Congenital Heart Disease: Prenatal Diagnosis and Genetic Associations.

Importance: Congenital heart disease (CHD) is a common cause of neonatal morbidity and mortality. Several genetic abnormalities have been linked to congenital cardiac disease. When diagnosed prenatally, appropriate evaluation can help optimize neonatal outcomes.

Objective: The objective of this review is to identify appropriate prenatal genetic testing when congenital cardiac defects are identified antenatally. This review also identifies specific congenital cardiac defects that are associated with fetal aneuploidy and genetic syndromes.

Evidence Acquisition: A MEDLINE search of "genetic testing" or "microarray" and "congenital heart disease" and specific conditions reported in the review was performed.

Results: The evidence cited in this review includes case reports or case series (4) textbooks (3), systematic reviews (1), expert committee opinions (10), and 37 additional peer-reviewed journal articles that were original research or expert summaries.

Conclusions And Relevance: When CHD is identified through prenatal screening, patients should be referred for genetic counseling and offered appropriate genetic testing. Prenatal diagnosis of genetic syndromes related to CHD and close communication between obstetric, genetic, and pediatric providers can help optimize outcomes for both mother and baby.