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. Target Audience Obstetricians and gynecologists, family physicians. Learning Objectives After participating in this activity, physicians should be better able to distinguish the appropriate genetic screening and testing when congenital cardiac defects are diagnosed; assess associated risks of genetic abnormality with a diagnosed congenital cardiac defect; refer patients to genetic counselors for appropriate indication(s); describe the risks, benefits, and limitations of antenatal genetic testing and educate patient regarding these risks, benefits, and limitations; and identify indications for screening fetal echocardiography.