Congenital Heart Defects

Front matter

Congenital Heart Defects Recent Advances Edited by P. Syamasundar Rao Edited by P. Syamasundar Rao Over the last 50 years, there have been remarkable developments in the diagnosis and treatment of congenital heart defects. This book addresses some of these developments, including the role of echocardiography in improving the prognosis of fetal heart defects, benefits of new echo techniques, cardiac screening of participants in sports, management of premature babies with patent ductus arteriosus, and advantages of stenting the right ventricular outflow tract. It also discusses several types of heart defects, including ventricular septal defect, atrioventricular septal defect, hypoplastic left heart syndrome, and Ebstein’s anomaly of the tricuspid valve. Finally, the book discusses the treatment of congenital aortic valve disease and issues related to managing congenital heart disease in developing countries. Published in London, UK © 2022 IntechOpen © Sinhyu / iStock ISBN 978-1-80356-080-9

Congenital Heart Defects - Recent Advances Edited by P . Syamasundar Rao Published in London, United Kingdom http:/ /dx.doi.org/10.5772/intechopen.98012 Edited by P. Syamasundar Rao Contributors Jiuann-Huey Lin, Jose Da Silva, Luciana Da Fonseca Da Silva, William Devine, Justin Yeh, Tarek Alsaied, Maria Giovanna Russo, Fiorella Fratta, Antonia Giudicepietro, Marina De Marco, Fortuna Del Gaizo, Carmela Morelli, Laura di Pietto, Ludovica Spinelli Barrile, Federica De Fazio, Rakesh Donthula, P. Syamasundar Rao, Animisha Rudra, Shaad Abqari, Arpit Agarwal, Harinder Singh, Daniel Nento, Si Hui Wong, Osama Elshazali, Abdelmoniem Elseed, Murtada Ibrahim, Aimann Surak, Teja Senekovič Kojc, Nataša Marčun Varda, Unnati Doshi, Elizabeth Wang-Giuffre, Ikechukwu Andrew Nwafor, Josephat Maduabuchi Chinawa, John Chukwuemeka Eze, Fidelis Anayo Onyekwulu, Yolandee Bell-Chedder, Mario Castro-Medina, Raymond Morales, XinXiu Xu, Cecilia W. Lo © The Editor(s) and the Author(s) 2022 The rights of the editor(s) and the author(s) have been asserted in accordance with the Copyright, Designs and Patents Act 1988. All rights to the book as a whole are reserved by INTECHOPEN LIMITED. The book as a whole (compilation) cannot be reproduced, distributed or used for commercial or non-commercial purposes without INTECHOPEN LIMITED’s written permission. Enquiries concerning the use of the book should be directed to INTECHOPEN LIMITED rights and permissions department (permissions@intechopen.com).

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Section 1 Introduction

Chapter 1 Introductory Chapter: Introduction to Recent Advances in the Diagnosis and Management of Congenital Heart Defects P . Syamasundar Rao 1. Introduction Congenital heart defects (CHDs) are defined as anatomic malformations of either the heart or great vessels, which occur while intrauterine development of the heart is taking place [1]. This is regardless of the age at which the CHD manifests. Typical examples of CHDs are ventricular septal defect and coarctation of the aorta. Many studies were performed to determine the incidence of CHDs; these investigations indicate an incidence of 0.8% of live births [2]. This would result in the birth of approximately 40,000 babies in the United States alone, and over 1,000,000 babies are born with a heart defect worldwide. There is no evidence for any differences in the prevalence of CHD among continents or between racial groups [3]. Recent description of pulse oximetry screening of newborn babies prior to discharge from the hospital has resulted in early identification of critical CHDs [4–6]. This adds to the early detection strategies offered by fetal echocardiography [7]. Approximately half of the patients with CHDs may be addressed by providing ordinary medications and clinical follow-up without major therapeutic interventions. Nevertheless, the outstanding half formerly needed surgery, and some requiring open-heart procedures through cardiopulmonary bypass. Subsequently, following the development of percutaneous methods [8–12], half of these children (i.e., 25% of the total) are being addressed by percutaneous, transcatheter techniques that are less invasive than surgery. Availability of highly sensitive noninvasive diagnostic tools such as echo-Doppler studies [13–16], magnetic resonance imaging (MRI) [17 , 18], computed tomography (CT) [19, 20]; identification of CHD in the fetus by echo [7]; early detection of neonates with serious heart disease [21, 22], including pulse oximetry screening of the neonates prior to discharge from the hospital [4–6] and their rapid transport to tertiary care centers [21, 22]; advances in transcatheter interventional procedures [8–12]; improvements in pediatric cardiac anesthesia [23, 24]; and extension of complicated surgical procedures to treat children with complex CHDs [25] have resulted in the successful management of all children with heart disease. Consequently, almost all CHDs are diagnosed and “corrected. ” Defects that cannot be completely corrected can be effectively palliated [26] or cardiac transplantation performed [27–29]. The last five decades have seen a great many advances and as mentioned above, these resulted in the increased survival of children with CHD. The purpose of this book on

Author details P . Syamasundar Rao Children’ s Heart Institute, University of Texas McGovern Medical School and Children’ s Memorial Herman Hospital, Houston, Texas, USA * Address all correspondence to: p.syamasundar.rao@uth.tmc.edu “Congenital Heart Defects: Recent Advances” is to present some of these advances in an easily readable format for the physicians and other health-care personnel interested in the care of infants, children, and adults with congenital heart disease. While a number of chapters were contributed to this book, not all the advances that occurred during the last 50 years could be included; this is largely related to the method by which the authors were recruited and chapter titles were selected and limitations of the space. Y et, the authors of the book chapters and I hope that the discussed matter is helpful to the reader and help him/her in the care of the patients that they are involved in. © 2022 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Introductory Chapter: Introduction to Recent Advances in the Diagnosis and Management… DOI: http://dx.doi.org/10.5772/intechopen.106456 References [1] Rao PS. Congenital heart defects – A review . In: Rao PS, editor. Congenital Heart Disease - Selected Aspects. Rijeka, Croatia: InTech; 2012. pp. 3-44 [2] Hoffman JI, Kaplan S. The incidence of congenital heart disease. Journal of the American College of Cardiology. 2002;39:1890-1900 [3] Rao PS. Demographic features of tricuspid atresia. In: Rao PS, editor.

Tricuspid Atresia. 2nd ed. NY , Mt. Kisco: Futura Publishing Co.; 1992. pp. 23-37 [4] Hoke TR, Donohue PK, Bawa PK, et al. Oxygen saturation as a screening test for critical congenital heart disease: A preliminary study. Pediatric Cardiology. 2002;23:403-409 [5] Diller CL, Kelleman MS, Kupke KG, et al. A modified algorithm for critical congenital heart disease screening using pulse oximetry. Pediatrics. 2018;141(5):e20174065. DOI: 10.1542/ peds.2017-4065 [6] Vidyasagar D, Beligere N. Pulse oximetry screening for detecting congenital heart defects in the newborn.

In: Rao PS, Vidyasagar D, editors.

A Multidisciplinary Approach to Perinatal Cardiology. V ol. 1. New Castle upon Tyne, UK: Cambridge Scholars Publishing; 2021. pp. 268-291 [7] Randall P , Brealey S, Hahn S, et al.

Accuracy of fetal echocardiography in the routine detection of congenital heart disease among unselected and low risk population, a systemic review . BJOG: An International Journal of Obstetrics & Gynaecology. 2005;112:24-30 [8] Rao PS. Balloon Angioplasty and Valvuloplasty in Infants, Children and Adolescents. Current Problems in Cardiology. Chicago: Y earBook Medical Publishers, Inc.; 1989;14(8):417-500 [9] Rao PS. Transcatheter Therapy in Pediatric Cardiology. New Y ork: Wiley-Liss, Inc.; 1993 [10] Rao PS. Interventional pediatric cardiology: State of the art and future directions. Pediatric Cardiology. 1998;19:107-124 [11] Rao PS, Kern MJ, editors. Catheter Based Devices for Treatment of Noncoronary Cardiovascular Disease in Adults and Children. Philadelphia, PA: Lippincott Williams & Wilkins; 2003 [12] Rao PS. Stents in the management of vascular obstructive lesions associated with congenital heart disease. In: Vijayalakshmi IB, editor. Cardiac Catheterization and Imaging (from Pediatrics to Geriatrics). New Delhi, India: Jaypee Publications; 2015. pp. 573-598 [13] Tworetzky W , McElhinney DB, Brook MM, et al. Echocardiographic diagnosis alone for the complete repair of major congenital heart defects. Journal of the American College of Cardiology. 1999;33:228-233 [14] Rao PS. Echocardiography: An overview - part I. V essel Plus. 2021;11:2.

DOI: 10.20517/2574-1209.2021.91 [15] Rao PS. Echocardiography: An overview - part II. V essel Plus. 2022;6:25.

DOI: 10.20517/2574-1209.2021.92 [16] Rao PS. Echocardiography: An overview - part III. V essel Plus. 2022;6:26.

[17] Kellenberger CJ, Y oo SJ, Buchel ER.

Cardiovascular MR imaging in neonates and infants with congenital heart disease. Radiographics. 2007;27:5-18.

DOI: 10.1148/rg.271065027 [18] Occleshaw C. Technical aspects of pediatric cardiac MR. In: Fogel MA, editor. Principles and Practice of Cardiac Magnetic Resonance in Congenital Heart Disease: Form, Function and Flow . 1st ed. UK: John Wiley & Sons Ltd; 2010. pp. 20-21 [19] Kawano T , Ishii M, Takagi J, et al.

Three-dimensional helical computed tomographic angiography in neonates and infants with complex congenital heart disease. American Heart Journal. 2000;139:654-660 [20] Long YG, Yang YY , Huang IL, et al. Role of multi-slice and three-dimensional computed tomography in delineating extracardiac vascular abnormalities in neonates. Pediatrics and Neonatology. 2010;51:227-234.

DOI: 10.1016/S1875-9572(10)60043-5; 10.1016/S1875-9572(10)60043-5 [21] Vincent WR, Rao PS. Early identification of the neonate with suspected serious heart disease.

Paediatrician. 1973;2:239-250 [22] Rao PS, Strong WB. Early identification of the neonate with heart disease. Journal of the Medical Association of Georgia. 1974;63: 430-433 [23] Kambam J, editor. In: Cardiac Anesthesia for Infants and Children.

St. Louis, MO: Mosby- Y ear Book; 1994 [24] Gautam NK, Hubbard R. Anesthesia for the neonate with congenital heart disease. In: Rao PS, Vidyasagar D, editors. A Multidisciplinary Approach to Perinatal Cardiology. V ol. 2. New Castle upon Tyne, UK: Cambridge Scholars Publishing; 2021. pp. 1-20 [25] Greenleaf CE, Salazar JE, Douglas WI. Cardiac surgery in the neonate. In: Rao PS, Vidyasagar D, editors. A Multidisciplinary Approach to Perinatal Cardiology. V ol. 2. New Castle upon Tyne, UK: Cambridge Scholars Publishing; 2021. pp. 21-50 [26] Rao PS. Single ventricle—A comprehensive review . Children. 2021;8:441. DOI: 10.3390/ children8060441 [27] Bailey LL, Concepcion W , Shattuck H, et al. Method of heart transplantation for treatment of hypoplastic left heart syndrome. The Journal of Thoracic and Cardiovascular Surgery. 1986;92:1-5 [28] Dipchand AI. Current state of pediatric cardiac transplantation.

Annals of Cardiothoracic Surgery. 2018;7(1):31-55 [29] Aggarwal A. Cardiac transplantation infants and children.

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Section 2 Fetal Ultrasound

Chapter 2 The Impact of Fetal Echocardiography on the Prognosis of Congenital Heart Disease Maria Giovanna Russo, Fiorella Fratta, Antonia Giudicepietro, Carmela Morelli, Fortuna Del Gaizo, Laura di Pietto, Marina De Marco, Ludovica Spinelli Barrile and Federica De Fazio Abstract Congenital heart disease (CHD) represents the group of the most common malformations detected both prenatally and after birth. Although progress in the management and treatments of CHD, it still remains a significant cause of neonatal morbidity and mortality. However, the recent improvement in the diagnosis and therapy of CHD represents one of the most important successes of cardiac surgery and medical treatment. Accordingly, in the last twenty years, the number of patients with CHD who have reached adulthood has increased significantly and even surpass the number of affected pediatric patients, due to the extraordinary progress in the diagnostic, clinical, and surgical technologies. In particular, the ultrasound study of the fetal heart allows a diagnosis of CHD in the prenatal period, significantly improves perinatal outcomes in infants with critical CHD, and enables a reduction in stillbirth. Keywords: Congenital heart disease, fetal echocardiography, invasive fetal cardiac intervention, counseling 1. Introduction Congenital heart disease (CHD) is the most common malformation detected prenatally and at birth. Generally, estimated incidence is approximately 10/1000 of live births and is significantly higher in premature infants and in stillborn [1].

Although remarkable progress has been made in the diagnosis and treatment of this condition, it still remains a significant cause of neonatal morbidity and mortality. Congenital malformations of the heart are a broad spectrum of defects varying from mild lesions that produce only minimal or no symptoms and might be incidentally detected in adult life to severe anomalies that cause premature death. There are many factors that increase the risk of having a child with CHD. The etiology of CHD can be separated into genetic and non-genetic forms. Epidemiological studies have suggested that a genetic or environmental cause can be identified in approximately 30% of CHD cases [2]. Approximately 17% of CHD occurs in association with a well-defined syndrome such as trisomies 13, 15, 18, 21 and Turner syndrome [3]. Some environmental factors have been identified as responsible for CHD such as congenital rubella infection or teratogenic drugs [2]. However, the majority of cases remain unexplained, probably due to some combination of genetic and environmental factors [4]. The main classification of CHD includes: • Left-to-right shunt leading to an increased pulmonary flow • Reduced pulmonary blood flow • Transposition of the great arteries • Left and right heart obstruction • Duct dependent pulmonary or systemic circulation In this chapter, we will discuss in detail the importance of fetal echocardiog - raphy and the fundamental impact of early detection and interventions during fetal life on postnatal outcomes.

We will also discuss the importance of adequate counseling in order to allow parents to understand the condition, to support them in the most difficult decision to interrupt or keep pregnancy, to offer extensive information on available therapeutic options, and prevision of data on outcome and quality of life. 2. Fetal echocardiography , impact on the prognosis Fetal echocardiography is born in the late 80s, when the improvement of ultrasound technology has made possible to focus attention on the characteristics of the fetal heart. Huhta JC, one of the pioneers of this method, raised the question if, without the possibility of treating in utero CHD, is it useful or advisable to make the diagnosis in advance, before birth [5]. It is clearly demonstrated that a team consisting of an expert gynecologist and a pediatric cardiologist can make diagnosis of a number of congenital heart defects in the fetal stage with very high degree of accuracy [6]. The prenatal diagnosis of CHD in the last 30 years has reached a high degree of diagnostic accuracy allowing to identify of almost all forms of CHD during fetal life; this is true in most expert centers since the interpretation of fetal echocardiography requires advanced skills. Accordingly, a suspected cardiac abnormality should then always be referred to a fetal cardiology specialist in a tertiary level center for further evaluation. Prenatal diagnosis rates for CHD increased from 23.0% in 1983–1988 to 47 .3% in 1995–2000 [6]. Similarly, termination rates increased from 9.9% (between 1983 and 1989) to 14.7% (between 1989 and 2000) [6]. The spectrum of CHD observed before birth appears similar to the spectrum of CHD postnatally detected [6]. Early diagnosis of CHD during fetal echocardiography can influence the prognosis because it can permit the parents and clinicians to treat the defect. In this chapter, we will address pregnancy and delivery management, issues related to voluntary interruption of pregnancy, and fetal interventions.

The Impact of Fetal Echocardiography on the Prognosis of Congenital Heart Disease DOI: http://dx.doi.org/10.5772/intechopen.104828 3. Pregnancy and delivery management Prenatal diagnosis has an impact on morbidity and mortality for most severe conditions because it allows an appropriate referral and planning of delivery and immediate assistance in expert centers resulting in improving short-term outcomes. However, its influence on long-term outcomes are still not clarified. In particular, prenatal diagnosis of conditions that constitute a neonatal emergency, such as duct dependent lesions, allows for manage the delivery in a tertiary care center. This strategy improves survival significantly and reduces preoperative morbidity and risk of neurological compromission [7]. CHD patients diagnosed postnatally that were born at non-tertiary centers, without specialist neonatal or cardiac services, presented later and required much higher levels of cardio-respiratory support during transfer from geographically distant locations [8]. Of note, clinical instability in postnatally diagnosed infants with CHD is an established risk factor for morbidity and mortality [8]. Moreover, it has also been proven that prenatally diagnosed infants undergo significantly earlier surgery [8]. 4. V oluntary interruption of pregnancy It has been documented that a parallel increase in pregnancy interruption occurred with fetal CHD diagnosis [9]. Thus, early diagnosis of CHD permits parents to make the difficult choice of eventual interruption of pregnancy.

The rates of prenatal diagnosis of CHD were 47 ,3% in France, 49% in USA, and 52,8% in Australia [10]. In our center, our 21 years’ experience is in accord with the one of Khoshnood [6]: the spectrum of prenatally diagnosis CHD is getting similar to the one observed after birth. This is due to the great number of detected cases. Other than hypoplastic left heart syndrome (HLHS), pregnancy termination was exceptional. Early neonatal mortality in patients with severe CHD decreased to less than 1/3 in the period 1995– 2000 [6]. The curve of survival shows a slightly worse survival for neonates with the prenatal diagnosis but this is likely to be related to the composition of the population and selection bias since fetal echocardiography is performed only when there is a high index of suspicion for more severe CHD [11]. 4.1 Fetal cardiac intervention Several fetal studies reported that structural heart disease, in particular aortic stenosis, evolves in utero, hindering the growth of the left ventricle [12]. Fetal cardiac intervention (FCI) is a novel and advanced technique that allows in utero treatment of a subset of congenital heart disease. Fetal cardiac intervention with valvuloplasty, is based on the principle that intervention will modify the natural history of the disease process [13]. To prove an eventual favorable impact of FCI, we must first gain a full understanding of the unaltered progression of heart disease in utero. Referral centers that have performed the most procedures have shown that in utero valvuloplasty can be performed successfully, with limited risk to the mother and encouraging outcomes for fetuses, especially in those with aortic stenosis at risk of evolving to HLHS [14].

Fetal intervention is technically feasible only in a small specific subset of congenital heart defects.

The three most commonly performed FCI are [15]: 1. Fetal aortic stenosis with risk factors for evolving into hypoplastic left heart syndrome (HLHS). 2. HLHS with intact or restrictive atrial septum. 3. Pulmonary atresia/stenosis with intact ventricular septum, with concern for worsening right ventricular (RV) hypoplasia. • Fetal aortic stenosis. In Linz center between October 2000 and February 2020, 115 fetal aortic valvuloplasties (FA V) were undertaken in 95 fetuses. All patients but one had at least one technically successful procedure. An overall success rate of 82.4% (14/17 procedures) was reported by Tulzer et al. [16]. Similarly, Pickard et al. reported in a period from 2000 to 2017 that fetal aortic valvuloplasty was technically successful in 84% of 143 fetuses, while fetal demise was observed in 8%. Biventricular circulation was achieved in 50% of the remaining 111 liveborn infants with successful fetal aortic valvuloplasty, while only 16% of the 19 patients with unsuccessful valvuloplasty achieved biventricular circulation [17]. • HLHS with intact or restrictive atrial septum. The incidence of intact atrial septum in HLHS is approximately 6%, with restrictive atrial septum occurring in up to 22% [18]. Survival for patients with HLHS and intact atrial septum remains poor, with a 1-year survival rate of ∼ 30% [19]. The rationale for FCI in HLHS with intact or restrictive atrial septum is to avoid severe neonatal hypoxia and death and to prevent worsening of the lung disease that frequently occurs as a result of chronic in utero pulmonary venous hypertension. Postnatal management involves atrial septostomy, the Rashkind procedure, to open the atrial septum and enhance atrial mixing. Some selected centers performing this type of FCI, have attempted to maintain patency of the atrial septal defect until the time of delivery, with an atrial septal stent. In the largest cohort of patients undergoing FCI on the atrial septum (n = 47) from the International Fetal Cardiac Intervention Registry, technical success was reported in 77% of cases, with 65% success in atrial stent placement [20]. • Pulmonary atresia/stenosis with an intact ventricular septum. Even lesions like pulmonary atresia with intact ventricular septum and severe pulmonary stenosis can progress to significant right ventricular dysplasia and evolve to unfavorable univentricular circulation at birth which will require complex and multiple interventions in the follow-up. These fetuses are potential candidates for pulmonary balloon valvuloplasty in utero. Fetal cardiac intervention offers the potential for improved right ventricle and tricuspid valve growth, less damage to the myocardium, potential for biventricular circulation, and improved morbidity and mortality [21].

The International Fetal Cardiac Intervention Registry (IFCIR) has published data from multiple institutions that provide FCI for PA/IVS [22]. In this study, 16 patients enrolled underwent FCI with 11 successful procedures. The procedure success rate was 11/16 (69%). Of the 11 technically successful cases, five (45%) had postnatal biventricular repair [22]. The group at the Children’ s Hospital Heart Center in Linz has

The Impact of Fetal Echocardiography on the Prognosis of Congenital Heart Disease DOI: http://dx.doi.org/10.5772/intechopen.104828 published a large cohort of patients at a single center [23]. They performed 35 FCI on 25 maternal-fetal pairs for either PA/IVS (n = 15) or critical pulmonary valve stenosis (n = 8). They report either partial or successful FCI in 21/23 maternal-fetal pairs. In the successful intervention group, 15 had a predicted biventricular surgery (70%), three a one and a half ventricle surgery and three an indeterminate outcome. No patients that had a successful FCI were predicted to have a single ventricle outcome [23]. A study performed at Boston Children’ s Hospital describes their experience [24]. FCI was performed in ten fetuses with PA/IVS. The first four procedures were technically unsuccessful and the following six procedures were successful. Compared with control fetuses (n = 15) with PA/IVS who did not undergo prenatal intervention and had univentricular outcomes after birth, the tricuspid valve annulus, right ventricle length, and PV annulus grew significantly more from midgestation to late gestation in the six fetuses who underwent successful interventions. Nine fetuses were liveborn; one fetus was terminated after an unsuccessful attempt at FCI. All nine patients required postnatal interventions. Of the six successful FCIs, five had a predicted biventricular outcome (83%) and one had a predicted single-ventricle outcome [24]. FCI also includes transplacental drug therapy, such as maternal antiarrhythmic drugs in case of fetal arrhythmias and steroids [25]. 4.2 T ermination of pregnancy FCI techniques have made possible to improve the success rates of cardiac interventions in utero, obtaining better postnatal outcomes. However, it is inevitable to consider the consequences of a diagnosis of CHD in the prenatal period, leading to a set of complex emotional states in parents who move away from the concept of “healthy condition” of their future child. Discussion with parents on the long-term prognosis constitutes a fundamental element of adequate counseling. Appropriate counseling is ideally composed of an interdisciplinary team: obstetrician, pediatrician, pediatric cardiologist, and heart surgeon [26]. Counseling to parents following the diagnosis of congenital heart disease should take into account: the severity of CHD, the association with extracardiac malformations, and the presence of an associated genetic syndrome. All of these factors influence the parents’ decision regarding pregnancy continuation or interruption.

In recent decades, the study of the heart in the prenatal period through fetal echocardiography, associated with a marked improvement in ultrasound technologies, and a greater competence of the operators, has significantly increased detection of the prenatal CHD. The incidence cardiac anomalies diagnosed at prenatal ultrasound screening differs from that observed at birth, due to intrauterine fetal demise and the recourse to termination of pregnancy (TOP). Indeed, in countries where prenatal evaluation is considered as standard of care, the incidence of CHD births is even lower [27]. As mentioned before, the main advantages of an early diagnosis of cardiac malformation are the possibility of adequate preparation for childbirth and neonatal care and early interventions in utero. However, it is inevitable to consider the consequences of a diagnosis of cardiac malformation have in the prenatal period, leading to a set of complex emotional states in parents who have to move away from the concept of “healthy condition” of their future child and eventually undertake the difficult choice of TOP [6]. Annually in the European Union, it has been estimated that 36000 children are live-born with CHD [28]. Increasing prenatal detection may lead to a reduced birth incidence of severe complex CHD through a high rate of TOP , even if this trend is not universal [29]. In the EUROCAT registry, a total of 31% of prenatally diagnosed nonchromosomal CHD resulted in TOP [28]. The parent’ s choice to TOP is conditioned by several factors as listed below [30–32]: 1. ethical and/or religious reasons; 2. current legislation; 3. severity of cardiac malformation; 4. impact of heart disease on quality of life; 5. possibly associated extracardiac malformations; 6. underlying genetic condition; 7. complexity of cardiac surgery; 8. prediction of survival to adulthood and long-term quality of life; Additional components that influence the couple’ s decision-making process include the socioeconomic status, the age of the parents, and the overall family context (caregivers) [33].

It is also reported in the literature that the “pressure” regarding the choice to terminate a pregnancy following multidisciplinary counseling is greater when listening to gynecologists than to pediatric cardiologists and cardiac surgeons [34]. A French study reports an interesting analysis of isolated CHD fetuses; concluding that more than half of the choices for termination of pregnancy were based on the “complexity” of heart disease as HLHS, univentricular heart, pulmonary valve atresia, aortic stenosis [6]. It is, therefore, essential to transfer adequate and precise counseling to the couple without limiting the decision-making process. Thus, considering the information that is offered to parents by pediatric cardiologists and cardiac surgeons regarding the diagnosis of hypoplastic left heart syndrome, it is not surprising that the choice for TOP will increase in this condition because this CHD has a poor post-natal outcome with an impact on the quality of life of the newborn, given the multistage palliative surgery and the surgical risks associated with each intervention [35]. After these considerations, we should if fetal echocardiography should be performed ignoring the consequence of such acts [36]. This debate is still ongoing today, asking questions about the impact that prenatal ultrasound diagnosis can have on the future of humanity [37 , 38]. 4.3 Fetal counseling Since the prenatal diagnosis of fetal malformation has improved and it’ s now possible to detect or suspect a fetal malformation from the mid-gestation, it has been necessary to improve the counseling, paying attention to the ethical and psychological aspects related to this issue [39–42]. This is an important issue raised by the large and growing scientific literature on this argument [39–42]. As a consequence of these observations, many authors [43, 44] suggest that is necessary that counseling is performed by a multidisciplinary team comprising the obstetrician, the cardiologist, the surgeon, and the psychologist, in order to provide a fully comprehensive information to the parents. The passage from paternalistic medicine to defensive medicine, which recognizes

The Impact of Fetal Echocardiography on the Prognosis of Congenital Heart Disease DOI: http://dx.doi.org/10.5772/intechopen.104828 the patient’ s right to have full information, incites the doctor to tell the truth, even in the case of the inauspicious diagnosis of a life-threatening illness. During counseling, at the communicative level, the challenge is not “whether to tell the truth, but rather, how to tell it”. Since CHD is a significant cause of morbidity and mortality in the newborns, its diagnosis may lead to a huge crisis in the affected families, considering the perceived implications of having an abnormality of such vital an organ. The severity of the crisis depends not only on the nature of the abnormality, but also upon its perceived seriousness and whether the defect is correctable. During the pregnancy, parents idealize the newborn and give him/her qualities, feelings, and capacities that they wish. The birth of a baby with a malformation is a sorrow including the death of the imagined child. The majority of the diagnosis of fetal congenital heart disease occurs after the 18th week of gestation, when the mother already feels the first fetal movements, and the baby is part of her body [45]. During counseling, parents need to know if there is a possibility of repair and what is the risk of the procedures, and how will be the child’ s quality of life. Some authors analyzed the mother’ s desire for more information on prenatal diagnosis of fetal abnormality [46]. Some mothers preferred to have increased information upfront in order to “wrap their head around the disease, ” while other mothers felt that too much information upfront increased anxiety and would rather “cross that bridge when they came to it. ”

The explanation should possibly be given with both parents present, allowing each to provide support to the other, considering that the impact may be different on either parent, since each may perceive the abnormality differently. 4.4 Genetic counseling The etiology of congenital heart disease is currently the focus of intense research. The ideal genetic counseling for cardiovascular malformations includes a thorough understanding of the anatomy, management, and outcome of the particular defect, identification of other affected family members, and careful pedigree analysis for prediction of familial risks, identification of associated malformations or syndromes, and options for prenatal diagnosis [2]. Preferably, genetic counseling should be provided both by a clinical geneticist with adequate knowledge about cardiac defects and outcomes and by a pediatric cardiologist who has good knowledge and skills in genetic issues. In the past, genetic counseling for isolated congenital cardiovascular malformations (i.e., without extracardiac malformations or syndromic diagnosis) was transmitted as an advice, with the use of overall recurrence risk for first-degree relatives of 2–5%. These malformations were reputed to be multifactorial, but recent studies suggest that specific genetic influences may be more important than previously recognized, and that certain malformations are more likely to have a stronger genetic component [47 , 48].