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

Abstract

Congenital heart disease (CHD) represents the most common form of birth defect and accounts for a disproportionate share of neonatal mortality related to congenital malformations. Importantly, much of the substantial childhood morbidity and mortality related to CHD stems from delays in detection, diagnosis, and treatment. Outcomes for children with major forms of CHD are improved 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, in some cases, emergent neonatal medical and transcatheter/surgical intervention. Unfortunately, prenatal detection of CHD, even of 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 2022 is more likely than not to have the cardiac diagnosis missed until after delivery, often after discharge from the 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 provides an updated, clinically grounded review of concepts essential to the prenatal detection, diagnosis, evaluation, and management of CHD, both structural malformations and arrhythmias.