Dataset Information

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.

ABSTRACT: 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.

SUBMITTER: Bakker MK

PROVIDER: S-EPMC6609145 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.

Bakker Marian K MK Bergman Jorieke E H JEH Krikov Sergey S Amar Emmanuelle E Cocchi Guido G Cragan Janet J de Walle Hermien E K HEK Gatt Miriam M Groisman Boris B Liu Shiliang S Nembhard Wendy N WN Pierini Anna A Rissmann Anke A Chidambarathanu Shanthi S Sipek Antonin A Szabova Elena E Tagliabue Giovanna G Tucker David D Mastroiacovo Pierpaolo P Botto Lorenzo D LD

BMJ open 20190702 7

<h4>Objectives</h4>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.<h4>Setting</h4>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.<h4>Participants</h4>Live births, stillbirths and elective terminations of pre ...[more]

PMID: 31270117

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Project description:ImportancePrenatal 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.ObjectiveTo 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 participantsThis 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.ExposuresFetal cardiovascular magnetic resonance examination requested by the patient's pediatric cardiologist.Main outcomes and measuresAny change in patient management because of diagnostic information gained from fetal cardiovascular magnetic resonance imaging.ResultsA 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 relevanceIn 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.

Project description:BackgroundThere are still inconsistent conclusions about the association of prenatal alcohol drinking with congenital heart defects (CHDs). We conducted this meta-analysis to investigate the association between prenatal alcohol exposure and the risk of overall CHDs and the CHDs subtypes.MethodsCase-control and cohort studies published before March 2015 were searched through PubMed and Embase. Two authors independently extracted data and scored the study quality according to the Newcastle-0ttawa Scale. The pooled ORs and 95%CI were estimated using the random-effects model and heterogeneity was assessed by the Q test and I2 statistic.ResultsA total of 20 studies were finally included. The results provided no evidence of the association between prenatal alcohol exposure and the risk of overall CHDs (OR = 1.06, 95%CI = 0.93-1.22), ventricular septal defects (VSDs) (OR = 1.04, 95%CI = 0.86-1.25), or atrial septal defects (ASDs) (OR = 1.40, 95%CI = 0.88-2.23). However, prenatal alcohol drinking was marginally significantly associated with conotruncal defects (CTDs) (OR = 1.24, 95%CI = 0.97-1.59) and statistically significantly associated with d-Transposition of the Great Arteries (dTGA) (OR = 1.64, 95%CI = 1.17-2.30). Moreover, both prenatal heavy drinking and binge drinking have a strong association with overall CHDs (heavy drinking: OR = 3.76, 95%CI = 1.00-14.10; binge drinking: OR = 2.49, 95%CI = 1.04-5.97), and prenatal moderate drinking has a modest association with CTDs (OR = 1.35, 95%CI = 1.05-1.75) and dTGA (OR = 1.86, 95%CI = 1.09-3.20).ConclusionsIn conclusion, the results suggested that prenatal alcohol exposure was not associated with overall CHDs or some subtypes, whereas marginally significant association was found for CTDs and statistically significant association was found for dTGA. Further prospective studies with large population and better designs are needed to explore the association of prenatal alcohol exposure with CHDs including the subtypes in specific groups.

Dataset Information

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.

Publications

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.

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