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.

Arkansas Reproductive Health Monitoring System University of Arkansas for Medical Sciences Fay W Boozman College of Public Health and the Arkansas Children's Research Institute Little Rock Arkansas USA

Birth Defects Registry of India Mediscan Systems Chennai India

Congenital Anomaly Register and Information Service for Wales Public Health Wales Swansea Wales UK

Department of Genetics Eurocat registration Northern Netherlands University of Groningen University Medical Center Groningen Groningen The Netherlands

Division of Medical Genetics Department of Pediatrics University of Utah Salt Lake City Utah USA

Institute of Clinical Physiology National Research Council and Fondazione Toscana Gabriele Monasterio Tuscany Registry of Congenital Defects Pisa Italy

Institute of Medical Biology and Genetics 1st Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

International Center on Birth Defects University of Utah Salt Lake City Utah USA

Lombardy Birth Defects Registry Fondazione IRCCS Instituto Nazionale Tumori Milan Italy

Malformation Monitoring Centre Medical Faculty Otto von Guericke University Magdeburg Germany

Malta Congenital Anomalies Registry Directorate for Health Information and Research Malta Malta

Maternal Child and Youth Health Division Public Health Agency of Canada Ottawa Canada

Metropolitan Atlanta Congenital Defects Program National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta Georgia USA

National Network of Congenital Anomalies of Argentina National Center of Medical Genetics National Ministry of Health Buenos Aires Argentina

Neonatology Unit S Orsola Malpighi Hospital Department of Medical and Surgical Sciences University of Bologna Bologna Italy

Registre Des Malformations en Rhone Alpes REMERA Lyon France

Slovak Teratologic Information Centre Slovak Medical University Bratislava Slovakia

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