S c re e n i n g fo r C o n g e n i t a l Heart Disease During A n atom ic al Su r vey Ultrasonography Mert Ozan Bahtiyar,
MD
a,
*, Joshua A. Copel,
MD
a,b
KEYWORDS Congenital heart disease Prenatal ultrasound screening Neonatal outcome KEY POINTS A systematic approach to fetal heart examination, regular feedback, and implementation of training programs could improve detection rates and in turn neonatal outcome. In utero detection of congenital heart disease (CHD) allows possible prenatal interventions. In utero detection of CHD improves postnatal outcome.
INTRODUCTION
Congenital heart disease (CHD) is among the most common congenital abnormalities. The prevalence of CHD ranges between 0.6% and 1.2% of live births.1,2 Despite its high prevalence, CHD is also among the most commonly missed fetal abnormalities.3 Experience of the operator, choice of transducer, maternal body habitus, previous abdominal surgery, gestational age, fetal position, and amount of amniotic fluid are some of the factors that can affect prenatal diagnosis rates.4 A systematic approach to fetal heart examination (Box 1), regular feedback, and implementation of training programs could improve detection rates and, in turn, neonatal outcome.5 Early detection of major CHD is important for prenatal counseling, for determining appropriate prenatal care, and for possible therapeutic interventions. Prenatal
The authors have nothing to disclose. a Maternal-Fetal Medicine, Department of Obstetrics, Gynecology & Reproductive Science, Yale Fetal Cardiovascular Center, Yale Fetal Care Center, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA; b Department of Pediatrics, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA * Corresponding author. Department of Obstetrics, Gynecology & Reproductive Sciences, Yale School of Medicine, 333 Cedar Street, P.O. Box 208063, New Haven, CT 06520-8063. E-mail address: [email protected] Obstet Gynecol Clin N Am 42 (2015) 209–223 http://dx.doi.org/10.1016/j.ogc.2015.01.001 obgyn.theclinics.com 0889-8545/15/$ – see front matter Ó 2015 Elsevier Inc. All rights reserved.
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Box 1 Cardiac examination check list Situs Size Location Axis Heart rate and rhythm Four chamber LA 5 RA LV 5 RV RV has moderator band, anterior AV valves Two distinct AV valves Tricuspid slightly apically displaced Interventricular septum intact Foramen ovale present Foraminal flap opens in to LA LVOT RVOT 3-VV/3-VTV Abbreviations: AV, atrioventricular; LA, left atrium; LV, left ventricle; LVOT, left ventricular outflow tract; RA, right atrium; RV, right ventricle; RVOT, right ventricular outflow tract; 3-VTV, 3-vessel trachea view; 3-VV, 3-vessel view.
detection of specific types of CHD has been repeatedly shown to improve neonatal outcomes.6–10 Most women have at least 1 ultrasound examination during pregnancy.11 For most examiners performing transabdominal ultrasonography, 18 to 22 weeks of gestation is the optimal time for fetal anatomic assessment,11,12 although others advocate earlier transvaginal scans.13,14 The American College of Obstetricians and Gynecologists,11 the American Institute of Ultrasound in Medicine,15 and the International Society of Ultrasound in Obstetrics and Gynecology16 offer extensive recommendations and guidelines on prenatal screening for congenital heart defects. The minimal elements of a standard examination of the fetal heart include the 4-chamber view, left outflow tract, and right outflow tract. This article emphasizes practical aspects of these guidelines. INITIAL ASSESSMENT
The basic assessment of the fetal heart should include confirming abdominal situs, situs of the heart, and the axis, size, and location of the heart within the fetal chest. It is crucial that fetal laterality is determined based on fetal position. There is a natural tendency to assign the situs based on the fetal heart and stomach being on the same site of the body, but one must be certain of which side is left and which is right (Fig. 1).
Screening for Congenital Heart Disease
Fig. 1. (A) Abdominal situs is ascertained in a transverse view of the fetal abdomen. After determining fetal laterality from position of the fetus in utero, the stomach should be identified on the fetal left side with the descending aorta (D. Aorta) and inferior vena cava (IVC) to the left and right sides of the spine, respectively. A short segment of the umbilical vein (UV) is seen. (B) Cardiac position and axis: the heart is mainly on the left (L) side. The cardiac apex points to the left by 45 20 in relation to the anteroposterior axis of the chest. LA, left atrium; LV, left ventricle; R, right; RA, right atrium; RV, right ventricle. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):350; with permission.)
On a cross section of the fetal chest, the fetal heart is mostly located in the left hemithorax. If an imaginary line is drawn between the fetal spine and the sternum, only part of the right atrium (RA) is located to the right of this line. The axis of the fetal interventricular septum creates an angle of 45 20 with the anterior-posterior line (see Fig. 1).17 Although it is not diagnostic, significant left axis deviation (>75 ) is frequently associated with CHD, which are mostly conotruncal anomalies.18,19 The fetal heart should occupy less than one-third of the fetal chest area in a cross-sectional view of the thorax at the level of 4-chamber view. Similarly, the circumference of the fetal heart should be no more than one-third of the circumference of the fetal chest. However, subjective assessment of the fetal heart is equally adequate. This assessment can easily be accomplished when the operator answers the question “Can I place 2 more hearts in this chest?” The fetal heart rate should be assessed. Rhythm abnormalities that are present can usually be noted during heart rate assessment. General assessment of the fetal heart provides significant information. Abnormalities suspected or noted during general assessment of the heart should prompt careful evaluation of the fetal anatomy, as they are often associated with significant concurrent congenital anomalies (Box 2).
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Box 2 Anomalies can be identified due to concerns during initial fetal heart assessment 1. Situs inversus 2. Abnormal location (shift of the heart with or without axis change) a. CDH b. Agenesis of fetal lung c. Congenital lung abnormalities 3. Axis deviation (extreme left or right axis deviation) a. CDH b. Outflow abnormalities 4. Cardiomegaly 5. Rate and rhythm a. Bradycardia b. Tachycardia c. Irregular rhythm
BASIC ASSESSMENT Four-Chamber View
The 4-chamber view can be obtained in a cross section of the fetal chest directly superior to the diaphragm (Fig. 2) and can be obtained more than 95% of fetuses at 18 weeks.20 Once the situs, axis, location, and size of the fetal heart are assessed, attention should be directed to the other details. First, the number of chambers should be noted. In a normal heart, there are 4 chambers: 2 atria and 2 ventricles. The left atrium (LA) is similar in size to RA. The LA can be identified via the flap of the foramen ovale, which should open into the LA. The posterior surface of the LA is irregular because of the entry of the pulmonary veins. The left ventricle (LV) is similar in size to the right ventricle (RV), although often there is a slight dominance of the right side, which has a slightly higher cardiac output than does the left. The morphologic RV is trabeculated compared with the smooth-looking endocardial surface of the LV, and the RV contains the moderator band, which is a distinct muscular band near the apex of the RV. The RV should be anterior to the LV. The basal portion of the interatrial septum (septum primum), upper portion of the interventricular septum, and atrioventricular (AV) valves form the cardiac crux. Two distinct and separate AV valves should be documented. It should be noted that the tricuspid valve is located anteriorly and slightly displaced apically. On the other hand, if there is no offset, an atrioventricular septal defect (AVSD) should be suspected (Fig. 3). If an AVSD is seen, there is a high risk of trisomy 21. Approximately one-third of fetuses with AVSD have trisomy 21. Conversely, 15% to 20% of newborns with Down syndrome have AVSDs.21 As part of the 4-chamber view the interventricular septum should be assessed. The interventricular septum can be assessed in 2 different planes, long axis and short axis.
Screening for Congenital Heart Disease
Fig. 2. Four-chamber view. The key elements of the normal mid-trimester 4-chamber view include heart area no more than one-third of chest area, right- and left-sided structures approximately equal (chamber size and wall thickness), a patent foramen ovale with its valve in the left atrium, an intact cardiac crux with normal offset of the 2 atrioventricular valves and intact ventricular septum. The morphologic right ventricle (RV) is identified by the presence of the moderator band and tricuspid valve, this valve inserting more apically in the septum than does the mitral valve (normal offset). D. Aorta, descending aorta; L, left; LA, left atrium; LV, left ventricle; R, right; RA, right atrium. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):351; with permission.)
Most commonly the long-axis view of the septum is used for assessment. Large septal defects can be visualized with 2-dimensional gray-scale ultrasonography. However, small defects might only be seen with color Doppler assessment. While visualizing an apical 4-chamber view, there might be drop-out artifacts at the thin membranous portion of the septum, which might be mistaken for a ventricular septal defect (Fig. 4). If color Doppler is used to assess the interventricular septum, velocity scale and gain should be adjusted appropriately to avoid aliasing. Isolated, small interventricular septal defects are among the most difficult lesions to detect.22 Finally, the location of the descending aorta should be noted. Normally, the aorta is located to the left of the spinal column. If the aorta is seen more medially or on the right side of the spinal column, right-sided aortic arch should be suspected and
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Fig. 3. Complete atrioventricular septal defect (CAVSD). Four-chamber heart visualized during systole (A) and diastole (B). This case is a known trisomy 21 fetus with CAVSD. In this case, there is a single common atrioventricular valve (arrow).
attention should be paid at visualization of the three-vessel view (3-VV) (see later discussion). The 4-chamber view alone has a low sensitivity in detecting CHD.23 Although early retrospective studies suggested a potential detection rate as high as 80% to 90%,23,24 later prospective studies have shown lower detection rates. Overall when used as a screening tool in the general population, the 4-chamber view can be expected to detect 30% to 40% of cases of CHD.22,24–26 However, it is not adequate for detecting all types of CHD, such as outflow ventricular septal defects, coarctation, tetralogy of Fallot, transposition of the great arteries, double outlet RV, and truncus arteriosus. Additional views of the fetal heart should be carefully evaluated for a more comprehensive assessment. Defects expected to be associated with an abnormal 4-chamber view include hypoplasia of the RV or LV, AVSD, double-inlet ventricle, Ebstein anomaly, single ventricle, and large ventricular septal defects (Box 3). Screening with the 4-chamber view should also identify dextrocardia, situs inversus, ectopia cordis, cardiomyopathies, pericardial effusion, cardiac tumors, tricuspid or mitral atresia, and stenosis.
Fig. 4. Ventricular septal defect (VSD). Interventricular septum is examined with gray scale (A) and color Doppler (B) ultrasound. Although the interventricular septum appeared normal during gray-scale examination, color Doppler showed an isolated muscular VSD. Arrow points the turbulent blood flow across the VSD.
Screening for Congenital Heart Disease
Box 3 Anomalies can be identified through basic cardiac examination Four-chamber view 1. AVSD 2. Hypoplastic left heart syndrome 3. Mitral stenosis 4. Tricuspid atresia 5. Epstein anomaly 6. Hypertrophy 7. Pericardial effusion 8. Intracardiac masses LVOT 1. Overriding aorta 2. Double outlet RV 3. Aortic valve stenosis 4. Transposition of great arteries 5. Truncus 6. Ventricular septal defect RVOT 1. Pulmonary valve stenosis 2. Transposition of great arteries 3. Truncus arteriosus 3-VV 1. Vascular ring 2. Right-sided aortic arch
Hypoplastic ventricles and AVSDs are the defects most often detected prenatally by the 4-chamber view.22,27,28 Outflow Tracts (Left and Right Ventricular Outflow Tracts)
Many conotruncal abnormalities are missed if only a 4-chamber view is used for CHD screening, as only approximately 30% of conotruncal abnormalities are associated with an abnormal 4-chamber view.29 Aortic and pulmonary outflow tracts, the left and right ventricular outflow tracts, respectively, are a standard part of the comprehensive cardiac evaluation and should be included in every ultrasound examination.11,12 The left ventricular outflow tract (LVOT) is evaluated in 5-chamber, long-axis view (Fig. 5). To obtain this, the long axis of the heart is placed as perpendicular as possible to the ultrasound beam and the ultrasound transducer is rotated at its central axis until the LVOT is visualized. Often a slight tilt of the transducer cephalad from a 4-chamber view accomplishes the same effect in terms of visualizing the LVOT. Continuity between the interventricular septum and the aortic valve and ascending aorta should
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Fig. 5. Left ventricular outflow tract view. This view shows a vessel connected to the left ventricle (LV). It is important to demonstrate continuity between the interventricular septum and the anterior wall of this vessel, which in the normal heart corresponds to the aorta. The aortic valve should not be thickened and should be shown to open freely. The aortic valve is closed in (A) and open in (B). D. Aorta, descending aorta; L, left; LA, left atrium; R, right; RA, right atrium; RV, right ventricle. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):354; with permission.)
be carefully sought, along with continuity between the anterior leaflet of the mitral valve and the posterior wall of the aorta. The aortic valve should move freely without thickening. If there is visible dilation of the ascending aorta immediately superior to the aortic valve, valvular stenosis should be suspected. The right ventricular outflow tract (RVOT) is typically visualized in the short axis view of the heart; this can be achieved by tilting the ultrasound probe toward the fetal head from the 4-chamber view, slightly beyond the position used to see the LVOT. The main pulmonary artery, which originates from the RV and is anterior to the LVOT, should be documented. The pulmonary artery bifurcates, with the main pulmonary artery directed posteriorly toward the ductus arteriosus and the right pulmonary artery wrapping around the aortic root. The main pulmonary artery is slightly bigger in caliber than the aortic root. If a major difference in caliber is suspected, the patient should be referred for a fetal echocardiogram, as this could be a sign of aortic or pulmonary stenosis (Fig. 6). While the outflow tracts are being evaluated it is crucial to document ventriculoarterial concordance; this means that the anterior chamber is the RV and the main artery originating from the RV is the pulmonary artery. Similarly, the posterior ventricle is confirmed as the LV and the main artery originating from the LV is the
Screening for Congenital Heart Disease
Fig. 6. Right ventricular outflow tract view. This view shows a vessel connected to the right ventricle (RV). In the normal heart this vessel crosses over the aorta, which helps in identifying it as the main pulmonary artery (PA). The pulmonary valve should not be thickened and should open freely. In (A), the bifurcation of the PA into both pulmonary branches can be seen. The pulmonary valve is closed. In (B), the plane of insonation is slightly more cephalad. The PA, right pulmonary artery (RPA), and arterial duct are seen. D. Aorta, descending aorta; L, left; LPA, left pulmonary artery; R, right; SVC, superior vena cava. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):355; with permission.)
aorta. It is equally important to document, in real time, that 2 great arteries, pulmonary artery and aorta, cross each other and the pulmonary artery is located anteriorly. The 3-Vessel View and 3-Vessel Trachea View
The 3-VV is a transverse view of the fetal upper mediastinum where normally the oblique section of the main pulmonary artery, the transverse aortic arch, and a cross section of the superior vena cava are arranged in a straight line (Fig. 7).30 When the ultrasound transducer is angled further toward the fetal head, the 3-vessel trachea view (3-VTV) is obtained (Fig. 8). The normal 3-VTV view includes a V-shaped vascular confluence in which one arm is the ductus arteriosus and the other is the transverse aortic arch. In fetuses with vascular ring, this view is distorted, and it
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Fig. 7. Three-vessel view. This view best demonstrates the relationship between the pulmonary artery, aorta, and superior vena cava (SVC) in the upper mediastinum. The correct position and alignment of the 3 vessels as well as their relative size should be noted. The pulmonary artery, to the left, is the largest of the 3 and the most anterior, whereas the SVC is the smallest and most posterior. D. Aorta, descending aorta. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):356; with permission.)
appears like a U, with the ductus arteriosus and aortic arch confluent behind the trachea (Fig. 9). If a 3-VV or 3-VTV cannot be confidently obtained, then right-sided aortic arch, interrupted aortic arch, coarctation of the aorta, RVOT abnormalities, and pulmonary stenosis should be suspected. FETAL ECHOCARDIOGRAM
Several researchers have suggested that one approach to improving detection of fetal cardiac anomalies lies in offering universal fetal echocardiography, with detection rates of 80% or more depending on gestational age.31,32 However, universal fetal echocardiography is not practical and cost-effective at this time.33 A fetal echocardiography examination may be necessary if an abnormality or suspected abnormality is found on the standard examination. Otherwise, fetal echocardiography should be offered to patients with appropriate indications (Box 4).34,35
Screening for Congenital Heart Disease
Fig. 8. Three-vessel and trachea view. This view best demonstrates the transverse aortic arch and its relationship with the trachea. In the normal heart, both the aortic arch and the ductal arch are located to the left of the trachea in a V-shaped configuration. L, left; R, right; SVC, superior vena cava. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):356; with permission.)
Fig. 9. Vascular ring. Vascular rings are congenital anomalies of aortic arch development. In this case aorta and abnormal vessel converge behind the trachea.
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Box 4 Indications for fetal echocardiogram Indications with higher risk profile (estimated >2% absolute risk) Maternal pregestational diabetes mellitus Diabetes mellitus diagnosed in the first trimester Maternal phenylketonuria (uncontrolled) Maternal autoantibodies (SSA/SSB1) Maternal medications ACE inhibitors Retinoic acid NSAIDs in third trimester Maternal first-trimester rubella infection Maternal infection with suspicion of fetal myocarditis Assisted reproduction technology CHD in first-degree relative of fetus (maternal, paternal, or sibling with CHD) First- or second-degree relative with disorder with mendelian inheritance with CHD association Fetal cardiac abnormality suspected on obstetric ultrasound examination Fetal extracardiac abnormality suspected on obstetric ultrasound examination Fetal karyotype abnormality Fetal tachycardia or bradycardia or frequent or persistent irregular heart rhythm Fetal increased NT greater than 95% (3 mm) Monochorionic twinning Fetal hydrops or effusions Indications with lower risk profile (estimated >1% but
MD
a,
*, Joshua A. Copel,
MD
a,b
KEYWORDS Congenital heart disease Prenatal ultrasound screening Neonatal outcome KEY POINTS A systematic approach to fetal heart examination, regular feedback, and implementation of training programs could improve detection rates and in turn neonatal outcome. In utero detection of congenital heart disease (CHD) allows possible prenatal interventions. In utero detection of CHD improves postnatal outcome.
INTRODUCTION
Congenital heart disease (CHD) is among the most common congenital abnormalities. The prevalence of CHD ranges between 0.6% and 1.2% of live births.1,2 Despite its high prevalence, CHD is also among the most commonly missed fetal abnormalities.3 Experience of the operator, choice of transducer, maternal body habitus, previous abdominal surgery, gestational age, fetal position, and amount of amniotic fluid are some of the factors that can affect prenatal diagnosis rates.4 A systematic approach to fetal heart examination (Box 1), regular feedback, and implementation of training programs could improve detection rates and, in turn, neonatal outcome.5 Early detection of major CHD is important for prenatal counseling, for determining appropriate prenatal care, and for possible therapeutic interventions. Prenatal
The authors have nothing to disclose. a Maternal-Fetal Medicine, Department of Obstetrics, Gynecology & Reproductive Science, Yale Fetal Cardiovascular Center, Yale Fetal Care Center, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA; b Department of Pediatrics, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA * Corresponding author. Department of Obstetrics, Gynecology & Reproductive Sciences, Yale School of Medicine, 333 Cedar Street, P.O. Box 208063, New Haven, CT 06520-8063. E-mail address: [email protected] Obstet Gynecol Clin N Am 42 (2015) 209–223 http://dx.doi.org/10.1016/j.ogc.2015.01.001 obgyn.theclinics.com 0889-8545/15/$ – see front matter Ó 2015 Elsevier Inc. All rights reserved.
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Box 1 Cardiac examination check list Situs Size Location Axis Heart rate and rhythm Four chamber LA 5 RA LV 5 RV RV has moderator band, anterior AV valves Two distinct AV valves Tricuspid slightly apically displaced Interventricular septum intact Foramen ovale present Foraminal flap opens in to LA LVOT RVOT 3-VV/3-VTV Abbreviations: AV, atrioventricular; LA, left atrium; LV, left ventricle; LVOT, left ventricular outflow tract; RA, right atrium; RV, right ventricle; RVOT, right ventricular outflow tract; 3-VTV, 3-vessel trachea view; 3-VV, 3-vessel view.
detection of specific types of CHD has been repeatedly shown to improve neonatal outcomes.6–10 Most women have at least 1 ultrasound examination during pregnancy.11 For most examiners performing transabdominal ultrasonography, 18 to 22 weeks of gestation is the optimal time for fetal anatomic assessment,11,12 although others advocate earlier transvaginal scans.13,14 The American College of Obstetricians and Gynecologists,11 the American Institute of Ultrasound in Medicine,15 and the International Society of Ultrasound in Obstetrics and Gynecology16 offer extensive recommendations and guidelines on prenatal screening for congenital heart defects. The minimal elements of a standard examination of the fetal heart include the 4-chamber view, left outflow tract, and right outflow tract. This article emphasizes practical aspects of these guidelines. INITIAL ASSESSMENT
The basic assessment of the fetal heart should include confirming abdominal situs, situs of the heart, and the axis, size, and location of the heart within the fetal chest. It is crucial that fetal laterality is determined based on fetal position. There is a natural tendency to assign the situs based on the fetal heart and stomach being on the same site of the body, but one must be certain of which side is left and which is right (Fig. 1).
Screening for Congenital Heart Disease
Fig. 1. (A) Abdominal situs is ascertained in a transverse view of the fetal abdomen. After determining fetal laterality from position of the fetus in utero, the stomach should be identified on the fetal left side with the descending aorta (D. Aorta) and inferior vena cava (IVC) to the left and right sides of the spine, respectively. A short segment of the umbilical vein (UV) is seen. (B) Cardiac position and axis: the heart is mainly on the left (L) side. The cardiac apex points to the left by 45 20 in relation to the anteroposterior axis of the chest. LA, left atrium; LV, left ventricle; R, right; RA, right atrium; RV, right ventricle. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):350; with permission.)
On a cross section of the fetal chest, the fetal heart is mostly located in the left hemithorax. If an imaginary line is drawn between the fetal spine and the sternum, only part of the right atrium (RA) is located to the right of this line. The axis of the fetal interventricular septum creates an angle of 45 20 with the anterior-posterior line (see Fig. 1).17 Although it is not diagnostic, significant left axis deviation (>75 ) is frequently associated with CHD, which are mostly conotruncal anomalies.18,19 The fetal heart should occupy less than one-third of the fetal chest area in a cross-sectional view of the thorax at the level of 4-chamber view. Similarly, the circumference of the fetal heart should be no more than one-third of the circumference of the fetal chest. However, subjective assessment of the fetal heart is equally adequate. This assessment can easily be accomplished when the operator answers the question “Can I place 2 more hearts in this chest?” The fetal heart rate should be assessed. Rhythm abnormalities that are present can usually be noted during heart rate assessment. General assessment of the fetal heart provides significant information. Abnormalities suspected or noted during general assessment of the heart should prompt careful evaluation of the fetal anatomy, as they are often associated with significant concurrent congenital anomalies (Box 2).
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Box 2 Anomalies can be identified due to concerns during initial fetal heart assessment 1. Situs inversus 2. Abnormal location (shift of the heart with or without axis change) a. CDH b. Agenesis of fetal lung c. Congenital lung abnormalities 3. Axis deviation (extreme left or right axis deviation) a. CDH b. Outflow abnormalities 4. Cardiomegaly 5. Rate and rhythm a. Bradycardia b. Tachycardia c. Irregular rhythm
BASIC ASSESSMENT Four-Chamber View
The 4-chamber view can be obtained in a cross section of the fetal chest directly superior to the diaphragm (Fig. 2) and can be obtained more than 95% of fetuses at 18 weeks.20 Once the situs, axis, location, and size of the fetal heart are assessed, attention should be directed to the other details. First, the number of chambers should be noted. In a normal heart, there are 4 chambers: 2 atria and 2 ventricles. The left atrium (LA) is similar in size to RA. The LA can be identified via the flap of the foramen ovale, which should open into the LA. The posterior surface of the LA is irregular because of the entry of the pulmonary veins. The left ventricle (LV) is similar in size to the right ventricle (RV), although often there is a slight dominance of the right side, which has a slightly higher cardiac output than does the left. The morphologic RV is trabeculated compared with the smooth-looking endocardial surface of the LV, and the RV contains the moderator band, which is a distinct muscular band near the apex of the RV. The RV should be anterior to the LV. The basal portion of the interatrial septum (septum primum), upper portion of the interventricular septum, and atrioventricular (AV) valves form the cardiac crux. Two distinct and separate AV valves should be documented. It should be noted that the tricuspid valve is located anteriorly and slightly displaced apically. On the other hand, if there is no offset, an atrioventricular septal defect (AVSD) should be suspected (Fig. 3). If an AVSD is seen, there is a high risk of trisomy 21. Approximately one-third of fetuses with AVSD have trisomy 21. Conversely, 15% to 20% of newborns with Down syndrome have AVSDs.21 As part of the 4-chamber view the interventricular septum should be assessed. The interventricular septum can be assessed in 2 different planes, long axis and short axis.
Screening for Congenital Heart Disease
Fig. 2. Four-chamber view. The key elements of the normal mid-trimester 4-chamber view include heart area no more than one-third of chest area, right- and left-sided structures approximately equal (chamber size and wall thickness), a patent foramen ovale with its valve in the left atrium, an intact cardiac crux with normal offset of the 2 atrioventricular valves and intact ventricular septum. The morphologic right ventricle (RV) is identified by the presence of the moderator band and tricuspid valve, this valve inserting more apically in the septum than does the mitral valve (normal offset). D. Aorta, descending aorta; L, left; LA, left atrium; LV, left ventricle; R, right; RA, right atrium. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):351; with permission.)
Most commonly the long-axis view of the septum is used for assessment. Large septal defects can be visualized with 2-dimensional gray-scale ultrasonography. However, small defects might only be seen with color Doppler assessment. While visualizing an apical 4-chamber view, there might be drop-out artifacts at the thin membranous portion of the septum, which might be mistaken for a ventricular septal defect (Fig. 4). If color Doppler is used to assess the interventricular septum, velocity scale and gain should be adjusted appropriately to avoid aliasing. Isolated, small interventricular septal defects are among the most difficult lesions to detect.22 Finally, the location of the descending aorta should be noted. Normally, the aorta is located to the left of the spinal column. If the aorta is seen more medially or on the right side of the spinal column, right-sided aortic arch should be suspected and
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Fig. 3. Complete atrioventricular septal defect (CAVSD). Four-chamber heart visualized during systole (A) and diastole (B). This case is a known trisomy 21 fetus with CAVSD. In this case, there is a single common atrioventricular valve (arrow).
attention should be paid at visualization of the three-vessel view (3-VV) (see later discussion). The 4-chamber view alone has a low sensitivity in detecting CHD.23 Although early retrospective studies suggested a potential detection rate as high as 80% to 90%,23,24 later prospective studies have shown lower detection rates. Overall when used as a screening tool in the general population, the 4-chamber view can be expected to detect 30% to 40% of cases of CHD.22,24–26 However, it is not adequate for detecting all types of CHD, such as outflow ventricular septal defects, coarctation, tetralogy of Fallot, transposition of the great arteries, double outlet RV, and truncus arteriosus. Additional views of the fetal heart should be carefully evaluated for a more comprehensive assessment. Defects expected to be associated with an abnormal 4-chamber view include hypoplasia of the RV or LV, AVSD, double-inlet ventricle, Ebstein anomaly, single ventricle, and large ventricular septal defects (Box 3). Screening with the 4-chamber view should also identify dextrocardia, situs inversus, ectopia cordis, cardiomyopathies, pericardial effusion, cardiac tumors, tricuspid or mitral atresia, and stenosis.
Fig. 4. Ventricular septal defect (VSD). Interventricular septum is examined with gray scale (A) and color Doppler (B) ultrasound. Although the interventricular septum appeared normal during gray-scale examination, color Doppler showed an isolated muscular VSD. Arrow points the turbulent blood flow across the VSD.
Screening for Congenital Heart Disease
Box 3 Anomalies can be identified through basic cardiac examination Four-chamber view 1. AVSD 2. Hypoplastic left heart syndrome 3. Mitral stenosis 4. Tricuspid atresia 5. Epstein anomaly 6. Hypertrophy 7. Pericardial effusion 8. Intracardiac masses LVOT 1. Overriding aorta 2. Double outlet RV 3. Aortic valve stenosis 4. Transposition of great arteries 5. Truncus 6. Ventricular septal defect RVOT 1. Pulmonary valve stenosis 2. Transposition of great arteries 3. Truncus arteriosus 3-VV 1. Vascular ring 2. Right-sided aortic arch
Hypoplastic ventricles and AVSDs are the defects most often detected prenatally by the 4-chamber view.22,27,28 Outflow Tracts (Left and Right Ventricular Outflow Tracts)
Many conotruncal abnormalities are missed if only a 4-chamber view is used for CHD screening, as only approximately 30% of conotruncal abnormalities are associated with an abnormal 4-chamber view.29 Aortic and pulmonary outflow tracts, the left and right ventricular outflow tracts, respectively, are a standard part of the comprehensive cardiac evaluation and should be included in every ultrasound examination.11,12 The left ventricular outflow tract (LVOT) is evaluated in 5-chamber, long-axis view (Fig. 5). To obtain this, the long axis of the heart is placed as perpendicular as possible to the ultrasound beam and the ultrasound transducer is rotated at its central axis until the LVOT is visualized. Often a slight tilt of the transducer cephalad from a 4-chamber view accomplishes the same effect in terms of visualizing the LVOT. Continuity between the interventricular septum and the aortic valve and ascending aorta should
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Fig. 5. Left ventricular outflow tract view. This view shows a vessel connected to the left ventricle (LV). It is important to demonstrate continuity between the interventricular septum and the anterior wall of this vessel, which in the normal heart corresponds to the aorta. The aortic valve should not be thickened and should be shown to open freely. The aortic valve is closed in (A) and open in (B). D. Aorta, descending aorta; L, left; LA, left atrium; R, right; RA, right atrium; RV, right ventricle. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):354; with permission.)
be carefully sought, along with continuity between the anterior leaflet of the mitral valve and the posterior wall of the aorta. The aortic valve should move freely without thickening. If there is visible dilation of the ascending aorta immediately superior to the aortic valve, valvular stenosis should be suspected. The right ventricular outflow tract (RVOT) is typically visualized in the short axis view of the heart; this can be achieved by tilting the ultrasound probe toward the fetal head from the 4-chamber view, slightly beyond the position used to see the LVOT. The main pulmonary artery, which originates from the RV and is anterior to the LVOT, should be documented. The pulmonary artery bifurcates, with the main pulmonary artery directed posteriorly toward the ductus arteriosus and the right pulmonary artery wrapping around the aortic root. The main pulmonary artery is slightly bigger in caliber than the aortic root. If a major difference in caliber is suspected, the patient should be referred for a fetal echocardiogram, as this could be a sign of aortic or pulmonary stenosis (Fig. 6). While the outflow tracts are being evaluated it is crucial to document ventriculoarterial concordance; this means that the anterior chamber is the RV and the main artery originating from the RV is the pulmonary artery. Similarly, the posterior ventricle is confirmed as the LV and the main artery originating from the LV is the
Screening for Congenital Heart Disease
Fig. 6. Right ventricular outflow tract view. This view shows a vessel connected to the right ventricle (RV). In the normal heart this vessel crosses over the aorta, which helps in identifying it as the main pulmonary artery (PA). The pulmonary valve should not be thickened and should open freely. In (A), the bifurcation of the PA into both pulmonary branches can be seen. The pulmonary valve is closed. In (B), the plane of insonation is slightly more cephalad. The PA, right pulmonary artery (RPA), and arterial duct are seen. D. Aorta, descending aorta; L, left; LPA, left pulmonary artery; R, right; SVC, superior vena cava. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):355; with permission.)
aorta. It is equally important to document, in real time, that 2 great arteries, pulmonary artery and aorta, cross each other and the pulmonary artery is located anteriorly. The 3-Vessel View and 3-Vessel Trachea View
The 3-VV is a transverse view of the fetal upper mediastinum where normally the oblique section of the main pulmonary artery, the transverse aortic arch, and a cross section of the superior vena cava are arranged in a straight line (Fig. 7).30 When the ultrasound transducer is angled further toward the fetal head, the 3-vessel trachea view (3-VTV) is obtained (Fig. 8). The normal 3-VTV view includes a V-shaped vascular confluence in which one arm is the ductus arteriosus and the other is the transverse aortic arch. In fetuses with vascular ring, this view is distorted, and it
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Fig. 7. Three-vessel view. This view best demonstrates the relationship between the pulmonary artery, aorta, and superior vena cava (SVC) in the upper mediastinum. The correct position and alignment of the 3 vessels as well as their relative size should be noted. The pulmonary artery, to the left, is the largest of the 3 and the most anterior, whereas the SVC is the smallest and most posterior. D. Aorta, descending aorta. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):356; with permission.)
appears like a U, with the ductus arteriosus and aortic arch confluent behind the trachea (Fig. 9). If a 3-VV or 3-VTV cannot be confidently obtained, then right-sided aortic arch, interrupted aortic arch, coarctation of the aorta, RVOT abnormalities, and pulmonary stenosis should be suspected. FETAL ECHOCARDIOGRAM
Several researchers have suggested that one approach to improving detection of fetal cardiac anomalies lies in offering universal fetal echocardiography, with detection rates of 80% or more depending on gestational age.31,32 However, universal fetal echocardiography is not practical and cost-effective at this time.33 A fetal echocardiography examination may be necessary if an abnormality or suspected abnormality is found on the standard examination. Otherwise, fetal echocardiography should be offered to patients with appropriate indications (Box 4).34,35
Screening for Congenital Heart Disease
Fig. 8. Three-vessel and trachea view. This view best demonstrates the transverse aortic arch and its relationship with the trachea. In the normal heart, both the aortic arch and the ductal arch are located to the left of the trachea in a V-shaped configuration. L, left; R, right; SVC, superior vena cava. (From International Society of Ultrasound in Obstetrics and Gynecology, Carvalho JS, Allan LD, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013;41(3):356; with permission.)
Fig. 9. Vascular ring. Vascular rings are congenital anomalies of aortic arch development. In this case aorta and abnormal vessel converge behind the trachea.
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Box 4 Indications for fetal echocardiogram Indications with higher risk profile (estimated >2% absolute risk) Maternal pregestational diabetes mellitus Diabetes mellitus diagnosed in the first trimester Maternal phenylketonuria (uncontrolled) Maternal autoantibodies (SSA/SSB1) Maternal medications ACE inhibitors Retinoic acid NSAIDs in third trimester Maternal first-trimester rubella infection Maternal infection with suspicion of fetal myocarditis Assisted reproduction technology CHD in first-degree relative of fetus (maternal, paternal, or sibling with CHD) First- or second-degree relative with disorder with mendelian inheritance with CHD association Fetal cardiac abnormality suspected on obstetric ultrasound examination Fetal extracardiac abnormality suspected on obstetric ultrasound examination Fetal karyotype abnormality Fetal tachycardia or bradycardia or frequent or persistent irregular heart rhythm Fetal increased NT greater than 95% (3 mm) Monochorionic twinning Fetal hydrops or effusions Indications with lower risk profile (estimated >1% but
