Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study
David Tucker,
Sergey Krikov,
Lorenzo D Botto,
Hermien E K de Walle,
Miriam Gatt,
Anna Pierini,
Anke Rissmann,
Marian K Bakker,
Jorieke E H Bergman,
Emmanuelle Amar,
Guido Cocchi,
Janet Cragan,
Boris Groisman,
Wendy N Nembhard,
Shanthi Chidambarathanu,
Antonin Sipek Jr,
Elena Szabova,
Giovanna Tagliabue,
Pierpaolo Mastroiacovo
Affiliations
David Tucker
Congenital Anomaly Register and Information Service for Wales, Public Health Wales, Swansea, Wales, UK
Sergey Krikov
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Lorenzo D Botto
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Hermien E K de Walle
Department of Genetics, Groningen University, Groningen, The Netherlands
Miriam Gatt
8 Department of Health Information, Malta Congenital Anomalies Registry, G’mangia, Malta
Anna Pierini
Institute of Clinical Physiology National Research Council, Pisa, Italy
Anke Rissmann
23 Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany
Marian K Bakker
Department of Genetics, Eurocat registration Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
Jorieke E H Bergman
5 Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
Emmanuelle Amar
Registre Des Malformations en Rhone Alpes, REMERA, Lyon, France
Guido Cocchi
Neonatology Unit, S.Orsola-Malpighi Hospital, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
Janet Cragan
Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Boris Groisman
7 National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health, Buenos Aires, Argentina
Wendy N Nembhard
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
Shanthi Chidambarathanu
Birth Defects Registry of India, Mediscan Systems, Chennai, India
Antonin Sipek Jr
Institute of Medical Biology and Genetics First Faculty of Medicine Charles University and General University Hospital, Prague, Czech Republic
Elena Szabova
Slovak Teratologic Information Centre (FPH), Slovak Medical University, Bratislava, Slovakia
Giovanna Tagliabue
Lombardy Birth Defects Registry, Fondazione IRCCS Instituto Nazionale Tumori, Milan, Italy
Pierpaolo Mastroiacovo
International Center on Birth Defects, University of Utah, Salt Lake City, Utah, USA
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.
