Description of misdiagnosis and missed diagnosis of fetal complex heart malformations by prenatal echocardiography combined with postnatal cardiovascular casting.

OBJECTIVE: To compare prenatal echocardiography with postnatal cardiovascular casting for detection of fetal cardiovascular malformations, and to discuss the causes of prenatal misdiagnosis and missed diagnosis. METHODS: We retrospectively identified patients from 2013 to 2018 at our Maternal-Fetal Medicine Center who were reported to have a fetal diagnosis of severe congenital heart malformations (CHMs). Subjects had postnatal confirmation of CHMs. Prenatal and postnatal medical records, including ultrasound results and casting findings, were reviewed and analyzed. RESULTS: Postnatal casting showed that all 35 fetuses had complex CHMs. In these 35 cases, 90 cardiovascular malformations were found by postnatal casting, and 69 were detected by prenatal echocardiography. Among the other 21 cardiovascular malformations, 7 were misdiagnosed and 14 diagnoses were missed by prenatal ultrasound. CONCLUSION: Prenatal echocardiography may lead to misdiagnosis and missed diagnoses, especially in cases with great arterial branching anomalies. Postnatal casting can demonstrate the configuration of the great vessels and smaller branches directly. Thus, understanding of such malformations via postnatal casting may help to improve prenatal diagnostic accuracy.