Antenatal Evaluation and Management of Ultrasonically Detected Fetal Anomalies

With the advent of improved ultrasound imaging, it is now possible to make an intrauterine diagnosis of many fetal anomalies. The key to an accurate antenatal diagnosis is careful scanning of the fetus and knowledge of the abnormalities that may be associated with a particular anomaly. In the presence of fetal anomalies known to be associated with increased frequency of chromosome abnormalities, fetal karyotyping is indicated, using either amniocentesis or fetal blood sampling, depending upon the urgency of the diagnosis. Fetal echocardiography is mandatory when the ultrasonically detected fetal anomaly is one that is known to be associated frequently with cardiac disease. Based on the antenatal findings, the parents should receive appropriate genetic and perinatal counseling. The management plan should always take into consideration the parentsʼ wishes. Management plans for the most common ultrasonically detected fetal anomalies are presented, based upon review of the literature and authorsʼ experience.