REVIEW ARTICLE
LAGE, Tereza Christina Moterani Junqueira [1], MARINS, Fernanda Ribeiro [2]
LAGE, Tereza Christina Moterani Junqueira. MARINS, Fernanda Ribeiro. The Importance of Fetal Echocardiography in the Early Detection and Management of Postnatal Cardiac Anomalies. Revista Científica Multidisciplinar Núcleo do Conhecimento. Year 09, Ed. 07, Vol. 01, pp. 119-132. July 2024. ISSN: 2448-0959, Access link: https://www.nucleodoconhecimento.com.br/health/fetal-echocardiography, DOI: 10.32749/nucleodoconhecimento.com.br/health/fetal-echocardiography
Congenital heart anomalies are a significant cause of infant morbidity and mortality globally, requiring complex care from the prenatal period through adulthood. Fetal echocardiography stands out as an essential tool for the early diagnosis of these anomalies, allowing for planned therapeutic interventions and reducing the risk of severe complications after birth. The aim of this literature review is to compare neonatal outcomes between cases diagnosed in utero and those not diagnosed in utero, in order to provide solid evidence to improve clinical practices and enhance health outcomes for newborns affected by congenital heart anomalies. Additionally, it aims to promote health education in this region and in the medical field of diagnostic imaging. Studies show that prenatal diagnosis is associated with better neonatal outcomes, including lower morbidity and mortality and a reduction in the need for emergency surgeries. Despite advances in technology, the examination is still not accessible to everyone and is not routinely prescribed, resulting in the detection of heart anomalies only after birth, leading to serious complications. The literature review highlights the importance of multidisciplinary collaboration and the need for health education to improve access to early diagnosis in resource-limited areas. The review demonstrates that fetal echocardiography plays a crucial role in the early identification and effective management of congenital heart anomalies, significantly improving neonatal health outcomes.
Keywords: Fetal echocardiography, Fetal ultrasonography, Prenatal diagnosis of heart diseases, Congenital heart anomalies, Neonatal outcomes.
Congenital Heart Diseases (CHD) represent one of the leading causes of infant morbidity and mortality worldwide, requiring complex medical interventions and intensive care from the neonatal period through adulthood. Early detection of these anomalies is crucial for the planning of therapeutic interventions and for reducing the risk of severe complications after birth. In this context, fetal echocardiography stands out as a non-invasive and highly sensitive diagnostic tool for prenatal evaluation of the fetal cardiovascular system (Donofrio, 2018).
The ability of fetal echocardiography to provide detailed information about cardiac structure and function, even during the early stages of pregnancy, has revolutionized obstetric and cardiological practice. Through early identification of cardiac anomalies, it is possible to establish specific management strategies for each case, including preparation for immediate neonatal surgical interventions, when necessary, and referral to specialized pediatric cardiology centers (Moon-Grady et al., 2023).
The clinical relevance of intrauterine diagnosis of CHD directly impacts postnatal outcomes and the quality of life of patients. Studies have consistently demonstrated that prenatal diagnosis of CHD is associated with better neonatal outcomes, including lower morbidity and mortality, reduced need for emergency surgeries, and a significant decrease in cardiac complications during the neonatal period (Soares, 2020).
However, despite advances in fetal echocardiography technology, many cases of CHD are still diagnosed only after birth, often unexpectedly during the neonatal period. These cases are frequently associated with severe complications, including heart failure, arrhythmias, and cardiogenic shock, which can result in significant morbidity and mortality.
Given this scenario, there is a need for a thorough evaluation of the importance of fetal echocardiography in preventing adverse postnatal outcomes in cases of CHD. This literature review aims to address this gap in the scientific literature by comparing neonatal outcomes between cases diagnosed in utero and those not diagnosed in utero, in order to provide solid evidence to improve clinical practices and enhance health outcomes for newborns affected by CHD. Additionally, the work aims to present the method of fetal echocardiography and its scientific relevance to the microregion of Circuito das Águas (South of Minas Gerais, Brazil), where the incidence of requests for fetal echocardiography exams is low, hindering access to diagnosis, and consequently early intervention, prevention of clinical complications, and redirection to referral centers, thereby minimizing the morbidity and mortality associated with these conditions. Therefore, the present study has the additional objective of promoting maternal and child health education for the medical field of diagnostic imaging, contributing to the improvement of the local population’s quality of life.
Searches were conducted using the artificial intelligence https://researchrabbitapp.com/, which queries the PubMed, Scopus, and Web of Science databases using the following search terms in Portuguese and English: (“ecocardiografia fetal” OR “ultrassonografia fetal” OR “diagnóstico pré-natal de cardiopatias”) AND (“desfechos neonatais” OR “morbidade neonatal” OR “mortalidade neonatal”), filtering 15 articles. Studies that met the following eligibility criteria were included:
Excluded were studies with the following characteristics:
Data were independently extracted by two reviewers using a standardized form. The following information was recorded for each included study: author(s), year of publication, country of origin of the study, study design, characteristics of the studied population (number of patients, gestational age at the time of diagnosis, type of CHD), evaluated neonatal outcomes, and main findings.
Quantitative data were summarized using appropriate summary measures. A qualitative analysis was conducted to summarize the main findings of the included studies and identify consistent patterns or discrepancies among the results.
This study used only publicly available data and did not involve the collection of new patient data. Therefore, no additional ethical approval was required.
Potential limitations of this study include the possibility of selection bias due to the inclusion of only studies available in indexed scientific literature, as well as heterogeneity among the included studies in terms of study designs, studied populations, and evaluated outcomes.
The selected studies provided substantial evidence on neonatal outcomes in patients with CHD, comparing cases diagnosed in utero with those not diagnosed before birth. A systematic review conducted by Soares (2020) found that patients with prenatal diagnosis of CHD had a significant reduction in neonatal mortality compared to those whose conditions were diagnosed after birth. These findings underscore the importance of early diagnosis and appropriate intervention to improve neonatal outcomes in cases of CHD.
The study conducted by the British Pediatric Cardiac Association between 1993 and 1995 focused on analyzing the prevalence, spectrum, and impact of fetal CHD diagnosis. The study found that approximately 23.4% of pregnancies were diagnosed with CHD before birth, with 11.7% of affected babies being born alive, highlighting the importance of prenatal diagnosis. In addition to the relevance of prenatal diagnosis for early identification of the condition, it is estimated that with improved fetal detection rates, about 218 births of affected babies requiring cardiac intervention in childhood could be avoided annually (Bull, 1999). This information highlights the importance of investing in strategies that allow for proper management of this condition, aiming to minimize impacts and provide better care and quality of life prospects for affected individuals.
These findings emphasize the importance of early fetal diagnosis of CHD, not only for appropriate clinical management but also to potentially reduce the number of births of babies with these conditions who require early medical interventions. Early identification of these dysfunctions can influence treatment decisions and improve perinatal outcomes, demonstrating the relevance of collaboration among obstetricians, neonatologists, pediatric cardiologists, and health service planners.
Interdisciplinary collaboration is emphasized as crucial for providing comprehensive support to parents and ensuring timely and effective treatment of newborns with CHD. Interdisciplinary interaction and technological advancements are fundamental for improving clinical outcomes in neonates and children with these conditions (Nelle et al., 2009).
Supporting the above considerations, Donofrio (2018) highlights in his work that advancements in fetal echocardiography represent an important tool in the prenatal assessment of cardiac anatomy and physiology, allowing for a detailed characterization of cardiac anomalies and the prediction of the progression of these abnormalities during pregnancy and at the time of delivery. Through fetal echocardiography, it is possible to identify congenital heart defects early and stratify the risk of postnatal hemodynamic instability, which enables the creation of individualized perinatal care plans for higher-risk fetuses. Additionally, multidisciplinary collaboration among various medical specialties, including fetal and pediatric cardiologists, obstetricians, neonatologists, and surgeons, is essential for the proper management of newborns with prenatal diagnosis of CHD. These advancements in fetal echocardiography have the potential to significantly improve clinical outcomes and reduce perioperative morbidity and mortality in infants with these complex cardiac conditions.
In addition to neonatal mortality, it is important to assess the range of outcomes, including neonatal morbidity, the need for neonatal cardiac surgery, and postnatal cardiac complications. A meta-analysis conducted by Dos Santos et al. (2022) demonstrated that patients with prenatal diagnosis of congenital heart diseases had a lower incidence of postnatal cardiac complications, such as arrhythmias and heart failure, compared to those diagnosed after birth. Furthermore, patients diagnosed in utero experienced a reduction in the need for emergency neonatal cardiac surgery, which is associated with better long-term outcomes.
According to Nelle et al. (2009), fetal echocardiography in tertiary perinatal centers has shown detection rates of CHD ranging from 85% to 95%. Additionally, the progression of complex congenital heart lesions can lead to further complications, such as arrhythmias and heart failure, highlighting the need for appropriate therapeutic interventions. Minimally invasive fetal therapy, including intrauterine interventions for certain CHD, represents a promising evolving approach. However, further studies are needed to evaluate the effectiveness and long-term outcomes of these prenatal interventions. The findings of this work underscore the importance of early detection, accurate diagnosis, and appropriate treatment of pediatric conditions, especially those related to CHD.
The work of Stümpflen et al. (1996) is noteworthy, in which prenatal detection of CHD through detailed echocardiography was performed on 46 out of 3,085 examined fetuses, resulting in an incidence of 14.9 per 1,000. The sensitivity of detailed fetal echocardiography in detecting the diseases was 88.5%, with specificity at 100%. There were no false positives, so specificity and positive predictive value remained at 100%. Additionally, cases of CHD identified only postnatally were all considered minor CHDs. The incidence of heart diseases was higher than expected in the general population due to the inclusion of a high-risk patient group. Detection of congenital heart defects in fetuses without known risk factors was highlighted as significant, emphasizing the importance of detailed echocardiography in all routine cases. The association between heart defects and otherwise undiagnosed chromosomal anomalies was emphasized as a crucial reason for implementing detailed prenatal screening of the fetal heart. Early detection of critical heart defects allowed for informing parents about the diagnosis and its severity.
Additionally, a study aimed to determine the prevalence and spectrum of CHD and the impact of a national prenatal ultrasound screening program on outcomes in a well-characterized national population over 21 years (1986-2006) in the Czech Republic. This centralized study allowed for clinical and autopsy confirmation of both prenatal and postnatal findings (Marek et al., 2011). Out of 9,475 fetuses undergoing detailed cardiac evaluation, 1,604 (16.9%) were diagnosed with CHD, of which 501 (31.2%) had additional extracardiac anomalies. Among the pregnancies that continued, 59 (8.6%) of the 685 fetuses died in utero, and 626 (91.4%) babies were born alive. The prenatal detection rate was highest for double outlet right ventricle (77.3%) and hypoplastic left heart syndrome (50.6%). There was a significant increase in the detection rate for 12/17 lesions when comparing the periods of 1986-1999 and 2000-2006.
The aforementioned authors highlight that the national prenatal ultrasound screening program allowed for the detection of significant CHD in one-third of patients born with any CHD and in 80% of those with critical forms. However, due to the severity of the lesions and associated extracardiac anomalies, the overall mortality of cases with prenatal diagnosis of CHD remains high (Marek et al., 2011). The study findings demonstrate the importance of prenatal ultrasound screening in the early detection of CHD but also emphasize the need for specialized follow-up and care to improve outcomes and survival of affected patients.
Fetal echocardiography has proven to be highly effective in detecting cardiac arrhythmias in fetuses. In the observational and descriptive study by Al-Fahham et al. (2021), which included 101 pregnant women referred for fetal echocardiography, it was observed that 46.5% of fetuses had cardiac abnormalities, including congenital heart defects, fetal arrhythmias, cardiomyopathy, and cardiac masses. These cases included fetal arrhythmias such as tachyarrhythmias, ectopies, and congenital heart block. Fetal echocardiography was able to diagnose these arrhythmias with 100% accuracy, allowing for appropriate treatment during the fetal period. Additionally, the study highlighted that cases of fetal supraventricular tachycardia were successfully managed in utero, demonstrating the effectiveness of fetal echocardiography in managing fetal cardiac arrhythmias. The authors also emphasized that early detection of CHD can lead to better clinical management, improved health outcomes, reduced morbidity and mortality, immediate treatment after birth, enhanced chances of a positive outcome, and a smoother transition to specialized postnatal care.
The study on ectopia cordis through echocardiography revealed significant findings that provide valuable insights into this rare condition (Araújo Júnior et al., 2023). Key results include a comprehensive analysis of prenatal diagnosis, perinatal outcomes, and postnatal follow-up of fetuses affected by ectopia cordis. A retrospective study involving 31 patients with ectopia cordis in tertiary Fetal Medicine centers in Brazil, Germany, Italy, and Poland found that most cases exhibited complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, with a mean gestational age at diagnosis of approximately 20.3 weeks and a mean maternal age of 28 years. This study pointed out high mortality rates associated with ectopia cordis, as well as the importance of early detection and continuous follow-up to understand and appropriately manage this complex condition.
According to the “Guidelines and Recommendations for Performing Fetal Echocardiography: An Update from the American Society of Echocardiography” (2023), the ideal time for performing a comprehensive transabdominal fetal echocardiogram is between 18 and 22 weeks of gestation. Advances in ultrasound technology allow for fetal heart evaluation from 12 to 14 weeks of gestation. These early exams are especially indicated for fetuses at high risk for cardiac abnormalities. Initial exams should be repeated later in the second trimester, even if initial results are normal. Assessments near term are conducted when findings may influence immediate postnatal management. The guideline also emphasizes that fetal echocardiography can be performed before 18 weeks and should be considered for patients with suspected CHD at the end of the first trimester, depending on local resources and expertise. There is insufficient evidence to recommend early fetal echocardiography (before 16 weeks) for low-risk pregnancies, but the exam is feasible and can be used for high-risk pregnancies or those with known abnormal findings on screenings (Moon-Gradye et al., 2023).
Han et al. (2021) showed that prenatal diagnosis of congenital heart diseases is associated with a significantly lower one-year survival rate compared to postnatal diagnosis (77.1% for those diagnosed prenatally versus 96.1% for those diagnosed postnatally), especially for critical congenital heart diseases (73.4% for those diagnosed prenatally versus 90% postnatally). Additionally, a later age at diagnosis is associated with better one-year survival rates.
Similarly, Carvalho et al. (2021) demonstrated that obstetric ultrasound has an accuracy of 81.8%, sensitivity of 57.1%, and specificity of 93.3%, while fetal echocardiography has an accuracy of 97.7%, sensitivity of 100%, and specificity of 96.8% in diagnosing congenital heart diseases in a secondary-level hospital in Brazil. The study highlights the importance of early diagnosis to refer complex cases to specialized centers.
The importance of prenatal diagnosis of congenital heart defects through fetal echocardiography facilitates early interventions and adequate planning for birth (Sun, 2021). Emphasis on detailed evaluation of the fetal heart is essential for predicting postnatal complications. Intrauterine cardiac physiology guides collaborative maternal-fetal care. The major limitation for prenatal diagnosis of congenital heart diseases still lies in the reliance on professionals to identify affected or at-risk pregnancies, and thus, ongoing educational efforts should focus on raising awareness about the importance of this examination as part of routine prenatal screenings, not limited to high-risk groups.
These results highlight the importance of fetal echocardiography and ultrasound in the early diagnosis of congenital heart diseases (CHDs) and informed clinical decision-making. Prenatal detection of these conditions allows for timely and planned intervention, including referral to specialized pediatric cardiology centers, which can result in better neonatal outcomes and reduced morbidity and mortality associated with congenital heart diseases.
Over the past four decades, fetal echocardiography has evolved into a highly effective non-invasive tool for detecting, classifying, and assessing the risk of fetal cardiovascular diseases, demonstrating high sensitivity and specificity. Standards for imaging, reporting, and communicating test results have also improved.
However, it is important to acknowledge that prenatal detection of CHDs can present challenges, including identifying cases of low complexity or subtle cardiac abnormalities. Additionally, the availability of resources and the expertise of healthcare professionals in interpreting imaging findings can also influence detection rates and the accuracy of prenatal diagnosis.
In summary, the findings of this review underscore the significance of prenatal diagnosis of CHDs in improving neonatal outcomes and reducing the morbidity and mortality associated with these conditions.
Fetal echocardiographic diagnosis is crucial for the care of fetuses with congenital heart disease or rhythm or cardiac function disorders, as it enables comprehensive prenatal counseling to the family, organization of psychosocial support, provision of comprehensive perinatal care, and coordination of birth planning. After diagnosis, the fetal cardiologist should collaborate with obstetric care professionals to determine the implications for the fetus and the pregnant woman throughout the remainder of the pregnancy, the need for follow-up visits, and the level of neonatal care required. Depending on the type and severity of the fetal CHD, it may be prudent to perform serial fetal echocardiograms to assess changes in fetal status and guide postnatal management.
Brazil is a country with diverse realities that influence the training and practice of medical specialties. It is important to note that diagnoses are made in microregions, but treatments are centralized in a few reference hospitals. In this context, medical education in the microregions where fetal echocardiography specialists are located is essential so that local medical professionals request routine fetal echocardiography during prenatal care, which is proven to be a valuable tool for the early diagnosis of congenital heart diseases (CHDs). Additionally, as highlighted in the literature review above, the earlier the diagnosis, the better the logistics for referring these pregnant women to reference centers, which also impacts the reduction of fetal morbidity and mortality.
Future research may focus on refining fetal imaging techniques, as well as evaluating the economic and social impacts of early diagnosis of CHDs.
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The authors used the ChatGPT AI and GPT-4 free access version for spelling and grammatical corrections of the material. However, all content searches, article quality assessments, and writing were conducted in an authorial manner.
[1] Executive MBA in Clinic, Hospital, and Health Industry Management (FGV). Postgraduate Lato Sensu in Fetal Echocardiography from Faculdade Cetrus Sanar. Medical Radiologist CRM 55398 and Specialist Registration in Radiology and Diagnostic Imaging RQE 43,299. ORCID: https://orcid.org/0009-0009-2341-2546. Currículo Lattes: http://lattes.cnpq.br/6649435854533209.
[2] Advisor. Postdoctoral, Doctorate, and Master’s degrees in Physiology and Pharmacology at the Hypertension Laboratory in the Department of Physiology and Biophysics at UFMG. Specializations in Lato Sensu in Systemic Acupuncture, Cardiorespiratory Physiotherapy, Pediatric Physiotherapy, Neurofunctional Physiotherapy, Psychomotricity, and Management and Leadership of Teams. Physiotherapist. ORCID: https://orcid.org/0000-0003-2735-5701. Currículo Lattes: http://lattes.cnpq.br/7661860963016166.
Material received: June 24, 2024.
Material peer-reviewed: July 11, 2024.
Edited material approved by authors: July 15, 2024.
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