REVIEW URRENT C OPINION

Pediatric prenatal diagnosis of congenital heart disease Stacy A.S. Killen, Jessica H. Mouledoux, and Ann Kavanaugh-McHugh

Purpose of review Fetal cardiology is a rapidly evolving field. Imaging technology continues to advance as do approaches to in-utero interventions and care of the critically ill neonate, with even greater demand for improvement in prenatal diagnosis of congenital heart disease (CHD) and arrhythmias. Recent findings Reviewing the advances in prenatal diagnosis of CHD in such a rapidly developing field is a broad topic. Therefore, we have chosen to focus this review of recent literature on challenges in prenatal detection of CHD, challenges in prenatal counseling, advances in fetal arrhythmia diagnosis, and potential benefits to patients with CHD who are identified prenatally. Summary As methods and tools to diagnose and manage CHD and arrhythmias in utero continue to improve, future generations will hopefully see a reduction in both prenatal and neonatal morbidity and mortality. Prenatal diagnosis can and should be used to optimize location and timing of delivery and postnatal interventions. Video abstract http://links.lww.com/MOP/A21 Keywords congenital heart disease, fetal arrhythmias, prenatal diagnosis

INTRODUCTION Fetal cardiology has spanned more than three decades and has evolved from a primarily diagnostic field to a field that encompasses prenatal counseling and prenatal therapies, including arrhythmia management and catheter-based, in-utero interventions. Technologic advances in fetal echocardiography have allowed better image resolution at earlier gestations, including the first and second trimesters. New modalities such as color flow mapping, strain, tissue Doppler, and three-dimensional imaging have allowed better understanding of fetal cardiovascular physiology and disease progression. With extensive literature in a broad and rapidly developing field, we have chosen to focus this review on topics covered in recent literature, including advances in prenatal screening, prenatal counseling, and fetal arrhythmia diagnosis, and on the potential benefits of prenatal diagnosis of congenital heart disease (CHD).

PRENATAL SCREENING FOR CONGENITAL HEART DISEASE Referrals to fetal cardiologists are typically made for fetal, maternal, or familial risk factors for CHD www.co-pediatrics.com

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[1,2 ], but the majority of fetuses with CHD have no prenatal risk factors [1,3]. Successful fetal diagnosis is dependent on effective obstetric screening programs. Historically, there has been significant variability in the sensitivity of obstetric screening, with studies in the 1980s and 1990s showing detection rates ranging from 4.5 to 81% [4–10]. Recent studies continue to show lower prenatal detection rates for CHD than would be hoped, with great variability among centers. Oster et al. [11 ], reviewing 2000–2005 data for metropolitan Atlanta, reported only an 11.4% prenatal detection rate for CHD and a 30% prenatal detection rate for a subset of critical lesions likely to require intervention in the first year of life. Sekar et al. [12 ] found that only &

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Department of Pediatrics, Division of Pediatric Cardiology, Vanderbilt University, Nashville, Tennessee, USA Correspondence to Ann Kavanaugh-McHugh, MD, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Department of Pediatrics, Division of Pediatric Cardiology, 2200 Children’s Way, Suite 5230, Nashville, Tennessee 37232-9119, USA. Tel: +1 615 322 7447; e-mail: [email protected] Curr Opin Pediatr 2014, 26:536–545 DOI:10.1097/MOP.0000000000000136 Volume 26  Number 5  October 2014

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Pediatric prenatal diagnosis of congenital heart disease Killen et al.

KEY POINTS  Successful fetal diagnosis is dependent on effective prenatal screening programs, and education and experience remain key to improving prenatal detection.  Educating fetal cardiologists on counseling techniques that increase parental understanding of CHD and mitigate the negative psychological impact of such a diagnosis will enhance the beneficial effects of prenatal counseling.  The primary challenge in the diagnosis and management of fetal arrhythmias remains the tools used for detection; fetal cardiologists and fetal electrophysiologists acknowledge the need for readily accessible tools, like fMCG, that can record electrical activity rather than merely infer electrical activity from mechanical events.

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 Prenatal diagnosis of CHD can and should be used to optimize location and timing of delivery and surgery.  Neurocognitive deficits are increasingly recognized as an important issue for children and adults with CHDs, and prenatal interventions to prevent or reduce the occurrence and severity of these deficits could significantly impact quality of life. (b)

43% of infants with CHD requiring treatment in the first months of life were diagnosed prenatally in the greater Cincinnati region between 2007 and 2009. Similarly, Trines et al. [13 ] reported a prenatal detection rate of 50% for infants with CHD requiring treatment during infancy in Alberta, Canada, between 2007 and 2010. The most encouraging recent data are those of Landis et al. [14 ], who reported a 68% detection rate in infants with hemodynamically significant CHD admitted to a New York neonatal intensive care unit between 2004 and 2009. These recent studies show a broad range of detection rates, similar to other studies of the past 15 years, which report overall detection rates of 22.5–65.5% for CHD and rates of 36–80% for major CHD [15–23]. Although socioeconomic factors and maternal body habitus do not appear to have a significant impact on obstetric detection of CHD, the content of the scan and the level of expertise of the scanner are keys to making the diagnosis [11 ,12 ,21]. Lesions with abnormal four-chamber views are more likely to be diagnosed prenatally [13 ,16,21]. Incorporating outflow tract views in obstetric screening is crucial to increasing prenatal diagnosis [20,24–30] (Fig. 1). Recent, more stringent guidelines for obstetric examinations may increase CHD detection. Although previous obstetric screening guidelines by the American Institute of Ultrasound in Medicine &

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FIGURE 1. The importance of outflow tract images. Panel A shows a normal four-chamber view. Panel B shows the origin of the pulmonary artery (MPA) from the left ventricle. Panel C shows the origin of the aorta (Ao) from the right ventricle. Infants with transposition of the great arteries, frequently missed on prenatal screening, may require emergent atrial septostomy in the first hours of life. LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.

recommended outflow tract imaging if feasible, the 2013 guidelines include outflow tract imaging as a standard element of the obstetric screening evaluation [31 ]. Similarly, the 2013 guidelines by the International Society of Ultrasound in Obstetrics and Gynecology include routine imaging of the cardiac outflow tracts as ‘an integral part of the fetal

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screening examination’ [32 ]. Routine implementation of these views has the potential to significantly increase the yield of obstetric screening examinations. Higher CHD detection rates are also associated with proximity to a high-risk or university-based practice, suggesting that education and expertise remain key to improving prenatal detection [13 ,16,17,21]. Gardiner et al. [33 ] in the United Kingdom showed consistent high levels of detection in a unit associated with a tertiary care center, steady improvement over time in a unit supported by telemedicine interactions with a perinatal cardiologist, and a steady lower level of performance in a third unit without contact with a tertiary care facility or telemedicine support. Access to individuals with expertise in perinatal cardiology, for second opinions and training opportunities, appeared crucial for developing or maintaining a consistent high level of prenatal detection. Against a background of considerable variability in CHD detection rates across the United Kingdom, these authors advocated direct feedback through registries examining performance at individual centers to guide quality improvement. Many studies demonstrate that continuing medical education improves the obstetric detection rate of CHD [17,20,25,29,34–36]. The type of continuing medical education most helpful in achieving and maintaining proficiency may vary between institutions and settings and between professionals with different levels of medical training. Working with a small group of midwives in a tertiary care center, Asplin et al. [37 ] recently showed that the rate of prenatal diagnosis of CHD more than doubled after a postgraduate training program in obstetric ultrasound, with the most pronounced improvement among the most experienced midwives. Telemedicine support on a case-by-case basis may have a significant and continuing impact on prenatal detection at an individual center over time [33 ]. Less time-intensive educational efforts may also have a significant role. Significant improvement in CHD detection has been reported for obstetric radiographers after attendance of a 2.5 day course [38]. In an era in which quality improvement is a major healthcare focus, evaluating the impact of educational approaches to prenatal cardiac screening is essential to progress in this area. &

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PRENATAL COUNSELING FOR CONGENITAL HEART DISEASE Effective prenatal counseling is one of the fetal cardiologist’s most important roles. When a prenatal diagnosis of CHD is made, the cardiac defect and 538

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its associated morbidity and mortality should be clearly communicated to the family [39]. Discussion should include prognosis, possible treatment strategies, and, depending on gestational age at the time of diagnosis, the option of pregnancy termination [2 ]. In surveys, parents of children with CHD report that they would have preferred more information prenatally than cardiologists provided, especially in regard to quality of life [40 ]. Prenatal diagnosis provides the family with an opportunity to learn about the heart defect and its treatment options and to plan for the expected postnatal surgical and hospital course. However, the experience of prenatal testing for possible congenital anomalies is stressful for families, and referral for fetal echocardiography is associated with maternal anxiety [41]. Recently, prenatal diagnosis of CHD has been shown to be associated with significant maternal posttraumatic stress (39%), depression (22%), and anxiety (31%) [42 ]. Although there are many different approaches to prenatal counseling, demonstration of compassion and empathy by the fetal cardiologist not only improves parental satisfaction but may also influence parents’ perceptions and management decisions [43 ]. Educating fetal cardiologists on counseling techniques that increase parental understanding of CHD and mitigate the negative psychological impact of such a diagnosis will enhance the beneficial effects of prenatal counseling. &&

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PRENATAL DIAGNOSIS OF FETAL ARRHYTHMIAS Ten to twenty percent of referrals to fetal cardiologists are for the evaluation of fetal cardiac rhythm. Fetal arrhythmias may complicate as many as 1–3% of pregnancies and include benign arrhythmias, such as premature atrial contractions and premature ventricular contractions, and more serious and potentially life-threatening arrhythmias, such as atrioventricular (AV) block, supraventricular tachycardia, ventricular tachycardia, and torsades de pointes [44]. Fetal cardiologists and fetal electrophysiologists acknowledge the need for readily accessible tools for the diagnosis and management of fetal arrhythmias that can record electrical activity rather than merely infer electrical activity from mechanical events. Fetal electrocardiography suffers from a low signal-to-noise ratio and is not practically applicable. Fetal echocardiography, which infers electrical activity from mechanical events, has been the primary clinical modality for the evaluation and management of fetal arrhythmias [45–48]. Fetal magnetocardiography (fMCG), a tool that allows more detailed assessment of fetal Volume 26  Number 5  October 2014

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arrhythmias and cardiac conduction times by directly recording the magnetic signal generated by fetal cardiac electrical impulses, is currently only available at a few centers and allows resolution of such important electrophysiological details as P-wave morphology, QRS duration, QRS axis, QT interval, T-wave alternans, or preexcitation [49 ]. (Fig. 2, [50]) As Dr Van Hare [49 ] astutely observed, ‘one cannot provide an accurate prognosis unless one starts with the correct diagnosis’. Two fetal arrhythmias included in recent literature that illustrate the importance of appropriate diagnostic tools are long QT syndrome (LQTS) and autoimmune heart block. Fetal diagnosis of LQTS has been particularly challenging by echocardiography alone, and has been extensively studied &

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recently, primarily using fMCG. Long QT syndrome, a family of inherited defects in cardiac ion channels associated with lethal ventricular arrhythmias, is thought to be one cause of intrauterine fetal death [51 ]. A recent review reports that findings of a slightly reduced fetal heart rate (FHR) of 110–120 bpm, bradycardia of less than 110 bpm, AV block, tachyarrhythmias, reduced FHR variability, or clinical signs of heart failure are associated with LQTS [52 ]. Ishikawa et al. [52 ] notes that ‘a much higher prevalence of LQTS can be reasonably expected among fetuses with a slightly reduced FHR of 110–120 bpm than among the general population’. Variable degrees of AV block and polymorphic ventricular tachycardia are also both highly suggestive of LQTS [53].

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FIGURE 2. Fetal cardiac conduction and repolarization by fetal magnetocardiography (fMCG). Representative averaged fetal magnetocardiographic waveforms depicting variation of QTc with heart rate. (a) Normal individual at 39 weeks’ gestation. (b) Normal individual at 37 weeks’ gestation. (c) Individual at 27 weeks’ gestation who had ventricular tachycardia at 25 weeks’ gestation. (d) Individual with supraventricular tachycardia (SVT) at 27 weeks’ gestation. (e) Individual with SVT at 31 weeks’ gestation. (f) Same individual as in (c) during ventricular tachycardia at 25 weeks’ gestation. (g) Individual with complete atrioventricular block (CAVB) at 30 weeks’ gestation. (h) Individual with CAVB at 25 weeks’ gestation. (i) Individual with blocked premature atrial contractions (PACs) at 20 weeks’ gestation. Waveforms taken from channel with largest signal amplitude. Amplitudes given in units of femtotesla (femtotesla _ 10–15 tesla). Reprinted from [50]. 1040-8703 ß 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins

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Recently, Cuneo et al. [54 ] evaluated a large cohort of at-risk fetuses and found that fMCG is able to accurately diagnose LQTS with high sensitivity and specificity. They also found that T-wave alternans is strongly associated with more severe phenotypes [54 ]. In their study, fetuses with torsades de pointes also demonstrated second-degree AV block, T-wave alternans, and QRS alternans; markedly prolonged corrected QT intervals predicted torsades de pointes [54 ]. Because QTc prolongation sometimes does not develop until later in pregnancy, a single screening fMCG at an early gestational age may fail to detect some cases of LQTS. These authors also found that lower FHRs and nonreactive heart rate patterns are strongly associated with LQTS; in fact, sinus bradycardia is the most common rhythm manifestation of fetal LQTS [54 ]. They recommend that fetuses with a family history of LQTS, with complex in-utero rhythms, and with low-for-gestational-age heart rates be monitored for development of LQTS rhythms and considered for fMCG screening [54 ].‘ Early detection and management of congenital heart block also remains a challenge and would be helped tremendously by the availability of fMCG. Congenital complete heart block (CCHB) without structural cardiac abnormalities occurs in about one in 20 000 live births and is usually associated with transplacental passage of maternal autoantibodies reactive with SSA/Ro and SSB/La [55]. Most affected children require permanent pacemaker implantation, with 60% requiring pacing during the neonatal period [55,56]. Although greater than 85% of mothers with affected infants are anti-SSA/Ro antibody-positive, only 1–5% of babies exposed to maternal SSA/Ro antibodies develop CCHB, independent of the mother’s disease status [55]. Although CCHB only occurs in 2–3% of mothers with SSA/SSB antibodies, the incidence increases to 16% with a prior affected child. CCHB is most commonly detected between 20 and 24 weeks’ gestation [55,57]. Serial fetal echocardiograms in mothers with anti-SSA/Ro antibodies have demonstrated progression from normal sinus to advanced heart block in less than 2 weeks [57]. The PRIDE study and others have suggested that maternal dexamethasone therapy may reverse first-degree or second-degree AV block [57–59]. Unfortunately, once third-degree (complete) AV block develops, it appears irreversible, despite maternal steroid treatment [56]. Cardiomyopathy occurs in 15% of cases, with evidence of endocardial fibroelastosis (EFE) [56,60] (Fig. 3). EFE, low ventricular rates, and hydrops fetalis are risk factors for a poor fetal outcome, including premature delivery and fetal demise [56,60]. Current guidelines &&

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recommend treatment with steroids when complete heart block is accompanied by signs of EFE, myocarditis, congestive heart failure, or hydrops [56,59]. Investigators have tried to identify a biomarker for less severe or incomplete disease that could predict which fetuses will be at risk for progressing to irreversible, complete heart block [61 ]. The PRIDE study defined mechanical PR interval prolongation or first-degree AV block as this biomarker and recommended screening using a schedule of frequent echocardiographic evaluations between 18 and 34 weeks’ gestation, evaluating for PR prolongation, AV valve insufficiency, or atrial echodensities [58]. However, there is currently no conclusive &

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FIGURE 3. Autoimmune myocarditis. Panel A is a fourchamber view of the fetal heart at 28 2/7 weeks’ gestation. Arrowheads denote foci of increased echogenicity associated with the mitral valve apparatus consistent with endocardial fibroelastosis in this fetus with complete heart block and maternal SSA and SSB antibodies. Panel B is an m-mode rhythm strip demonstrating complete heart block, with a ventricular rate of 63 bpm and relationship between ventricular contractions (v) and atrial contractions (arrowheads) in the fetus. LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle. Volume 26  Number 5  October 2014

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proof that PR prolongation predicts progression to complete heart block [61 ]. Although various treatments for first-degree and second-degree AV block have been proposed, including steroids, intravenous immunoglobulins, and plasmapheresis, it is difficult to determine the true efficacy of these therapies unless we know whether ‘reversion’ to normal sinus rhythm may occur in the absence of any treatment. Phoon et al. [61 ] call for a multicenter randomized trial comparing observation alone with treatment for first-degree AV block. &

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IMPACT OF PRENATAL DIAGNOSIS OF CONGENITAL HEART DISEASE ON PATIENT OUTCOMES Although expected to be associated with improved postnatal survival and operative course, a prenatal diagnosis of CHD has correlated with improved outcomes in only a few studies [62–67]. Most investigations have shown no reduction in hospital length of stay, duration of mechanical ventilation, requirement for postoperative support, or incidence of postoperative complications [13 ,62–65,68–73] and have shown no improvement in postoperative or overall survival [13 ,14 ,18,63,65,68–71,73–84]. Some investigators have in fact reported longer hospital stays and decreased survival for some infant populations with prenatally diagnosed CHD [11 ,13 ,71,72,81,85–87]. This troubling lack of benefit to the prenatal diagnosis of CHD has been attributed to a more severe spectrum of disease in prenatally diagnosed infants. Infants with single ventricles and extracardiac anomalies, who have higher recognized postnatal mortality, are more likely to be diagnosed prenatally [14 ,28,63,71,74,85]. Postnatally diagnosed infants with the most severe disease may die before transfer to a tertiary care center. Their exclusion from series evaluating postnatal course may favorably influence statistics for infants with postnatally diagnosed disease (Fig. 4). The more severe forms of disease within individual lesions may also be more easily recognized prenatally. For example, infants diagnosed prenatally with coarctation of the aorta have smaller left-sided structures postnatally than those diagnosed after birth [72]. Infants with prenatally diagnosed pulmonary atresia are more likely to have a monopartite or bipartite right ventricle than those diagnosed postnatally [86]. It is to this more severe spectrum of disease that Oster et al. [11 ] attributed their findings that infants with CHD lesions requiring intervention in the first year of life were more likely to be diagnosed prenatally, and when diagnosed prenatally, more likely &

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FIGURE 4. Hypoplastic left heart syndrome with restrictive atrial septum. Panel A shows a markedly abnormal fourchamber view, with large right ventricle, no visible left ventricular chamber, and the atrial septum bowing to the right. Panel B demonstrates the Doppler pattern in the pulmonary veins. The positive deflections (arrow heads) are prominent reverse ‘a’ waves noted in the setting of atrial level restriction. Infants with HLHS and restrictive atrial septum require immediate intervention in the perinatal period and will likely die if not diagnosed prenatally. They are candidates for in-utero intervention. Even with successful intervention, these infants have a poor prognosis in staged repair, presumably because of abnormal development of the pulmonary vasculature. LA, left atrium; RA, right atrium; RV, right ventricle.

to have a higher mortality than their postnatally diagnosed counterparts. Similarly, Wright et al. [87] showed that infants diagnosed prenatally had higher Risk Adjustment in Congenital Heart Disease (RACHS) scores, a measure of operative complexity, than postnatally diagnosed infants. Prenatal diagnosis has also been identified as a risk factor for unplanned re-intervention after neonatal cardiac surgery, with attendant increased hospital mortality [88 ]. This association was present even when controlling for RACHS scores, suggesting that prenatally diagnosed infants have a more severe phenotype [88 ]. Therefore, it seems appropriate to consider prenatal diagnosis as a marker for more severe disease linked to poorer outcomes [11 ]. What advantages, then, does prenatal diagnosis of CHD offer? The chief benefit is improved

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preoperative status. With few exceptions [13 ,64,68, 71,79,89], studies show less preoperative acidosis [62,66,69,70,76,78,80,90 ,91], higher preoperative oxygen saturations [13 ,73], lower incidence of shock from ductal closure [65,91], and less preoperative cardiac, renal, and multiorgan compromise in prenatally diagnosed infants [62,65,66,69,70,76, 80,90 ]. They also require less preoperative ventilatory support [14 ,16,69,71,80], less inotropic support, less fluid resuscitation [64,66,76], and less antibiotic and prostaglandin therapy [16,71]. Infants with prenatally diagnosed CHD are less likely to require preoperative catheterization or emergency surgery [14 ,71] and have a lower incidence of preoperative and perioperative neurologic events, such as seizures or coma [78]. Although improvements in preoperative condition in prenatally diagnosed infants have not yet been shown to have a significant impact on long-term survival, they may have importance in other long-term outcomes. Many of the markers of clinical stress and compromise minimized by prenatal diagnosis negatively impact neurocognitive outcomes [78,92,93 ]. In an exciting recent publication, Calderon et al. [92] reported improved neurocognitive outcomes for prenatally diagnosed infants with d-transposition of the great arteries compared with their postnatally diagnosed peers. Neurocognitive deficits are increasingly recognized as an important issue for children and adults with CHD, and prenatal and postnatal interventions to prevent or reduce the occurrence of these deficits could significantly impact quality of life. Improved preoperative condition may also be associated with improved myocardial performance. Markkanen et al. [90 ] found better right ventricular global performance, better systolic and diastolic global strain and myocardial velocity, and better segmental wall motion scores in prenatally diagnosed infants with hypoplastic left heart syndrome (HLHS). Other investigators have reported better right ventricular performance and a lower incidence of tricuspid insufficiency in HLHS patients diagnosed prenatally [65,69]. Szwast and Rychik [94 ] have suggested that prenatal diagnosis is one of many key factors that may contribute to preservation of right ventricular performance over a patient’s lifetime. Importantly, prenatal CHD diagnosis also allows specific planning for the perinatal period, which can be used to optimize outcomes. Mortality rates differ for infants with HLHS born at varying distances from a surgical center, which has been attributed to access to a dedicated team able to provide ‘immediate, effective resuscitation and treatment’ [95 ]. Infants greater than 90 min from a surgical &

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center have the greatest mortality, influenced by a higher pretransport mortality. Infants at an intermediate distance have an intermediate mortality rate, associated with a higher presurgical mortality, than those born within 10 min of the surgical center. As 36% of the deaths in this study population were preoperative deaths, the potential impact of changes in delivery planning is significant. Morbidity and mortality may be reduced by avoiding the potential instability encountered in transport and by using dedicated care teams familiar with the intricacies of managing newborns with CHD [2 ,94 ]. Delivery at or near a surgical center should not be at the expense of gestational age. Some series show an increased likelihood of earlier delivery for prenatally diagnosed infants [14 ,69,71,79,82]. The final weeks of pregnancy are very important for these infants. Cnota et al. and Costello et al. [96,97] showed a statistically significant difference in surgical mortality by gestational age in weeks in the final weeks of pregnancy. Goff et al. [98] reported a difference in neurodevelopmental outcomes for infants delivered at 39–40 weeks compared with those born at 36–38 weeks. Only a few studies have shown a decreased surgical age for prenatally diagnosed infants [69,76,78,91], suggesting surgery may be seen as elective in this more stable patient population, potentially increasing hospital lengthof-stay. Prenatal diagnosis can and should be used to optimize location and timing of delivery and surgery. &&

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FUTURE DIRECTIONS/CONCLUSION Although the prenatal diagnosis of CHD has not been clearly demonstrated to improve mortality, it has been shown to improve morbidity, impacting other outcomes, including long-term neurocognitive function. Prenatal diagnosis also can improve the preoperative state of newborns with critical CHD by optimizing timing and location of delivery at a tertiary care center by care teams familiar with the intricacies of managing newborns with CHD. However, access to the education and expertise needed to successfully and routinely detect CHD by prenatal screening remains suboptimal and should be a future area of focus. Collaboration between perinatologists and fetal cardiologists is needed to determine the optimal timing of delivery for both mother and fetus, as preterm and even early-term delivery can negatively impact surgical outcomes for newborns with critical congenital heart disease. Future investigation must also explore approaches to optimally educating families in a supportive framework that minimizes the stress associated with prenatal diagnosis. Prenatal Volume 26  Number 5  October 2014

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detection of fetal arrhythmias has been shown to improve both morbidity and mortality, but easily accessible tools to improve diagnosis of not only bradyarrhythmias and tachyarrhythmias, but also of conduction system abnormalities are needed. Bringing technology, such as fMCG, which can more directly record fetal electrical signals, to more centers across the globe is an important goal for this decade. Fetal cardiology is an exciting, evolving field that is ripe for ongoing improvements in diagnosis and management to further reduce intrauterine and perinatal death and to improve the long-term outcomes of children with CHD. Acknowledgements None. Conflicts of interest There are no conflicts of interest.

REFERENCES AND RECOMMENDED READING Papers of particular interest, published within the annual period of review, have been highlighted as: & of special interest && of outstanding interest 1. Rychik J, Ayres N, Cuneo B, et al. American Society of Echocardiography guidelines and standards for performance of the fetal echocardiogram. J Am Soc Echocardiogr 2004; 17:803–810. 2. Donofrio MT, Moon-Grady AJ, Hornberger LK, et al. Diagnosis and treatment && of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation 2014; 1291:2183–2242. doi: 10.1161/01.cir. 0000437597.44550.5d. This comprehensive review of the current literature by the writing group appointed by the American Heart Association of current literature addresses the fetal diagnosis of heart disease and arrhythmias, fetal assessment, and current therapies and approaches to management. 3. Friedberg MK, Silverman NH. Changing indications for fetal echocardiography in a University Center population. Prenat Diagn 2004; 24:781–786. 4. Chaoui R. The four-chamber view: four reasons why it seems to fail in screening for cardiac abnormalities and suggestions to improve detection rate. Ultrasound Obstet Gynecol 2003; 22:3–10. 5. Fernandez CO, Ramaciotti C, Martin LB, et al. The four-chamber view and its sensitivity in detecting congenital heart defects. Cardiology 1998; 90:202– 206. 6. Friedman AH, Kleinman CS, Copel JA. Diagnosis of cardiac defects: where we’ve been, where we are and where we’re going. Prenat Diagn 2002; 22:280– 284. 7. Hafner E, Scholler J, Schuchter K, et al. Detection of fetal congenital heart disease in a low-risk population. Prenat Diagn 1998; 18:808–815. 8. Tegnander E, Williams W, Johansen OJ, et al. Prenatal detection of heart defects in a nonselected population of 30,149 fetuses–detection rates and outcome. Ultrasound Obstet Gynecol 2006; 27:252–265. 9. Todros T, Faggiano F, Chiappa E, et al. Accuracy of routine ultrasonography in screening heart disease prenatally. Gruppo Piemontese for Prenatal Screening of Congenital Heart Disease. Prenat Diagn 1997; 17:901–906. 10. Wong SF, Chan FY, Cincotta RB, et al. Factors influencing the prenatal detection of structural congenital heart diseases. Ultrasound Obstet Gynecol 2003; 21:19–25. 11. Oster ME, Kim CH, Kusano AS, et al. A population-based study of the & association of prenatal diagnosis with survival rate for infants with congenital heart defects. Am J Cardiol 2014; 113:1036–1040. This study examines prenatal diagnosis rates in the metropolitan Atlanta area between 1994 and 2005. Infants with critical heart disease were more likely to be diagnosed prenatally; prenatal diagnosis of critical heart disease was associated with a lower 1-year survival. 12. SekarP,HeydarianHC,CnotaJF,etal.Diagnosisofcongenitalheartdiseaseinan & era of universal prenatal ultrasound screening in southwest Ohio. Cardiol Young 2013; 1–7; doi: 10.1017/S1047951113001467. [Epub ahead of print] This study examines prenatal diagnosis rates in the greater Cincinnati area between 2007 and 2009, as well as factors associated with the likelihood of prenatal diagnosis.

13. Trines J, Fruitman D, Zuo KJ, et al. Effectiveness of prenatal screening for congenital heart disease: assessment in a jurisdiction with universal access to healthcare. Can J Cardiol 2013; 29:879–885. This study examines prenatal diagnosis rates in Alberta, Canada, between 2007 and 2010, factors associated with prenatal diagnosis, and the impact of prenatal diagnosis on postnatal course during this time period. 14. Landis BJ, Levey A, Levasseur SM, et al. Prenatal diagnosis of congenital & heart disease and birth outcomes. Pediatr Cardiol 2013; 34:597– 605. This study examines prenatal diagnosis rates for infants admitted to a single New York intensive care nursery between 2004 and 2009, factors associated with prenatal diagnosis, and impact of diagnosis on decisions regarding pregnancy and on postnatal course. 15. Acherman RJ, Evans WN, Luna CF, et al. Prenatal detection of congenital heart disease in southern Nevada: the need for universal fetal cardiac evaluation. J Ultrasound Med 2007; 26:1715–1719; quiz 1720-1711. 16. Friedberg MK, Silverman NH, Moon-Grady AJ, et al. Prenatal detection of congenital heart disease. J Pediatr 2009; 155:26–31; 31 e21. 17. Galindo A, Herraiz I, Escribano D, et al. Prenatal detection of congenital heart defects: a survey on clinical practice in Spain. Fetal Diagn Ther 2011; 29:287–295. 18. Israel SW, Roofe LR, Saville BR, et al. Improvement in antenatal diagnosis of critical congenital heart disease implications for postnatal care and screening. Fetal Diagn Ther 2011; 30:180–183. 19. Khoo NS, Van Essen P, Richardson M, et al. Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: a population analysis 1999-2003. Aust N Z J Obstet Gynaecol 2008; 48:559–563. 20. Ogge G, Gaglioti P, Maccanti S, et al. Prenatal screening for congenital heart disease with four-chamber and outflow-tract views: a multicenter study. Ultrasound Obstet Gynecol 2006; 28:779–784. 21. Pinto NM, Keenan HT, Minich LL, et al. Barriers to prenatal detection of congenital heart disease: a population-based study. Ultrasound Obstet Gynecol 2012; 40:418–425. 22. Schwedler G, Lindinger A, Lange PE, et al. Frequency and spectrum of congenital heart defects among live births in Germany: a study of the Competence Network for Congenital Heart Defects. Clin Res Cardiol 2011; 100:1111–1117. 23. Marek J, Tomek V, Skovranek J, et al. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart 2011; 97:124–130. 24. Achiron R, Glaser J, Gelernter I, et al. Extended fetal echocardiographic examination for detecting cardiac malformations in low risk pregnancies. BMJ 1992; 304:671–674. 25. Carvalho JS, Mavrides E, Shinebourne EA, et al. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart 2002; 88:387–391. 26. Kirk JS, Riggs TW, Comstock CH, et al. Prenatal screening for cardiac anomalies: the value of routine addition of the aortic root to the four-chamber view. Obstet Gynecol 1994; 84:427–431. 27. Sklansky MS, Berman DP, Pruetz JD, et al. Prenatal screening for major congenital heart disease: superiority of outflow tracts over the 4-chamber view. J Ultrasound Med 2009; 28:889–899. 28. Stumpflen I, Stumpflen A, Wimmer M, et al. Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease. Lancet 1996; 348:854–857. 29. Tegnander E, Eik-Nes SH. The examiner’s ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination. Ultrasound Obstet Gynecol 2006; 28:8– 14. 30. Wu Q, Li M, Ju L, et al. Application of the 3-vessel view in routine prenatal sonographic screening for congenital heart disease. J Ultrasound Med 2009; 28:1319–1324. 31. American Institute of Ultrasound in Medicine. AIUM practice guideline for the & performance of obstetric ultrasound examinations. J Ultrasound Med 2013; 32:1083–1101. This AIUM practice guideline for imaging includes the recommendations for imaging of the fetal heart during fetal ultrasound studies and includes recommendations for outflow tract imaging. 32. International Society of Ultrasound in Obstetrics and Gynecology. Carvalho & JS, Allan LD, Chaoui R, et al. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013; 41:348–359. This ISUOG practice guideline includes recommendations for imaging of the fetal heart during screening evaluations and includes recommendations for outflow tract imaging. 33. Gardiner HM, Kovacevic A, van der Heijden LB, et al. Prenatal screening && for major congenital heart disease: assessing performance by combining national cardiac audit with maternity data. Heart 2014; 100:375– 382. This study examines hospital-specific and lesion-specific detection rates across institutions in the United Kingdom between 2004 and 2012. 34. Garne E, Stoll C, Clementi M. Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries. Ultrasound Obstet Gynecol 2001; 17:386–391. &

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Cardiovascular medicine 35. Hunter S, Heads A, Wyllie J, et al. Prenatal diagnosis of congenital heart disease in the northern region of England: benefits of a training programme for obstetric ultrasonographers. Heart 2000; 84:294–298. 36. Pezard P, Bonnemains L, Boussion F, et al. Influence of ultrasonographers training on prenatal diagnosis of congenital heart diseases: a 12-year population-based study. Prenat Diagn 2008; 28:1016–1022. 37. Asplin N, Dellgren A, Conner P. Education in obstetrical ultrasound–an & important factor for increasing the prenatal detection of congenital heart disease. Acta Obstet Gynecol Scand 2013; 92:804–808. This study examined the impact of education on the diagnosis of congenital heart disease in a midwifery practice over a 5-year period. 38. McBrien A, Sands A, Craig B, et al. Impact of a regional training program in fetal echocardiography for sonographers on the antenatal detection of major congenital heart disease. Ultrasound Obstet Gynecol 2010; 36:279– 284. 39. Allan LD, Huggon IC. Counselling following a diagnosis of congenital heart disease. Prenat Diagn 2004; 24:1136–1142. 40. Arya B, Glickstein JS, Levasseur SM, et al. Parents of children with congenital & heart disease prefer more information than cardiologists provide. Congenit Heart Dis 2013; 8:78–85. This study examines the difference in perception of parents of children with congenital heart disease and physicians regarding topics of importance in counseling during the prenatal and postnatal period. 41. Rosenberg KB, Monk C, Glickstein JS, et al. Referral for fetal echocardiography is associated with increased maternal anxiety. J Psychosomat Obstet Gynaecol 2010; 31:60–69. 42. Rychik J, Donaghue DD, Levy S, et al. Maternal psychological stress after && prenatal diagnosis of congenital heart disease. J Pediatr 2013; 162:302– 307; e301. This study examines the incidence of stress, anxiety, and depression during pregnancy in the setting of a prenatal diagnosis of congenital heart disease. 43. Hilton-Kamm D, Sklansky M, Chang RK. How not to tell parents about their & child’s new diagnosis of congenital heart disease: an Internet survey of 841 parents. Pediatr Cardiol 2014; 35:239–252. This study examines the experiences of parents when receiving initial information regarding their child’s diagnosis through an online survey. The study is not limited to families receiving information in the prenatal period. 44. Larmay HJ, Strasburger JF. Differential diagnosis and management of the fetus and newborn with an irregular or abnormal heart rate. Pediatr Clin North Am 2004; 51:1033–1050; x. 45. Kahler C, Schleussner E, Grimm B, et al. Fetal magnetocardiography: development of the fetal cardiac time intervals. Prenat Diagn 2002; 22:408– 414. 46. Srinivasan S, Strasburger J. Overview of fetal arrhythmias. Curr Opin Pediatr 2008; 20:522–531. 47. Strasburger JF. Fetal electrophysiology. PACE 2008; 31:1087–1088. 48. van Leeuwen P, Hailer B, Bader W, et al. Magnetocardiography in the diagnosis of fetal arrhythmia. Brit J Obstet Gynaecol 1999; 106:1200–1208. 49. Van Hare GF. Magnetocardiography in the diagnosis of fetal arrhythmias. & Heart Rhythm 2013; 10:1199–1200. This editorial comments on the superior ability of magnetocardiography to diagnose fetal arrhythmias and conduction system abnormalities compared with fetal electrocardiography or fetal echocardiography. 50. Strasburger JF, Cheulkar B, Wakai RT. Magnetocardiography for fetal arrhythmias. Heart Rhythm 2008; 5:1073–1076. 51. Crotti L, Tester DJ, White WM, et al. Long QT syndrome-associated mutations & in intrauterine fetal death. JAMA 2013; 309:1473–1482. This study evaluates the spectrum and prevalence of long QT syndrome-associated mutations in a cohort of intrauterine fetal deaths and identifies long QT syndrome as a cause of fetal demise. 52. Ishikawa S, Yamada T, Kuwata T, et al. Fetal presentation of long QT & syndrome–evaluation of prenatal risk factors: a systematic review. Fetal Diagn Ther 2013; 33:1–7. This review article identifies fetal echocardiographic features of long QT syndrome, including bradycardia, atrioventricular block, tachyarrhythmias, reduced FHR variability, and clinical signs of heart failure. 53. Chabaneix J, Andelfinger G, Fournier A, et al. Prenatal diagnosis of long QT syndrome with the superior vena cava-aorta Doppler approach. Am J Obstet Gynecol 2012; 207:e3–e7. 54. Cuneo BF, Strasburger JF, Yu S, et al. In utero diagnosis of long QT syndrome && by magnetocardiography. Circulation 2013; 128:2183–2191. This study elegantly demonstrates how magnetocardiography can diagnose long QT syndrome in utero and identify conduction system characteristics associated with more severe phenotypes. 55. Buyon JP, Hiebert R, Copel J, et al. Autoimmune-associated congenital heart block: demographics, mortality, morbidity and recurrence rates obtained from a national neonatal lupus registry. J Am Coll Cardiol 1998; 31:1658– 1666. 56. Buyon JP, Clancy RM, Friedman DM. Cardiac manifestations of neonatal lupus erythematosus: guidelines to management, integrating clues from the bench and bedside. Nat Clin Pract Rheumatol 2009; 5:139–148. 57. Buyon JP, Clancy RM, Friedman DM. Autoimmune associated congenital heart block: integration of clinical and research clues in the management of the maternal /foetal dyad at risk. J Intern Med 2009; 265:653–662.

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58. Friedman DM, Kim MY, Copel JA, et al. Utility of cardiac monitoring in fetuses at risk for congenital heart block: the PR Interval and Dexamethasone Evaluation (PRIDE) prospective study. Circulation 2008; 117:485–493. 59. Jaeggi ET, Fouron JC, Silverman ED, et al. Transplacental fetal treatment improves the outcome of prenatally diagnosed complete atrioventricular block without structural heart disease. Circulation 2004; 110:1542–1548. 60. Jaeggi ET, Hamilton RM, Silverman ED, et al. Outcome of children with fetal, neonatal or childhood diagnosis of isolated congenital atrioventricular block. A single institution’s experience of 30 years. J Am Coll Cardiol 2002; 39:130–137. 61. Phoon CK, Kim MY, Buyon JP, et al. Finding the ‘PR-fect’ solution: what is the & best tool to measure fetal cardiac PR intervals for the detection and possible treatment of early conduction disease? Congenit Heart Dis 2012; 7:349– 360. This study demonstrates that there is no conclusive proof that PR interval prolongation predicts the development of complete heart block and calls for a better way to identify which fetuses exposed to maternal SSA and SSB antibodies will develop complete heart block. 62. Bonnet D, Coltri A, Butera G, et al. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Circulation 1999; 99:916–918. 63. Copel JA, Tan AS, Kleinman CS. Does a prenatal diagnosis of congenital heart disease alter short-term outcome? Ultrasound Obstet Gynecol 1997; 10:237–241. 64. Franklin O, Burch M, Manning N, et al. Prenatal diagnosis of coarctation of the aorta improves survival and reduces morbidity. Heart 2002; 87:67– 69. 65. Fuchs IB, Muller H, Abdul-Khaliq H, et al. Immediate and long-term outcomes in children with prenatal diagnosis of selected isolated congenital heart defects. Ultrasound Obstet Gynecol 2007; 29:38–43. 66. Tworetzky W, McElhinney DB, Reddy VM, et al. Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Circulation 2001; 103:1269–1273. 67. Khoshnood B, De Vigan C, Vodovar V, et al. Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart disease in France 1983–2000 a population-based evaluation. Pediatrics 2005; 115:95–101. 68. Fountain-Dommer RR, Bradley SM, Atz AM, et al. Outcome following, and impact of, prenatal identification of the candidates for the Norwood procedure. Cardiol Young 2004; 14:32–38. 69. Kipps AK, Feuille C, Azakie A, et al. Prenatal diagnosis of hypoplastic left heart syndrome in current era. Am J Cardiol 2011; 108:421–427. 70. Kumar RK, Newburger JW, Gauvreau K, et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol 1999; 83:1649–1653. 71. Levey A, Glickstein JS, Kleinman CS, et al. The impact of prenatal diagnosis of complex congenital heart disease on neonatal outcomes. Pediatr Cardiol 2010; 31:587–597. 72. McCandless RT, Puchalski MD, Minich LL, et al. Prenatally diagnosed coarctation: a more sinister disease? Pediatr Cardiol 2012; 33:1160–1164. 73. Tzifa A, Barker C, Tibby SM, et al. Prenatal diagnosis of pulmonary atresia: impact on clinical presentation and early outcome. Arch Dis Child Fetal Neonatal Ed 2007; 92:F199–F203. 74. Atz AM, Travison TG, Williams IA, et al. Prenatal diagnosis and risk factors for preoperative death in neonates with single right ventricle and systemic outflow obstruction: screening data from the Pediatric Heart Network Single Ventricle Reconstruction Trial(). J Thorac Cardiovasc Surg 2010; 140:1245–1250. 75. Daubeney PE, Sharland GK, Cook AC, et al. Pulmonary atresia with intact ventricular septum: impact of fetal echocardiography on incidence at birth and postnatal outcome. UK and Eire Collaborative Study of Pulmonary Atresia with Intact Ventricular Septum. Circulation 1998; 98:562–566. 76. Eapen RS, Rowland DG, Franklin WH. Effect of prenatal diagnosis of critical left heart obstruction on perinatal morbidity and mortality. Am J Perinatol 1998; 15:237–242. 77. Kern JH, Hayes CJ, Michler RE, et al. Survival and risk factor analysis for the Norwood procedure for hypoplastic left heart syndrome. Am J Cardiol 1997; 80:170–174. 78. Mahle WT, Clancy RR, McGaurn SP, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics 2001; 107:1277–1282. 79. Raboisson MJ, Samson C, Ducreux C, et al. Impact of prenatal diagnosis of transposition of the great arteries on obstetric and early postnatal management. Eur J Obstet Gynecol Reprod Biol 2009; 142:18–22. 80. Sivarajan V, Penny DJ, Filan P, et al. Impact of antenatal diagnosis of hypoplastic left heart syndrome on the clinical presentation and surgical outcomes: the Australian experience. J Paediatr Child Health 2009; 45:112–117. 81. Swanson TM, Selamet Tierney ES, Tworetzky W, et al. Truncus arteriosus: diagnostic accuracy, outcomes, and impact of prenatal diagnosis. Pediatr Cardiol 2009; 30:256–261. 82. Verheijen PM, Lisowski LA, Stoutenbeek P, et al. Prenatal diagnosis of congenital heart disease affects preoperative acidosis in the newborn patient. J Thorac Cardiovasc Surg 2001; 121:798–803.

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Pediatric prenatal diagnosis of congenital heart disease Killen et al. 83. Lim JS, McCrindle BW, Smallhorn JF, et al. Clinical features, management, and outcome of children with fetal and postnatal diagnoses of isomerism syndromes. Circulation 2005; 112:2454–2461. 84. Tham EB, Wald R, McElhinney DB, et al. Outcome of fetuses and infants with double inlet single left ventricle. Am J Cardiol 2008; 101:1652– 1656. 85. Brown KL, Ridout DA, Hoskote A, et al. Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates. Heart 2006; 92:1298–1302. 86. Tuo G, Volpe P, Bondanza S, et al. Impact of prenatal diagnosis on outcome of pulmonary atresia and intact ventricular septum. J Matern Fetal Neonatal Med 2012; 25:669–674. 87. Wright LK, Ehrlich A, Stauffer N, et al. Relation of prenatal diagnosis with oneyear survival rate for infants with congenital heart disease. Am J Cardiol 2014; 113:1041–1044. 88. Mazwi ML, Brown DW, Marshall AC, et al. Unplanned reinterventions are & associated with postoperative mortality in neonates with critical congenital heart disease. J Thorac Cardiovasc Surg 2013; 145:671–677. This study examines factors associated with unplanned surgical or catheter-based reinterventions in neonates with critical heart disease at a single center. Prenatal diagnosis was identified as one of these factors, associated with increased hospital mortality. 89. Bartlett JM, Wypij D, Bellinger DC, et al. Effect of prenatal diagnosis on outcomes in D-transposition of the great arteries. Pediatrics 2004; 113:e335–e340. 90. Markkanen HK, Pihkala JI, Salminen JT, et al. Prenatal diagnosis improves the & postnatal cardiac function in a population-based cohort of infants with hypoplastic left heart syndrome. J Am Soc Echocardiogr 2013; 26:1073– 1079. This study uses echocardiographic modalities to examine right ventricular function in neonates diagnosed with hypoplastic left heart syndrome and shows better function in prenatally diagnosed infants; a decreased incidence of acidosis and multiorgan failure is also seen in this group.

91. Satomi G, Yasukochi S, Shimizu T, et al. Has fetal echocardiography improved the prognosis of congenital heart disease? Comparison of patients with hypoplastic left heart syndrome with and without prenatal diagnosis. Pediatr Int 1999; 41:728–732. 92. Calderon J, Angeard N, Moutier S, et al. Impact of prenatal diagnosis on neurocognitive outcomes in children with transposition of the great arteries. J Pediatr 2012; 161:94–98; e91. 93. Mehta A, Ibsen LM. Neurologic complications and neurodevelopmental out& come with extracorporeal life support. World J Crit Care Med 2013; 2:40–47. This article reviews the incidence of and risk factors for neurologic complications in patients after support with extracorporeal life support. 94. Szwast A, Rychik J. Prenatal diagnosis of hypoplastic left heart syndrome: can && we optimize outcomes? J Am Soc Echocardiogr 2013; 26:1080–1083. This article, commenting on the study by Markkanen et al. reviews the many opportunities to impact outcome in prenatally diagnosed infants with hypoplastic left heart syndrome including prenatal and postnatal interventions, and decisions regarding delivery site; the impact of the preservation of right ventricular performance is discussed. 95. Morris SA, Ethen MK, Penny DJ, et al. Prenatal diagnosis, birth location, && surgical center, and neonatal mortality in infants with hypoplastic left heart syndrome. Circulation 2014; 129:285–292. This study examines the association between neonatal mortality for infants with hypoplastic left heart syndrome and birth location. Presurgical and pretransport mortality is explored. 96. Cnota JF, Gupta R, Michelfelder EC, et al. Congenital heart disease infant death rates decrease as gestational age advances from 34 to 40 weeks. J Pediatr 2011; 159:761–765. 97. Costello JM, Polito A, Brown DW, et al. Birth before 39 weeks’ gestation is associated with worse outcomes in neonates with heart disease. Pediatrics 2010; 126:277–284. 98. Goff DA, Luan X, Gerdes M, et al. Younger gestational age is associated with worse neurodevelopmental outcomes after cardiac surgery in infancy. J Thorac Cardiovasc Surg 2012; 143:535–542.

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Pediatric prenatal diagnosis of congenital heart disease.

Fetal cardiology is a rapidly evolving field. Imaging technology continues to advance as do approaches to in-utero interventions and care of the criti...
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