 newborns who received detailed postnatal echocardiography. Twelve abortion cases were excluded. Thirty-five cases of major CHD were detected on detailed fetal echocardiography. There were 2 false-positive and 1 false-negative diagnoses. The false-positive cases were one case of pulmonary atresia with an intact ventricular septum and one case of hypoplastic left heart syndrome. The false-negative case was a missed ventricular septal defect (0.28 cm). The sensitivity of detailed fetal echocardiography for major CHD was 97.22%. The specificity was 99.64%. Detailed fetal echocardiography is an accurate and specific method to detect major CHD.