The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease

Abstract

Congenital heart disease (CHD) is increasingly diagnosed prenatally and the ability to screen and diagnose the genetic factors involved in CHD have greatly improved. The presence of a genetic abnormality in the setting of prenatally diagnosed CHD impacts prenatal counseling and ensures that families and providers have as much information as possible surrounding perinatal management and what to expect in the future. This review will discuss the genetic evaluation that can occur prior to birth, what different genetic testing methods are available, and what to think about in the setting of various CHD diagnoses.

Keywords

• genetic testing
• prenatal diagnosis
• perinatal counseling
• congenital heart disease