Diagnosis and Treatment of Fetal Cardiac Disease: A Scientific Statement From the American Heart Association
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Background—: The goal of this statement is to review available literature and to put forth a scientific statement on the current practice of fetal cardiac medicine, including the diagnosis and management of fetal cardiovascular disease. Methods and Results—: A writing group appointed by the American Heart Association reviewed the available literature pertaining to topics relevant to fetal cardiac medicine, including the diagnosis of congenital heart disease and arrhythmias, assessment of cardiac function and the cardiovascular system, and available treatment options. The American College of Cardiology/American Heart Association classification of recommendations and level of evidence for practice guidelines were applied to the current practice of fetal cardiac medicine. Recommendations relating to the specifics of fetal diagnosis, including the timing of referral for study, indications for referral, and experience suggested for performance and interpretation of studies, are presented. The components of a fetal echocardiogram are described in detail, including descriptions of the assessment of cardiac anatomy, cardiac function, and rhythm. Complementary modalities for fetal cardiac assessment are reviewed, including the use of advanced ultrasound techniques, fetal magnetic resonance imaging, and fetal magnetocardiography and electrocardiography for rhythm assessment. Models for parental counseling and a discussion of parental stress and depression assessments are reviewed. Available fetal therapies, including medical management for arrhythmias or heart failure and closed or open intervention for diseases affecting the cardiovascular system such as twin–twin transfusion syndrome, lung masses, and vascular tumors, are highlighted. Catheter-based intervention strategies to prevent the progression of disease in utero are also discussed. Recommendations for delivery planning strategies for fetuses with congenital heart disease including models based on classification of disease severity and delivery room treatment will be highlighted. Outcome assessment is reviewed to show the benefit of prenatal diagnosis and management as they affect outcome for babies with congenital heart disease. Conclusions—: Fetal cardiac medicine has evolved considerably over the past 2 decades, predominantly in response to advances in imaging technology and innovations in therapies. The diagnosis of cardiac disease in the fetus is mostly made with ultrasound; however, new technologies, including 3- and 4-dimensional echocardiography, magnetic resonance imaging, and fetal electrocardiography and magnetocardiography, are available. Medical and interventional treatments for select diseases and strategies for delivery room care enable stabilization of high-risk fetuses and contribute to improved outcomes. This statement highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.
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Congenital heart diseases have an incidence of 6-12/1000 livebirths.
“congenital heart diseases (CHDs), with an incidence of 6–12/1000 livebirths [46]”
Fetal echocardiography is the gold standard for the diagnosis of congenital heart block.
“Fetal echocardiography is the gold standard for the diagnosis of congenital heart block. 4”
From Anesthetic management of bed-to-bed surgery for epicardial pacemaker implantation in neonates with congenital complete heart block: Case report (2024) · cites this paper as [4]
CHD screening can be started at 11 weeks of gestation using a 4-chamber view, and sensitivity can increase to 92% at 13 weeks of gestation.
“CHD screening can be started at 11 weeks of gestation by using a 4-chamber view (4CV), and sensitivity can increase to 92% at 13 weeks of gestation [5,6].”
From Deep Learning for Improving the Effectiveness of Routine Prenatal Screening for Major Congenital Heart Diseases (2022) · cites this paper as [6]
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- Authors
- Donofrio, M. T., Moon-Grady, A. J., Hornberger, L. K., Copel, J. A., Sklansky, M. S., Abuhamad, A., Cuneo, B. F., Huhta, J. C., Jonas, R. A., Krishnan, A., Lacey, S., Lee, W., Michelfelder, E. C., Rempel, G. R., Silverman, N. H., Spray, T. L., Strasburger, J. F., Tworetzky, W., & Rychik, J.
- ORCID
- Venue
- Circulation
- Published
- 2014-05-27
- Volume
- 129
- Issue
- 21
- Pages
- 2183-2242
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2007344602
- Cited by
- 1,275
- References
- 599
- Citations by year
- 2026: 117 · 2025: 128 · 2024: 147 · 2023: 151 · 2022: 119 · 2021: 102 · 2020: 124 · 2019: 92 · 2018: 91 · 2017: 75 · 2016: 72 · 2015: 46 · 2014: 8 · 2013: 1
- FWCI
- 50.76
- Type
- journal article
- Language
- en
- Update notices
- correction (2014-05-27)
- Open access
- bronze
- doi.org
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Topics
- Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
- Keywords
- congenital heart disease, fetal arrhythmia, fetal echocardiography, fetal MRI, fetal magnetocardiography, fetal electrocardiogram, fetal heart failure, twin-twin transfusion syndrome, delivery planning, prenatal diagnosis, parental counseling, parental depression
- MeSH terms
- American Heart Association, Female, Heart Defects, Congenital, Heart Diseases, Humans, Pregnancy, Prenatal Diagnosis, United States, Treatment Outcome
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