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Congenital heart disease: Prenatal screening, diagnosis, and management

Congenital heart disease: Prenatal screening, diagnosis, and management
Literature review current through: Jan 2024.
This topic last updated: Jun 07, 2023.

INTRODUCTION — Prenatal identification and management of fetal cardiac abnormalities are important because congenital anomalies are a leading cause of infant death, and congenital heart disease (CHD) is the leading cause of death among infants with congenital anomalies. In the United States, CHD is diagnosed in approximately 1 percent of births, accounts for 4 percent of neonatal deaths, and accounts for 30 to 50 percent of deaths related to congenital anomalies [1,2]. In addition to cardiac morbidity and mortality, CHD is also associated with an increased risk for adverse neurodevelopmental outcome, which has been attributed to factors such as associated chromosomal abnormalities, other genetic abnormalities, syndromes, postnatal cardiac dysfunction, perioperative factors in infants who require surgical treatment, and possibly in utero hemodynamic abnormalities. In children with an isolated cardiac abnormality, the frequency of neurodevelopment abnormality also depends on the specific abnormality.

The full spectrum of cardiac abnormalities diagnosed in a postnatal population generally can be detected in the fetus, except for some minor lesions, such as secundum atrial septal defects, which are less likely to be diagnosed in the prenatal period, and patent ductus arteriosus, which is a normal fetal shunt.

This topic will present an overview of prenatal screening and diagnosis of CHD and management of affected pregnancies. Newborn screening and evaluation are reviewed separately. (See "Newborn screening for critical congenital heart disease using pulse oximetry" and "Identifying newborns with critical congenital heart disease".)

BENEFITS AND RISKS OF PRENATAL SCREENING AND DIAGNOSIS OF CHD

Benefits

Parental counseling and preparation – Prenatal diagnosis of CHD provides parents an opportunity to:

Obtain prognostic information prior to birth.

Learn about treatment options for their child before and after birth.

Make decisions concerning the management approach that is best for their family (eg, whether to terminate pregnancy or undergo in utero intervention, if available; nonintervention).

Plan for specific needs at birth (eg, place, timing, and route of delivery; pediatric and obstetric providers; palliative care).

Improvement in neonatal survival – Prenatal diagnosis of CHD may improve newborn survival and other outcomes [3-6], but data are limited despite substantial experience in the identification of fetal cardiac anomalies.

In a meta-analysis of eight observational studies, prenatal diagnosis critical CHD reduced mortality prior to planned cardiac surgery compared with postnatal diagnosis (pooled odds ratio 0.26, 95% CI 0.08-0.84, 1 death/207 prenatal diagnoses versus 31 deaths/821 postnatal diagnoses) [3]. The analysis was limited to patients with comparable anatomy, standard risk, a parental desire to treat, and optimal care. The small number of deaths precludes a clear conclusion about the benefit of prenatal diagnosis, and the observed survival benefit may not apply to newborns who have a prenatal diagnosis of noncritical congenital heart abnormalities or who receive nonoptimal care.

Improvement in neonatal morbidity – Prenatal diagnosis of CHD has also been associated with a reduction in neonatal morbidity, including severe acidosis [7]. Neonates with congenital heart abnormalities that require patency of the ductus arteriosus for systemic or pulmonary blood flow can benefit from early postnatal intervention (prostaglandin E1) to prevent closure of the ductus [8,9]. Similarly, readiness to perform transcatheter intervention (eg, balloon atrial septostomy for neonates with d-transposition of the great arteries [TGA] or hypoplastic left heart syndrome [HLHS], balloon valvuloplasty for patients with critical pulmonic or aortic stenosis) or pacing of complete heart block soon after birth enables rapid stabilization of the postnatal circulation and thus may improve outcome [2,8,10-13].

Possible opportunity for fetal treatment – In some cases, prenatal diagnosis also provides an opportunity for in utero interventions. Transplacental medical therapy improves the prognosis of some fetal arrhythmias, particularly tachycardias (see "Fetal arrhythmias"). Invasive in utero cardiac intervention (eg, aortic or pulmonary balloon valvuloplasty [14], atrial needle septoplasty [15]) may improve the prognosis of some lesions, such as HLHS or severe valvular abnormalities (eg, severe aortic stenosis, pulmonary atresia); however, these interventions are performed at only a few fetal surgery centers and are considered investigational [16,17].

Harms — The main potential harm of screening for CHD prenatally is parental anxiety. A false-negative screen of a newborn with critical cardiac disease can result in birth at a facility unprepared to provide appropriate intervention or postnatal instability that is not appropriately treated because the cardiac cause has not been identified. Less commonly, a false-positive diagnosis could lead to unnecessary intervention, particularly if invasive diagnostic or therapeutic interventions are performed.

THE 18 TO 22 WEEK SCREENING EXAMINATION — The optimum gestational age for screening for structural fetal cardiac anomalies is 18 to 22 weeks of gestation [18]. Fetal cardiac anatomy can be visualized well at this stage of pregnancy, a complete fetal anatomic survey can be performed, and there is time for further evaluation (eg, echocardiogram, genetic studies), if indicated, while the gestational age is still below the limit of postnatal viability.

It should be noted that some fetal cardiac conditions may not be detected until, or may first present after, 18 to 22 weeks of gestation. For example, fetal arrhythmias, myocarditis/cardiomyopathy, heart failure, valvular insufficiency or obstruction, and cardiac tumors have variable onset. In addition, small ventricular or atrial septal defects, minor valve lesions, partial anomalous pulmonary venous connection, and coronary artery anomalies are often not detected prenatally.

Screening at other gestational ages — The structure of the fetal heart can be reasonably assessed as early as 10 weeks of gestation, but visualization of cardiac structures in the first trimester is much better after 12+3 weeks. Consensus guidelines for first-trimester anatomy evaluation, including cardiac screening, in patients at high risk are available [19]. In a meta-analysis of first-trimester sonographic detection of major fetal heart anomalies (63 studies, >300,000 fetuses), screening performance in the non-high-risk (low risk, unselected or mixed risk) population was sensitivity 55.8 percent and specificity 99.98 percent; in the high-risk population, these values were 67.74 and 99.75 percent, respectively [20]. First-trimester screening detected 64 percent of all antenatally detected major heart anomalies in non-high-risk patients and 80 percent of all antenatally detected major heart anomalies in high-risk patients. The detection rate was highest in studies using at least one outflow-tract view or color-flow Doppler imaging. (See 'Standard cardiac evaluation' below.)

Although the heart is larger after 30 weeks of gestation, optimum cardiac views may be difficult to obtain due to less space in the amniotic cavity for free fetal movement to a favorable position and shadowing from increasingly dense fetal ribs and spine.

STANDARD CARDIAC EVALUATION

Four chambers and ventricular outflow tracts — A standard fetal cardiac screening ultrasound examination includes assessment of the four chambers and ventricular outflow tracts (four chamber view, left and right ventricular outflow-tract views [LVOT and RVOT], RVOT/three-vessel view, and three-vessel-and-trachea view). The inclusion of views of the outflow tracts increases the likelihood of identifying conotruncal anomalies such as tetralogy of Fallot, transposition of the great arteries, double outlet right ventricle, and truncus arteriosus, as well as abnormalities of the semilunar valves. This examination is consistent with practice guidelines for sonographic screening of the fetal heart available from the International Society for Ultrasound in Obstetrics and Gynecology [21] and from a collaboration of the American Institute of Ultrasound in Medicine, American College of Radiology, American College of Obstetricians and Gynecologists, Society for Maternal-Fetal Medicine, and Society of Radiologists in Ultrasound [22].

Formal evaluation of rhythm and cardiac function and detailed examination of cardiopulmonary anatomy are not part of a standard fetal cardiac evaluation, but rhythm abnormalities may be noted during routine screening and/or follow-up.

A meta-analysis evaluating the performance of different fetal sonographic protocols for diagnosis of fetal structural heart disease found that inclusion of the outflow tract in the standard examination increased detection rates of structural cardiac disease substantially: sensitivity 65 to 90 percent (four chambers with outlet tract or outlet tract and three vessels with trachea views) versus 52 percent with the four-chamber view alone [23]. However, there were wide variations in detection rates among screening studies, with some studies reporting only 15 percent detection of CHD. Factors affecting sensitivity include type of ultrasound practice (eg, university versus community hospital), operator training and experience, gestational age, maternal weight, fetal position, and type of abnormality [24-26]. Fetal echocardiography is a more sensitive, but less cost-effective, screening approach for pregnancies at low risk of CHD [27].

Procedure — Fetal cardiac imaging should always be performed with the highest possible transducer frequency to maximize image resolution, and at the highest possible frame rate (preferably >50 Hz), due to the rapid movement of the heart, which normally beats at 110 to 160 beats per minute. The standard four-chamber view can be obtained in 95 to 98 percent of second-trimester pregnancies [28,29]. It is obtained either from the long axis or apical view (image 1). Usually it is easiest to start with a standard abdominal circumference plane of the fetal abdomen and angle the transducer cephalad on the fetus. The heart should occupy approximately one-third of the chest area. The four chambers of the fetal heart are seen with the left atrium most posterior (closest cardiac chamber to the spine) and the right ventricle most anterior (closest cardiac chamber to the sternum). The right and left atria and ventricles should be approximately symmetric in size.

Sweeps through the outflow tracts (image 2 and image 3) should be obtained.

The mean axis of the fetal heart is approximately 45 degrees to the left of the midline (normal range 30 to 60 degrees). An increase in the axis can be a marker for outflow tract abnormalities [30,31] or a chest mass. The evaluation of cardiac axis has also been applied to screening in the first trimester [32].

ADVANCED FETAL CARDIAC EVALUATION

Indications for echocardiography — Fetal echocardiography provides more detailed evaluation of fetal cardiovascular structure and function than a basic ultrasound examination. It is performed in fetuses at a higher risk of CHD than would be expected for the general population and in fetuses who have or are suspected of having an abnormality on routine cardiac ultrasound screening. We believe that sonologists and sonographers performing the standard fetal cardiac assessment should have a low threshold for referral to fetal echocardiography to maintain a high detection rate for cardiac anomalies. The American Heart Association, American Society of Echocardiography, and Pediatric and Congenital Electrophysiology Society define increased risk of CHD as >1 percent since the baseline risk of CHD in the general population is ≤1 percent [18].

Indications with a high-risk profile (estimated >2 percent absolute risk) include:

Maternal pregestational (preexisting) diabetes mellitus or diabetes mellitus diagnosed in the first trimester. (See "Pregestational (preexisting) diabetes: Preconception counseling, evaluation, and management".)

Maternal phenylketonuria (uncontrolled). (See "Overview of phenylketonuria", section on 'Phenylalanine embryopathy (maternal PKU)'.)

Maternal autoantibodies (SSA/SSB), especially if a previous child had SSA/SSB-related heart disease. (See "Congenital third-degree (complete) atrioventricular block".)

Maternal use of potential cardiac teratogens (eg, thalidomide, angiotensin-converting enzyme inhibitors, retinoic acid, nonsteroidal anti-inflammatory drugs [NSAIDs] in the third trimester).

Maternal first-trimester rubella infection. (See "Rubella in pregnancy".)

Suspicion of fetal myocarditis because of poor contractility or effusions on standard four-chamber cardiac examination. Fetal myocarditis may be related to maternal viral infections, such as coxsackie virus, adenovirus, parvovirus B19, and cytomegalovirus.

Pregnancy conceived by assisted reproduction technology (ART). (See "Assisted reproductive technology: Infant and child outcomes", section on 'Congenital anomalies'.)

CHD in first-degree relative of fetus (maternal, paternal, or sibling). (See "Pregnancy in women with congenital heart disease: General principles", section on 'Fetal evaluation'.)

First- or second-degree relative of the fetus with a disorder with Mendelian inheritance-associated CHD (eg, Noonan syndrome, tuberous sclerosis, Holt-Oram syndrome, velocardiofacial [DiGeorge] syndrome/22q11.2 deletion, Alagille syndrome, Williams syndrome). (See "Microdeletion syndromes (chromosomes 12 to 22)".)

Fetal cardiac abnormality (structural, functional, arrhythmia) suspected on a standard obstetric ultrasound examination.

Fetal major noncardiac abnormality suspected on a standard obstetric ultrasound examination.

Fetal genetic testing reveals a pathogenic variant, deletion, rearrangement, or aneuploidy (table 1).

Fetal tachycardia or bradycardia, or frequent or persistent irregular heart rhythm. (See "Fetal arrhythmias".)

Fetal nuchal translucency >95th percentile (or ≥3 mm) on first-trimester sonogram (table 2). (See "Enlarged nuchal translucency and cystic hygroma", section on 'Congenital heart disease'.)

Monochorionic twins. (See "Twin pregnancy: Routine prenatal care", section on 'Screening for congenital anomalies'.)

Fetal hydrops or pericardial effusions. (See "Nonimmune hydrops fetalis", section on 'Cardiovascular abnormalities'.)

Indications with a less high-risk profile (estimated >1 and <2 percent absolute risk) include:

Maternal medications (antiseizure, lithium, vitamin A above recommended daily intake, paroxetine, NSAIDs in first/second trimester).

CHD in a second-degree relative of the fetus.

Fetal intraabdominal venous anomaly (eg, agenesis of the ductus venosus).

Fetal echocardiography is not indicated when the risk of cardiac abnormality is no higher than the baseline population risk (≤1 percent), such as a more distant relative with CHD or a close relative with acquired heart disease (eg, mitral valve prolapse), maternal gestational diabetes diagnosed in the third trimester, maternal obesity, abnormal maternal serum analytes or soft markers for aneuploidy, isolated single umbilical artery.

Procedures for advanced fetal cardiac assessment — A scientific statement from the American Heart Association stated that a fetal echocardiogram should include standard views of the four chambers, the left and right ventricular outflow tracts, three vessels and trachea (image 4), aortic and ductal arch, superior and inferior venae cavae, and short- and long-axis, as well as color and pulsed Doppler studies and M-mode to evaluate major veins, valves, rate, rhythm, etc [18]. Guidelines for the performance of fetal echocardiograms are also available from the International Society for Ultrasound in Obstetrics and Gynecology [21] and from the American Institute of Ultrasound in Medicine [33].

Ultrasound systems used for fetal echocardiography should be capable of performing two-dimensional, M-mode, and Doppler imaging [34]. Color and spectral Doppler are used to identify small vessels such as the pulmonary veins, ductus venosus, and ductus arteriosus, to assess valvular competence and flow patterns, and to examine the ventricular septum for defects. M-mode of atrial and ventricular wall motion are useful for analyzing rate and rhythm disturbances.

More advanced imaging techniques, which are beyond the scope of this review, include three-dimensional and four-dimensional echocardiography, tissue Doppler, strain and strain rate imaging, fetal electrocardiography, fetal magnetocardiography, and cardiovascular magnetic resonance imaging [18,35].

Diagnosis of specific cardiac abnormalities — The sonographic appearance of specific anomalies is beyond the scope of this topic, but can be found in UpToDate topics on specific anomalies.

POSTDIAGNOSTIC EVALUATION — When a fetal cardiac abnormality is diagnosed, additional evaluation and follow-up are indicated, as described below. Patients who have a normal standard fetal cardiac evaluation and echocardiography (if performed) generally do not require further evaluation unless there is an increased risk of development of fetal heart disease later in pregnancy.

Assessment for extracardiac anomalies — The identification of a fetal cardiac abnormality should prompt a thorough search for extracardiac abnormalities, since these are detected in at least 20 to 40 percent of cases, depending on the population (eg, midtrimester fetuses versus live borns versus stillborns) [36-38]. Furthermore, cardiac anomalies are part of numerous fetal syndromes [39,40]. An analysis of data compiled from 20 registries of congenital malformations reported that approximately 4 percent of patients with cardiac anomalies had an identifiable syndrome [40]. Contemporary data incorporating advanced genetic testing (eg, exome sequencing) suggest that 25 to 30 percent of congenital heart disease has an identifiable origin, and this number is likely to increase as more sophisticated genetic testing becomes more widely available [41].

Although postnatal neurodevelopment may be affected by CHD, fetal brain magnetic resonance imaging (MRI) is not indicated unless a central nervous system abnormality has been identified on ultrasound and MRI findings will affect pregnancy management. Neuroimaging findings are generally not predictive of postnatal neurodevelopmental outcome. A meta-analysis of studies of prenatal ultrasound and MRI found that brain abnormalities, delay in head growth, and brain-sparing were observed in subgroups of fetuses with CHD [42]. However, the prognostic significance of these findings was unclear because large MRI studies were scarce, ultrasound data were biased toward severe and left-sided heart abnormalities, and long-term follow-up studies correlating prenatal and postnatal findings were limited [43].

Referral to specialists — Given the complexity of fetal CHD, we recommend referral to a multidisciplinary team, including maternal-fetal medicine specialists, pediatric cardiologists, cardiothoracic surgeons, geneticists, and neonatologists. The purpose is to inform the patient about the suspected diagnosis and prognosis and discuss management options before and after delivery, including the preferred site for giving birth.

Genetic assessment — Fetal genetic assessment is indicated because genetic abnormalities are common in fetuses with cardiac abnormalities, even when isolated (table 3) [26,38,44-47]. In one series of 1510 fetuses with prenatally diagnosed CHD, 624 (41 percent) had an abnormal karyotype (aneuploidy in 562 cases, structural chromosomal abnormalities in 62 cases) [48]. The frequency of genetic abnormalities is higher prenatally than postnatally (41 percent [48] versus 13 percent [49]) because in utero death occurs in many cases, such as in the lethal autosomal trisomies (eg, trisomy 9 or 16).

The frequency of fetal aneuploidy varies depending on the structural anomaly. For example [18]:

Atrioventricular septal defect (46 to 73 percent)

Truncus arteriosus (19 to 78 percent)

Double-outlet right ventricle/conotruncal malformations (6 to 43 percent)

Coarctation/arch interruption (5 to 37 percent)

Tricuspid valve dysplasia (including Ebstein malformation, 4 to 16 percent)

Tetralogy of Fallot (7 to 39 percent)

Hypoplastic left heart syndrome (HLHS; 4 to 9 percent)

Pulmonic stenosis/atresia with intact ventricular septum (1 to 12 percent)

Heterotaxy/cardiosplenic syndromes (0 percent)

Transposition of great arteries (0 percent)

In addition, the 22q11 deletion has been associated with several cardiac anomalies, including interrupted aortic arch, truncus arteriosus, ventricular septal defect, and tetralogy of Fallot [18]. (See "DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis".)

The two main approaches for genetic testing are (1) G-banding of fetal cells obtained via amniocentesis, with fluorescent in situ hybridization (FISH) to assess for microdeletions, such as 22q11, not detectable by visual banding techniques, and (2) chromosomal microarray, which detects submicroscopic chromosomal abnormalities in 5 percent of fetuses with ultrasound-detected anomalies and a normal G-band karyotype. Many fetuses with CHD will have microarray abnormalities, especially if noncardiac anomalies are also present [41,50]. Disadvantages of chromosomal microarray are that balanced rearrangements are not detectable and variants of unknown significance may be identified. Either approach is reasonable; the best choice is controversial and depends on factors such as physician/patient preference, cost, suspicion of trisomy or balanced rearrangement versus a microscopic gene defect, and time to obtain definitive results. (See "Prenatal diagnosis of chromosomal imbalance: Chromosomal microarray".)

If these genetic tests are normal and there is a family history of a similar cardiac abnormality, long QT syndrome, or Noonan syndrome, then DNA mutation analysis and direct sequence analysis are options. Even without a suggestive history, exome and whole genome sequencing may show other genetic causes. These tests are expensive and time-consuming [51,52]. (See "Congenital long QT syndrome: Diagnosis" and "Causes of short stature", section on 'Noonan syndrome'.)

Ultrasound follow-up — The necessity, timing, and frequency of serial assessment should be guided by the nature and severity of the lesion, presence of heart failure, anticipated timing and mechanism of progression, and the options available for prenatal and postpartum intervention [18].

At least one follow-up examination early in the third trimester is reasonable to look for abnormalities that progressed in severity or may not have been detectable earlier in gestation, and have peripartum clinical implications. Some causes of progressive fetal cardiac dysfunction include worsening valvular insufficiency or obstruction, increasing obstruction to blood flow in the great arteries, or development/worsening of myocarditis or cardiomyopathy, arrhythmias, or cardiac tumors [18].

The early to mid-third trimester is also an appropriate time to screen for growth restriction, which may be more prevalent in these fetuses or specific subtypes of CHD [53-56].

Evaluation of fetal well-being — Fetuses with cardiac structural anomalies, functional disorders, or arrhythmias that have the potential to compromise tissue oxygen delivery are generally followed with antepartum testing, with intervention if results are abnormal. In one retrospective cohort study, fetuses with a genetic syndrome, extracardiac anomaly, or severe valvular regurgitation were at increased risk for fetal demise: 15 out of 197 fetuses (7.6 percent) with one or more of these risk factors died in utero versus 3 out of 270 fetuses (1 percent) without any of these risk factors [57]. Six of the 22 fetal deaths occurred at 20 to 23 weeks and 16 occurred at 26 to 41 weeks (including three deaths at 37, 39, and 41 weeks).

However, there is no strong evidence of the value of this practice and antepartum fetal testing with the nonstress test, biophysical profile, or fetal movement count has not been evaluated specifically in this clinical setting. The type of test depends on the underlying abnormality; for example, the biophysical profile is particularly useful in fetuses with arrhythmias and provides an opportunity to monitor development or progression of hydrops in any fetus with severely altered hemodynamics. (See "Overview of antepartum fetal assessment".)

Fetal therapy — Transplacental medical therapy can improve the prognosis of some fetal arrhythmias. (See "Fetal arrhythmias".)

Invasive in utero intervention (eg, aortic or pulmonary balloon valvuloplasty [14], atrial needle septoplasty [15]) may improve the prognosis of some lesions, such as HLHS or severe valvular abnormalities (eg, severe mitral regurgitation, aortic stenosis, pulmonary atresia); however, these interventions are performed at only a few fetal surgery centers and are considered investigational [16].

DELIVERY PLANNING — Delivery should be planned at a facility with the appropriate level of care for the mother and neonate. Neonates with ductal-dependent lesions and most with critical cardiac lesions (table 4) should be delivered at a facility with a level III neonatal intensive care unit (NICU) and pediatric cardiology expertise. If this is not feasible, transport arrangements should be established in advance of the delivery.

Timing and route — Cesarean birth is performed for standard obstetric indications, as there is no evidence that route of delivery of fetuses with CHD affects outcome [58]. Based on observational data, induction of labor or scheduled cesarean before 39 weeks of gestation is not recommended in the absence of standard maternal or fetal concerns about well-being, as even early term delivery has been associated with worse outcomes after neonatal cardiac surgery [18,59-61]. One exception may be single ventricle defects, where earlier delivery may be beneficial [62-64]. (See "Hypoplastic left heart syndrome: Anatomy, clinical features, and diagnosis".)

Delivery room care — Risk assessment for anticipated compromise in the delivery room or during the first few days of life is specific to the abnormality. Initial management of newborns with CHD at risk of postnatal hemodynamic instability or respiratory compromise during the fetal-neonatal transition is reviewed separately. (See "Diagnosis and initial management of cyanotic heart disease in the newborn", section on 'Initial management'.)

A committee from the American Heart Association made the following recommendations [18]:

Specialized delivery room care is recommended for fetuses with:

d-transposition of the great arteries.

Sustained or uncontrolled tachyarrhythmias with heart failure or hydrops fetalis.

Specialized delivery room care planning is reasonable for fetuses with:

Hypoplastic left heart syndrome with restrictive or intact atrial septum and abnormal pulmonary vein flow (pulmonary vein forward/reversed flow ratio <3) or abnormal hyperoxia test in the third trimester.

Complete heart block and low ventricular rate, cardiac dysfunction, or hydrops fetalis.

Specialized delivery room care planning may be considered in fetuses with:

Tetralogy of Fallot with absent pulmonary valve.

Ebstein anomaly with hydrops fetalis.

Total anomalous pulmonary venous return, obstructed.

Specialized delivery room care is not needed for fetuses with:

Mild tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect.

Shunt lesions.

Most ductal-dependent lesions, but initiation of prostaglandin E1 may be indicated in the NICU.

Controlled arrhythmias.

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Congenital heart disease in infants and children".)

SUMMARY AND RECOMMENDATIONS

Rationale for screening – We suggest prenatal screening for fetal cardiac abnormalities (Grade 2C). Prenatal diagnosis provides parents an opportunity to obtain prognostic information prior to birth, learn about treatment options before and after delivery, reach decisions concerning the management approach that is best for their family, and plan for specific needs at birth. Depending on the lesion, prenatal diagnosis may reduce perinatal morbidity and mortality. (See 'Benefits and risks of prenatal screening and diagnosis of CHD' above.)

Timing – The optimum gestational age for screening for structural fetal cardiac anomalies is 18 to 22 weeks of gestation. However, some fetal cardiac conditions may not be detected until, or may first present, later in gestation. Fetal arrhythmias, myocarditis/cardiomyopathy, heart failure, valvular insufficiency or obstruction, and cardiac tumors have variable timing of onset. Small ventricular or atrial septal defects, minor valve lesions, partial anomalous pulmonary venous connection, and coronary artery anomalies are often not detected prenatally. (See 'The 18 to 22 week screening examination' above.)

Basic fetal cardiac assessment – A basic fetal cardiac assessment should include a four-chamber view and the outflow tracts and be a part of every second-trimester fetal evaluation, regardless of risk factors. Sonologists and sonographers performing these assessments should have a low threshold for referral to fetal echocardiography to maintain a high detection rate for cardiac anomalies. (See 'Standard cardiac evaluation' above.)

Fetal echocardiography – Fetal echocardiography should be performed in fetuses at a higher risk of congenital heart disease (CHD) than would be expected for the general population (see 'Advanced fetal cardiac evaluation' above). We agree with the American Institute of Ultrasound in Medicine, International Society for Ultrasound in Obstetrics and Gynecology, American Heart Association (AHA), American Society of Echocardiography, and Pediatric and Congenital Electrophysiology Society guidance describing fetal, maternal, and familial factors conferring an increased risk of fetal cardiac disease. (See 'Indications for echocardiography' above.)

A fetal echocardiogram should include standard views of the four chambers, the left and right ventricular outflow tracts, three vessels and trachea (image 4), aortic and ductal arch, superior and inferior venae cavae, and short- and long-axis, as well as color and pulsed Doppler studies and M-mode to evaluate major veins, valves, rate, rhythm, etc. (See 'Procedures for advanced fetal cardiac assessment' above.)

In fetuses undergoing echocardiography, a detailed fetal anatomic survey should also be performed. Extracardiac abnormalities are detected in at least 20 to 40 percent of fetuses with a cardiac abnormality. Approximately 4 percent of patients with cardiac anomalies have an identifiable syndrome. (See 'Assessment for extracardiac anomalies' above.)

Genetic testing – There is an increased risk of genetic abnormalities, particularly aneuploidy or 22q11 deletion, in fetuses with CHD; the frequency depends on the specific lesion. Current approaches for testing include (1) G-banding of fetal cells obtained via amniocentesis, with fluorescent in situ hybridization (FISH) to assess for microdeletions, such as 22q11, not detectable by visual banding techniques, and (2) chromosomal microarray, which detects submicroscopic chromosomal abnormalities in 5 percent of fetuses with ultrasound-detected anomalies and a normal G-band karyotype. Either approach is reasonable. When karyotype and microarray are normal, especially in the presence of extracardiac malformations, exome or whole genome sequencing may provide further information. (See 'Genetic assessment' above.)

Frequency of sonographic follow-up – The necessity, timing, and frequency of follow-up ultrasound assessment should be guided by the nature and severity of the lesion, presence of heart failure, anticipated timing and mechanism of progression, and the options available for prenatal and postpartum intervention. We suggest at least one follow-up examination early in the third trimester to look for abnormalities that progressed in severity or may not have been detectable earlier in gestation. For most lesions other than small muscular ventricular septal defects, we typically perform serial examinations at least monthly to assess for disease progression and further patient counseling. (See 'Ultrasound follow-up' above.)

Delivery – Delivery should be planned at a facility with the appropriate level of care for the mother and neonate. Early delivery and cesarean delivery are generally performed only for standard obstetric indications. (See 'Timing and route' above.)

Risk assessment for anticipated compromise in the delivery room or during the first few days of life is specific to the disease. We agree with AHA guidance for delivery room preparation and neonatal care. (See 'Delivery room care' above.)

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Topic 6755 Version 48.0

References

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