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      Utility of Fetal Cardiovascular Magnetic Resonance for Prenatal Diagnosis of Complex Congenital Heart Defects

      research-article
      , MD 1 , , MD 2 , , MD 2 , , MD, PhD 1 , , MD, PhD 2 , , MD, PhD 1 , 3 ,
      JAMA Network Open
      American Medical Association

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          Key Points

          Question

          Does fetal cardiovascular magnetic resonance improve prenatal diagnosis of complex congenital heart defects when fetal echocardiography is insufficient?

          Findings

          In this cohort study of 31 fetuses referred for fetal cardiovascular magnetic resonance imaging, additional clinically useful information regarding cardiovascular anatomy and function was obtained in 84% of referred cases, covering a wide spectrum of congenital heart defects. This information affected choice of mode of delivery, planning of early postnatal care, and parental counseling.

          Meaning

          These findings suggest that fetal cardiovascular magnetic resonance imaging can add important diagnostic information and affect clinical decision-making and parental counseling.

          Abstract

          This cohort study assesses the clinical utility of fetal cardiovascular magnetic resonance imaging when fetal echocardiography could not visualize all relevant anatomy.

          Abstract

          Importance

          Prenatal diagnosis of complex congenital heart defects reduces mortality and morbidity in affected infants. However, fetal echocardiography can be limited by poor acoustic windows, and there is a need for improved diagnostic methods.

          Objective

          To assess the clinical utility of fetal cardiovascular magnetic resonance imaging in cases in which fetal echocardiography could not visualize all relevant anatomy.

          Design, Setting, and Participants

          This cohort study was conducted between January 20, 2017, and June 29, 2020, at Skåne University Hospital (Lund, Sweden), a tertiary center for pediatric cardiology and thoracic surgery. Participants were fetuses referred for fetal cardiovascular magnetic resonance examination by a pediatric cardiologist after an inconclusive echocardiograph.

          Exposures

          Fetal cardiovascular magnetic resonance examination requested by the patient’s pediatric cardiologist.

          Main Outcomes and Measures

          Any change in patient management because of diagnostic information gained from fetal cardiovascular magnetic resonance imaging.

          Results

          A total of 31 fetuses underwent cardiovascular magnetic resonance examination at a median gestational age of 36 weeks (range, 31-39 weeks). Overall, fetal cardiovascular magnetic resonance imaging had clinical utility, affecting patient management and/or parental counseling in 26 cases (84%). For aortic arch anatomy including signs of coarctation (20 fetuses), fetal cardiovascular magnetic resonance imaging added diagnostic information in 16 cases (80%). For assessment of univentricular vs biventricular outcome in borderline left ventricle, unbalanced atrioventricular septal defect, and pulmonary atresia with intact ventricular septum (15 fetuses), fetal cardiovascular magnetic resonance imaging visualized intracardiac anatomy and ventricular function, allowing assessment of outcome in 13 cases (87%). In 4 fetuses with hypoplastic left heart syndrome, fetal cardiovascular magnetic resonance imaging helped delivery planning in 3 cases (75%). Finally, fetal cardiovascular magnetic resonance imaging provided valuable information for parental counseling in 21 cases (68%).

          Conclusions and Relevance

          In this cohort study, fetal cardiovascular magnetic resonance imaging added clinically useful information to what was available from echocardiography. These findings suggest that fetal CMR has the potential to affect clinical decision-making in challenging cases of congenital heart defects with inconclusive data from echocardiography. Fetal cardiovascular magnetic resonance imaging showed an association with clinical decision-making, including mode of delivery and early postnatal care, as well as with parental counseling.

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          Most cited references36

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          World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects.

          (2013)
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            Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis.

            Congenital heart disease (CHD) accounts for nearly one-third of all major congenital anomalies. CHD birth prevalence worldwide and over time is suggested to vary; however, a complete overview is missing. This systematic review included 114 papers, comprising a total study population of 24,091,867 live births with CHD identified in 164,396 individuals. Birth prevalence of total CHD and the 8 most common subtypes were pooled in 5-year time periods since 1930 and in continent and income groups since 1970 using the inverse variance method. Reported total CHD birth prevalence increased substantially over time, from 0.6 per 1,000 live births (95% confidence interval [CI]: 0.4 to 0.8) in 1930 to 1934 to 9.1 per 1,000 live births (95% CI: 9.0 to 9.2) after 1995. Over the last 15 years, stabilization occurred, corresponding to 1.35 million newborns with CHD every year. Significant geographical differences were found. Asia reported the highest CHD birth prevalence, with 9.3 per 1,000 live births (95% CI: 8.9 to 9.7), with relatively more pulmonary outflow obstructions and fewer left ventricular outflow tract obstructions. Reported total CHD birth prevalence in Europe was significantly higher than in North America (8.2 per 1,000 live births [95% CI: 8.1 to 8.3] vs. 6.9 per 1,000 live births [95% CI: 6.7 to 7.1]; p < 0.001). Access to health care is still limited in many parts of the world, as are diagnostic facilities, probably accounting for differences in reported birth prevalence between high- and low-income countries. Observed differences may also be of genetic, environmental, socioeconomical, or ethnic origin, and there needs to be further investigation to tailor the management of this global health problem. Copyright © 2011 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
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              Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

              Objectives To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality. Setting Fifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia. Participants Live births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014. Results 18 243 CCHD cases were reported among 8 847 081 births. The median total prevalence was 19.1 per 10 000 births but varied threefold between programmes from 10.1 to 31.0 per 10 000. CCHD were prenatally detected for at least 50% of the cases in one-third of the programmes. However, prenatal detection varied from 13% in Slovak Republic to 87% in some areas in France. Prenatal detection was consistently high for hypoplastic left heart syndrome (64% overall) and was lowest for total anomalous pulmonary venous return (28% overall). Surveillance programmes in countries that do not legally permit terminations of pregnancy tended to have higher live birth prevalence of CCHD. Most programmes showed an increasing trend in prenatally diagnosed CCHD cases. Discussion and conclusions Prenatal detection already accounts for 50% or more of CCHD detected in many programmes and is increasing. Local policies and access likely account for the wide variability of reported occurrence and prenatal diagnosis. Detection rates are high especially for CCHD that are more easily diagnosed on a standard obstetric four-chamber ultrasound or for fetuses that have extracardiac anomalies. These ongoing trends in prenatal diagnosis, potentially in combination with newborn pulse oximetry, are likely to modify the epidemiology and clinical outcomes of CCHD in the near future.
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                Author and article information

                Journal
                JAMA Netw Open
                JAMA Netw Open
                JAMA Netw Open
                JAMA Network Open
                American Medical Association
                2574-3805
                29 March 2021
                March 2021
                29 March 2021
                : 4
                : 3
                : e213538
                Affiliations
                [1 ]Clinical Physiology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden
                [2 ]Pediatric Cardiology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden
                [3 ]Diagnostic Radiology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden
                Author notes
                Article Information
                Accepted for Publication: February 6, 2021.
                Published: March 29, 2021. doi:10.1001/jamanetworkopen.2021.3538
                Open Access: This is an open access article distributed under the terms of the CC-BY License. © 2021 Salehi D et al. JAMA Network Open.
                Corresponding Author: Erik Hedström, MD, PhD, Clinical Physiology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, S-221 85 Lund, Sweden ( erik.hedstrom@ 123456med.lu.se ).
                Author Contributions : Dr Hedström had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.
                Concept and design: Arheden, Liuba, Hedström.
                Acquisition, analysis, or interpretation of data: Salehi, Fricke, Bhat, Hedström.
                Drafting of the manuscript: Salehi.
                Critical revision of the manuscript for important intellectual content: All authors.
                Obtained funding: Hedström.
                Administrative, technical, or material support: Arheden, Hedström.
                Supervision: Fricke, Arheden, Liuba, Hedström.
                Conflict of Interest Disclosures: Dr Arheden reported being an owner of Imacor Ab outside the submitted work. No other disclosures were reported.
                Funding/Support: This study was supported by the Swedish Heart-Lung Foundation (grant No. 2018/0510), Region Skåne, Skåne University Hospital, and Anna Lisa och Sven-Eric Lundgrens stiftelse för medicinsk forskning.
                Role of the Funder/Sponsor: The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
                Meeting Presentation: These data were presented at the Society for Cardiovascular Magnetic Resonance; February 13 to 15, 2020; Orlando, Florida.
                Article
                zoi210132
                10.1001/jamanetworkopen.2021.3538
                8008290
                33779747
                ae0b174a-0890-4665-87d6-6bc10b2714fa
                Copyright 2021 Salehi D et al. JAMA Network Open.

                This is an open access article distributed under the terms of the CC-BY License.

                History
                : 23 December 2020
                : 6 February 2021
                Categories
                Research
                Original Investigation
                Online Only
                Pediatrics

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