ABSTRACT

Introduction Fetal cardiac anomalies are the most common type of congenital anomalies and occur in as many as 5 – 10/1000 live births. It is estimated that about 40 000 live births annually are complicated with a cardiac anomaly in the United States. Cardiac anomalies can present as an isolated finding or as part of a syndrome, manifesting a non-random occurrence of several malformations. The goal of the diagnostician, whether pediatric or perinatologist, is to distinguish a normal from an abnormal fetal heart, identify specific cardiac defects that may present, and search for associated extracardiac anomalies. In addition, the sonographic findings should be categorized as either a syndrome involving congenital heart disease, or as a primary, isolated cardiac anomaly. This distinction is important, as the implications of the two may vary significantly. Since chromosomal abnormalities commonly have phenotypic cardiac manifestations, genetic counseling as well as offering diagnostic genetic testing for specific disorders might be indicated.