25 - Fetal Cardiac Malformations and Arrhythmias: Detection, Diagnosis, Management, and Prognosis

Abstract

Congenital heart disease (CHD) represents, by a good margin, the most common form of birth defect, and accounts for a disproportionate share of neonatal mortality related to congenital abnormalities. Importantly, much of the (substantial) childhood morbidity and mortality related to CHD comes from delays in detection, diagnosis, and treatment. In fact, optimal outcomes for children with major forms of CHD can be achieved with prenatal diagnosis and management by a collaborative, multidisciplinary team of fetal and neonatal subspecialists. Such management begins with detection (fetal cardiac screening), followed by diagnosis and counseling, possible additional testing and/or fetal treatment, coordinated delivery planning, and commonly neonatal medical and transcatheter/surgical intervention. Unfortunately, prenatal detection of CHD, even major forms of CHD, continues to be the Achilles heel of obstetric sonography. Even after receiving second-trimester fetal cardiac screening, the fetus with major CHD in 2018 is more likely than not to have the cardiac diagnosis missed until after delivery, often after discharge home from the delivery hospital. Aimed primarily at the practitioner involved with fetal cardiac imaging, but also directed toward other clinical members of the fetal/neonatal cardiac multidisciplinary team, this chapter will provide a clinically grounded review of concepts essential to the prenatal detection, diagnosis, evaluation, and management of CHD (both structural malformations and arrhythmias).