Congenital Heart Disease: Prenatal Diagnosis and Genetic Associations.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Hopkins, MK; Dugoff, L; Kuller, JA

Published Date

  • August 2019

Published In

Volume / Issue

  • 74 / 8

Start / End Page

  • 497 - 503

PubMed ID

  • 31418452

Electronic International Standard Serial Number (EISSN)

  • 1533-9866

Digital Object Identifier (DOI)

  • 10.1097/OGX.0000000000000702


  • eng

Conference Location

  • United States