Prenatal diagnosis of congenital heart disease: A review of current knowledge

Indian Heart J. 2018 Jan-Feb;70(1):150-164. doi: 10.1016/j.ihj.2017.12.005. Epub 2017 Dec 16.


This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and high-risk pregnancies for CHD are subject to routine obstetric ultrasound, the diagnosis of structural heart defects represents a challenge that involves a team of specialists and subspecialists on fetal ultrasonography. In this review, the images highlight normal anatomy of the heart as well as pathologic cases consistent with cardiac malposition and isomerism, septal defects, pulmonary stenosis/atresia, aortic malformations, hypoplastic left ventricle, conotruncal anomalies, tricuspid dysplasia, and Ebstein's anomaly, and univentricular heart, among other congenital cardiovascular defects. Anatomical details of most CHD in fetuses were provided by two-dimensional (2D) ultrasound with higher quality imaging, enhancing diagnostic accuracy in a variety of CHD. Moreover, the accuracy of the cardiac defects in obstetrics ultrasound improves the outcome of most CHD, providing planned delivery, aided genetic counseling, and perinatal management.

Keywords: Congenital heart disease; Echocardiography; Prenatal diagnosis; Ultrasound imaging.

Publication types

  • Review

MeSH terms

  • Female
  • Health Knowledge, Attitudes, Practice*
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / embryology
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*