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

Abstract

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.

Fig. 1

Upper abdomen view showing situs solitus. AO, aorta; IVC, inferior vena cava; L, fetal left; R, fetal right; P, fetal posterior; A, fetal anterior; S, stomach.

Fig. 2

Image showing the four-chamber view. RV with the moderator band, tricuspid valve more apical than mitral valve, LA with the presence of forame ovale flap (red arrow), and pulmonary veins draining into LA. L, fetal left; R, fetal right; LA, left atrium; LV, left ventricle; RV, right ventricle; PV, pulmonary vein; TV, tricuspid valve; MV, mitral valve; AO, aorta. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 3

Image showing the five-chamber view. Outflow LV tract (LVOT): aorta arising from LV, aortic valve and the thickness of the interventricular septum (2.3 mm). AO, aorta; LV, left ventricle; AOv, aortic valve; M, mitral valve; IVS, interventricular septum; D, diameter.

Fig. 4

Image showing RV outflow short-axis (RVOT). The pulmonary trunk arises from RV. PV, pulmonary valve; PT, pulmonary trunk; RV, right ventricle; AOv, aortic valve.

Fig. 5

(a) The three vessels view showing the relationship and size of the pulmonary artery, aorta and superior vena cava (three vessels). The pulmonary artery, to the left, is slightly larger than aorta and the superior vena cava is the smallest and posterior vessel. PA, pulmonary artery; AO, aorta; SVC, superior vena cava; R, right; L, left. (b) The three vessels view showing the aorta and ductus arteriosus located to the left to trachea. The thymus can be visualized in the front of three vessels. PT, pulmonary trunk; LP, left pulmonary artery; RP, right pulmonar artery; AO, aorta; SVC, superior vena cava; T, trachea.

Fig. 6

Image showing the fetal heart pointing (yellow arrow) to the right side of fetal thorax (dextrocardia). R, fetal right; L, fetal left; RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 7

Upper abdomen view showing left isomerism with interrupted inferior vena cava with azygos continuation (dilated azygos and aorta side-by-side).

Fig. 8

Image showing an atrioventricular septal defect with an enlarged sinus coronary (red arrow) due to the left SVC draining into it. CS, coronary sinus; RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 9

Types of atrial septal defect (ASD).

Fig. 10

Fetal echocardiogram showing a malaligned VSD in the four-chamber view. LV, left ventricle; RV, right ventricle; VSD, ventricular septal defect; AO, aorta.

Fig. 11

Types of AVSD and normal atrioventricular valves (normal heart). The image shows the partial AVSD with two AV valves and the complete form of AVSD with a single AV valve. AVSD, atrioventricular septal defect; AV atrioventricular valve.

Fig. 12

Fetal echocardiographic image of four-chamber view demonstrating atrioventricular septal defect (AVSD) Rastelli’s type B- see the superior bridging leaflet of atriventricular valve attached over the ventricular septum by an anomalous papillary muscle of the right ventricle (red arrow). LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 13

Fetal echocardiographic image of four-chamber view showing a balanced complete atrioventricular septal defect (AVSD). During diastole, the common atrioventricular valve is open with the absence of AV septum (H-shaped by color Doppler mapping due to the absence of the AV septum), and large atrial and ventricular defects. LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle; ASD, primum atrial septum defect; VSD, inlet ventricular septal defect; AV atrioventricular valve.

Fig. 14

Image showing by color Doppler the presence of reversed flow (arrow) in PA (pulmonary atresia) and a PA with small size in 3 V view. PA, pulmonary artery; AO, aorta.

Fig. 15

Image showing TV dysplasia with normal attachment of the TV (a) and severe tricuspid regurgitation (TR) (b). TV, tricuspid valve; LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle; TR, tricuspid regurgitation; MV, mitral valve.

Fig. 16

Fetal echocardiogram showing the small aorta with reversed flow by three vessels and trachea view in a case of critical aortic stenosis (a) and a dilated LV with endocardial fibro elastosis in a four-chamber view (b). PA, pulmonary artery; AO, descending aorta; SVC, superior vena cava; L, left; R, right; LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.

Fig. 17

Image showing a hypoplastic LV due to mitral atresia and right chambers enlargement with TR. TR, tricuspid regurgitation; LV, left ventricle; RA, right atrium; RV, right ventricle; MA, mitral atresia valve; TV, tricuspid valve.

Fig. 18

Tetralogy of Fallot. (a) The five-chamber view showing the overriding of the aorta and an outlet VSD. (b) The three vessels view image showing a large aorta and a small pulmonary artery. RV, right ventricle; LV, left ventricle; VSD, ventricular septal defect; PA, pulmonary artery; AO, aorta; SVC, superior vena cava.

Fig. 19

Fetal echocardiography showing a case of truncus arteriosus type I. (a) The five-chamber view showing the presence of a thickened truncal valve that overrides a large VSD (arrow). (b) The three vessels view showing two vessels: superior vena cava and truncal vessel (Type I: pulmonary trunk arising from the truncal vessel). TV, truncal vessel; VSD, ventricular septal defect; LV, left ventricle; RV, right ventricle; VSD, ventricular septal defect; PT, pulmonary artery trunk.

Fig. 20

The three vessels view showing the small size of the transverse aorta in a case of coarctation of the aorta. SVC, superior vena cava; AO, aorta; PA, pulmonary artery.

Fig. 21

Figures of types of interrupted aortic arch classified according to the location of the interruption (a, b, and c). LCA, left carotid artery; LSA, left subclavian artery; IA, innominate artery; AO, aorta; PA, pulmonary artery; DA, ductus arteriosus.

Fig. 22

Image showing a right sided aortic arch with a left subclavian artery at three-vessel view (U-shaped). AO, aorta; PA, pulmonary artery; LSA, left subclavian artery; DA, ductus arteriosus; T, trachea; R, right; L, left.