Journal of Medical Ultrasound (2012) 20, 65e71

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REVIEW ARTICLE

Diagnosis of Transposition of the Great Arteries

in the Fetus
Jin-Chung Shih 1*, Shu-Chien Huang 2, Chia-Hui Lin 1, Tzu-Hung Lin 1,
Ying-Ning Su 1, Shin-Yu Lin 1, En-Ting Wu 3, Ming-Kwang Shyu 1,
Chien-Nan Lee 1

1
Department of Obstetrics and Gynecology, 2 Department of Surgery, and 3 Department of Pediatrics, National Taiwan Univer-
sity Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

Received 12 October, 2011; accepted 4 November, 2011

KEY WORDS Transposition of the great arteries (TGA) is a group of congenital cardiac defects characterized
antenatal diagnosis, by ventriculoarterial discordance. It is one of the most common cyanotic heart diseases, and
fetus, most affected neonates are undiagnosed as fetuses. The sequelae of the complex congenital
transposition of the heart diseases could be severe if undiagnosed before birth. However, the outcome of fetuses
great arteries, with TGA is improved with prenatal detection of this condition. The purpose of this article is to
ultrasound review the gold standard and additional signs for the diagnosis of fetal TGA.
ª 2012, Elsevier Taiwan LLC and the Chinese Taipei Society of Ultrasound in Medicine. All rights
reserved.

Introduction ventricular septum. A few decades ago, Van Praagh et al

suggested that the aberrations in conotruncal development
Transposition of the great arteries (TGA) was first described could result in a continuum of malpositions of the great
by Mathew Baillie in 1797 [1]. The term transposition was arteries [2]. TGA is simply one subtype of these malposi-
first used by Farre in 1814, in which “trans” means “across” tions. Other subcategories of these malpositions include
and “position” means “placement.” Transposition means double-outlet right ventricle, double-outlet left ventricle,
that the aorta and pulmonary artery are placed across the and anatomically corrected malposition [3].
The reported prevalence of congenital heart disease
(CHD) varies between four and 10 per 1000 live births
[4e6]. Due to advances in fetal ultrasound resolution and
* Correspondence to: Dr. Jin-Chung Shih, Department of Obstet-
rics and Gynecology, National Taiwan University Hospital, 15F,
techniques, obstetricians have the increasing ability to
Number 8, Chung-Shan South Road, Taipei 10002, Taiwan. detect fetal CHD prenatally, thereby prompting timely
E-mail address: [email protected] (J.-C. Shih). referral for adequate perinatal management. Based on

0929-6441/$36 ª 2012, Elsevier Taiwan LLC and the Chinese Taipei Society of Ultrasound in Medicine. All rights reserved.
doi:10.1016/j.jmu.2012.04.005
66 J.-C. Shih et al.

a review of the literature, the antenatal diagnosis and However, it must be emphasized that diagnostic accuracy
transfer of neonates with CHD could improve both short- is only half based on the literature [21e23]. The gold
term and long-term outcomes, especially in those with standard and the additional signs of ultrasound in the
cyanotic congenital heart diseases [6,7]. diagnosis of fetal TGA are discussed in the following
In a population-based review, cardiac defects account paragraphs.
for almost half of the neonatal deaths attributed to
congenital malformations [8]. Tetralogy of Fallot and TGA
are the most common cyanotic heart defects, each The localization of cardiac chambers and great
constituting approximately 10% of fetal congenital heart arteries
defects [9e13]. However, in most fetuses, TGA remains
undiagnosed before birth. According to a population-based The first step in the diagnosis of fetal TGA is the localization
review [14], TGA is diagnosed prenatally in only 17% of of the cardiac chambers and their connections with the
affected neonates. In contrast, approximately one-half of great arteries [22]. This is best done by the segmental
cases of tetralogy of Fallot can be correctly diagnosed in approach as described in the literature [15,24e26]. These
utero. We conducted a comprehensive review for the cardiac structures can be identified on the basis of their
diagnosis of TGA in the fetus because of this low detection specific morphologic features.
rate. Anatomically, the differentiation of the atrial chamber
is based on the morphologic aspect of the atrial append-
ages. The atrial appendages are the earlike extensions of
Terminology
the atria. Typically, the RA appendage is triangular in
shape, whereas the LA appendage is fingerlike [15].
TGA as well as other CHD are best diagnosed using the
However, differentiation of atrial appendages is difficult
segmental approach of the fetal heart [15e17]. To enhance
during the antenatal period. In addition, systemic and
understanding of the terminology used in the segmental
pulmonary venous connections may provide important clues
approach for the diagnosis of TGA, the following terms
to define situs of the atria in the fetus. The supra-
should be clarified in advance [2,3,16,18e20].
diaphragmatic portion of the inferior vena cava (IVC)
Atrioventricular (A-V) discordance: The morphologic
provides a reliable landmark to identify the anatomic RA
right atrium (RA) is erroneously connected to the morpho-
(because of the rule of venoatrial concordance) [15], and
logic left ventricle (LV); and the morphologic left atrium
the drainages of four pulmonary veins usually define the
(LA) is incorrectly drained to the morphologic right
location of anatomic LA (Fig. 1A and B).
ventricle (RV).
Certain features that could help differentiate the right
Ventriculoarterial (V-A) discordance: The pulmonary
and left ventricles are the texture and distribution of
artery (PA) arises from a morphologic LV, and the aorta (Ao)
internal trabeculae. The trabeculae are coarse in the RV,
arises from a morphologic RV.
but thin and delicate in the LV (Fig. 1B and 1C). More-
Complete transposition of the great arteries (TGA):
over, the papillary muscles of the RV are attached to
Indicates the conditions of ventriculoarterial discordance.
both the interventricular septum and the lateral wall, yet
The Ao arises from a morphologic RV, and the PA arises from
the two papillary muscles of the LV are attached only to
a morphologic LV. The A-V connection is correct.
the lateral wall of myocardium [15,27,28] (Fig. 1C).
Congenitally corrected transposition of great arteries
Nevertheless, these anatomic features may not be
(ccTGA): Refers to the condition of A-V discordance plus V-A
apparent in the fetus. The insertion of the tricuspid valve
discordance. In brief, the RA enters the LV, which gives rise
to the ventricular septum is lower than that of the mitral
to the PA. The LA connects the RV, which gives rise to the
valve, and the location of the moderator band in the
Ao. Thus, the circulation becomes physiologically corrected
apical area identifies the location of the RV (Fig. 1B).
although double errors occur.
Both characteristics are valuable in defining the
d-loop: Denotes the normal rightward (dextro, d ) loop
morphologic RV.
of the embryonic cardiac tube. The inflow portion of the RV
The major characteristic of the PA is that the three
is to the right of the morphologic LV.
branches (right and left PA, ductus arteriosus) immediately
l-loop: Denotes the cardiac tube bending leftward (levo,
emerge from the main PA when it arises from the RV
l ) during embryogenesis. The inflow portion of the
(Fig. 1D). In contrast, the Ao does not branch into the
morphologic RV is to the left of the morphologic LV.
ascending portion except for the coronary arteries. The
aortic arch can be seen by positioning the transducer to
Detecting transposition of the great arteries in the the left parasagittal plane. In the view, the Ao is seen to
fetus arise from the middle of the fetal thorax with acute
curvature (usually described as having a ‘candy cane’
According to the policy of the Bureau of Health Promotion appearance). Three branches from the transverse arch can
in the Department of Health of Taiwan, general practi- be identified as the innominate, the left common carotid,
tioners should perform routine ultrasound to evaluate and the left subclavian arteries (Fig. 1E). The ductal arch
fetal growth at 20 weeks’ gestation. The diagnosis of TGA can be seen by sliding the transducer to the left from the
can be made by carefully and appropriately evaluating the aortic arch (with a slight tilt of the transducer). In the
anatomic locations of cardiac chambers and the connec- normal fetus, the ductal arch arises from the anterior
tions between the atria, ventricles, and great arteries at thorax with a wide curvature (usually described as having
this gestational age with high-resolution ultrasound. a ‘hockey stick’ appearance). There is no branch in the
Transposition of the Great Arteries 67

Fig. 1 (A) Parasagittal view of the fetal heart. The drainage of IVC identifies the location of the RV. (B) Four-chamber view of the
fetal heart. The MB indicates the location of the morphologic RV, whereas the drainage of normal pulmonary veins denotes
the location of the LA. The trabeculae are coarse in the RV but thin and delicate in the LV. (C) Anatomically, the insertion of the
tricuspid valve to the ventricular septum is lower than the mitral valve (arrows). In addition, the papillary muscles of the RV are
attached to both the interventricular septum and the free wall (asterisks), yet the two papillary muscles of the LV are attached only
to the free wall. These landmarks are useful features for the identification of the morphologic RV. (D) The major characteristic of
the pulmonary artery is that the main pulmonary trunk branches into the right and left pulmonary arteries and the ductus arte-
riosus. The ductus arteriosus is not shown here because it is at the higher position. (E) The ‘candy cane’ appearance of the aortic
arch, which originates from the middle thorax. 1, the innominate artery; 2, the left common carotid artery; 3, the left subclavian
arteries. (F) In the normal fetus, the ductal arch arises from the anterior thorax with a wide curvature (the ’hockey stick’
appearance). Ao Z aorta; IVC Z inferior vena cava; LA Z left atrium; LPA Z left pulmonary artery; LV Z left ventricle;
MB Z moderator band; MPA Z main pulmonary artery; MV Z mitral valve; PA Z pulmonary artery; PV Z pulmonary vein;
RA Z right atrium; RPA Z right pulmonary artery; RV Z right ventricle; TV Z tricuspid valve.

transverse portion of the ductal arch, which can be used to ventricular outflow tract view and the right ventricular
differentiate the aortic arch (Fig. 1F). outflow tract view subsequently. Sometimes these two
views can be obtained simultaneously in the same plane.
These two views essentially establish the diagnosis of fetal
‘Gold standard’ of the diagnosis of fetal TGA TGA.
After demonstrating V-A discordance, the A-V connec-
The diagnosis standard of fetal TGA is the demonstration of tion should be inspected to differentiate complete trans-
V-A discordance. The Ao arises from the morphologic RV position (d-TGA) from congenitally corrected transposition
while the PA arises from the morphologic LV [18] (Fig. 2). The (ccTGA). If V-A discordance combined with a correct A-V
diagnosis of V-A discordance can be achieved by rotating the connection is noted, the diagnosis is complete transposition
transducer from the four-chamber view to the left of the great arteries (d-loop TGA, or d-TGA). In contrast,
68 J.-C. Shih et al.

TGA or assist diagnosis in certain conditions such as unfa-

vorable fetal position or diagnostic dilemma between
similar pathologies. The identification of fetal TGA may
improve perinatal outcome with well-timed transport of
the mother to a tertiary center for neonatal cardiovascular
assistance [34,35].

1. Three-vessel and trachea view: The three-vessel or

three-vessel-trachea view is a transverse view of the
fetal upper mediastinum [32,36,37]. In this plane, the
main PA, Ao, and superior vena cava (plus the cross
section of trachea in front of the spine) are conse-
quently demonstrated from the left side (Fig. 4).
However, in the fetus with TGA, this anatomic
sequence is altered and usually demonstrates a solitary
transverse Ao in the same plane. The PA and superior
Fig. 2 The ventriculoarterial (V-A) discordance and the vena cava sometimes may be seen on the same side of
parallel alignment of the great arteries essentially establish the transverse Ao (Fig. 5).
the diagnosis of transposition of the great arteries in the fetus. 2. The arch view: In the fetus with TGA, the aortic arch
The asterisk indicates the location of moderator band. may be shifted to the anterior fetal thorax, with
Ao Z aorta; LV Z left ventricle; RV Z right ventricle; a ductal arch in its posterior aspect. Both arches may
PA Z pulmonary artery. demonstrate a parallel configuration without a normal
spiraling relationship (Fig. 6).
3. The outflow tract view: In the normal fetus, the great
when V-A discordance plus A-V discordance (Fig. 3) is
arteries emerging from the bilateral ventricles show
demonstrated, the diagnosis is changed to congenitally
a ‘crossover’ relationship. However, in the fetus with
corrected transposition of the great arteries (ccTGA; l-loop
TGA, the great arteries are usually aligned in the
TGA). These two entities should be differentiated because
parallel course, which allows visualization of both great
the clinical manifestation, outcome, and surgical options
arteries from ventricles in a single scanning plane
are totally different.
(Fig. 4). However, not all fetuses with TGA have this
parallel relationship of the great arteries.
The additional signs of the diagnosis of fetal TGA 4. The ‘big-eye frog’ view [21]: Using four-dimensional
spatiotemporal image correlation technique, the en-
Several additional scanning planes and signs of the diag- face view of the fetal A-V valves could be seen. In
nosis of fetal TGA have been described in the literature this view, the PA is at the 1-2 o’clock direction (left
[21,22,29e33]. These additional views, although not anterior side) of the Ao. However, the anatomic rela-
essential to the prenatal diagnosis, may help to identify tionship is altered in the fetuses with d-TGA. In those
fetuses with TGA, the PA deviates posteriorly to the
directions of 3 or 4-5 o’clock direction of Ao (i.e., PA
parallel or left posterior to the Ao) (Fig. 7).

Fig. 3 The atrioventricular (A-V) discordance. The LA, which

receives the drainages from the PV, connects to the morpho-
logic RV (identified by the presence of the moderator band).
The diagnosis of ccTGA can be made in coexistence with the V- Fig. 4 The three-vessel tracheal view through the upper
A discordance. AO Z aorta; ccTGA Z congenitally corrected mediastinum of the fetus. The pulmonary artery (PA), the aorta
transposition of great arteries; LA Z left atrium; (Ao), and the superior vena cava (SVC) are identified. The
PV Z pulmonary vein; RV Z right ventricle. thymus can be seen anteriorly and the trachea posteriorly.
Transposition of the Great Arteries 69

Fig. 5 The same scanning plane as shown in Fig. 4. The Fig. 7 Three orthogonal planes in a volume data set of fetal
anatomic relationship is altered in the case of fetal trans- transposition of the great arteries (TGA). The C plane identifies
position of the great arteries. Ao Z aorta; RPA Z right the relative locations of the PA to the Ao in this fetus. In the
pulmonary artery. normal fetus, the PA is at the 1-2 o’clock direction to the Ao.
But in the fetus with TGA, the PA deviated posteriorly, either
side-by-side (the ‘big-eye frog’ sign [21]) or to the 4-5 o’clock
Cardiac anomalies associated with TGA direction of the Ao (as illustrated here). The axis bar shown on
the lower right area illustrates the relative position of the C
Complete transposition of the great arteries (d-TGA) plane to the fetal body. Arrows indicate the two coronary
Approximately one-half of the fetuses with TGA have arteries from the ascending aorta. Ao Z aorta; PA = pulmonary
associated ventricular septal defect (VSD). The location of artery. RAA Z right atrial appendage; LAA Z left atrial
VSD could be anywhere, but is most commonly found at the appendage.
part of the outlet portion with an anterior or posterior
malalignment [38]. Anterior malalignment of the outlet
septum may result in aortic root stenosis and widening of may be seen. In this condition, it may be difficult to
the pulmonary tract. With a great degree of pulmonary distinguish tetralogy of Fallot from TGA [1,7,16,18,39].
valve overriding the ventricular septum (Fig. 8), TGA may Left ventricular outflow tract obstruction (LVOTO) is
merge into the continuum of the double outlet of the right common in d-TGA due to the posterior malalignment of the
ventricle. In contrast, when there is posterior malalignment outlet septum, resulting in a small PA in comparison to the
of the outlet septum, pulmonary stenosis with overriding Ao Ao (Fig. 9 A and B). In contrast, right ventricular outflow
tract obstruction (RVOTO) with aortic stenosis is less
common in d-TGA. Premature closure of the foramen ovale
is relatively common in the fetuses with TGA, probably due

Fig. 6 In this scan showing transposition of the great

arteries, the spatial arrangement of the aortic arch and the
ductal arch is in reverse. In this fetus with congenitally cor-
rected transposition of the great arteries, the aortic arch Fig. 8 The PA overrides the interventricular septum due to
(identified by the presence of three branches in the transverse the anterior malalignment (indicated by the arrow) of the
arch) appears anterior to the ductal arch. Both arches are outlet septum. The asterisk indicates the location of the
aligned in the parallel course, a finding not seen in the normal ventricular septal defect. Ant Z anterior; Ao Z aorta;
fetus. PA Z pulmonary artery; Sp Z spine.
70 J.-C. Shih et al.

Fig. 9 (A) The posterior malalignment of the outlet septum (indicated by the arrow) results in pulmonary stenosis and left
ventricular outflow tract obstruction (LVOTO) in a fetus with transposition of the great arteries. The asterisk indicates the location
of the ventricular septal defect. (B) The same fetus as shown in (A). The posterior malalignment of the outlet septum simulta-
neously results in dilated aortic root, sometimes becoming overriding aorta. Ao Z aorta; LV Z left ventricle; PA Z pulmonary
artery; RV Z right ventricle.

to highly oxygenated blood streaming through the foramen Genetic counseling of TGA diagnosed in the fetus
ovale [40] (Fig. 10). When both VSD and the foramen ovale
are closed or nearly closed, the affected neonates may The morphogenesis of the fetal heart concerns complex
require intensive care (including extracorporeal membrane developmental changes in the first few weeks of embryonic
oxygenation) immediately after birth, and early surgery. life. Many chromosomal and genetic factors may contribute
Complete transposition of the great arteries may often to the development of congenital cardiac defects. Based on
combine with atrial isomerism, common A-V canal, and a population-based case-control study, the prevalence of
double outlet of RV. chromosome aberrations in fetuses with CHD is approxi-
mately 13% [41]. Most of these aberrations are trisomies 21,
Congenitally corrected transposition of the great arteries 18, and 13. However, the incidence of chromosome
(ccTGA) anomaly in fetuses with TGA is 0.9% [42], which is identical
Complete transposition of the great arteries is often an to that of the normal population. DiGeorge syndrome
isolated lesion. In contrast, 90% of fetuses with ccTGA will results from the microdeletion of chromosome 22q11,
have other cardiac malformations. Approximately 70% of which occurs in 1 per 4000 live births [43]. Phenotypic
affected fetuses have VSD, mostly in the perimembranous manifestations include cardiac defects, characteristic
portion. LVOTO and tricuspid stenosis occur in 40% and 30% facies, and thymic hypoplasia. This condition reportedly is
of fetuses with TGA, respectively. Bradycardia and associated with tetralogy of Fallot or other conotruncal
complete A-V block were occasionally noted. malformations. However, it rarely occurs in the fetus with
TGA. Extracardiac defects usually are associated with other
congenital cardiac defects, but the incidence in TGA is low.
Approximately 9% of neonates with TGA are reported to
have associated extracardiac malformations, and no
specific type of malformation is described [42].

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