BACKGROUND: Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal and postnatal mortality for individuals with spina bifida remains. OBJECTIVES: To examine stillbirth and infant and child mortality among those affected by spina bifida using data from multiple countries. METHODS: We conducted an observational study, using data from 24 population- and hospital-based surveillance registries in 18 countries contributing as members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal anomaly (ETOPFA) were included. Among liveborn spina bifida cases, we calculated mortality at different ages as number of deaths among liveborn cases divided by total number of liveborn cases with spina bifida. As a secondary outcome measure, we estimated the prevalence of spina bifida per 10 000 total births. The 95% confidence interval for the prevalence estimate was estimated using the Poisson approximation of binomial distribution. RESULTS: Between years 2001 and 2012, the overall first-week mortality proportion was 6.9% (95% CI 6.3, 7.7) and was lower in programmes operating in countries with policies that allowed ETOPFA compared with their counterparts (5.9% vs. 8.4%). The majority of first-week mortality occurred on the first day of life. In programmes where information on long-term mortality was available through linkage to administrative databases, survival at 5 years of age was 90%-96% in Europe, and 86%-96% in North America. CONCLUSIONS: Our multi-country study showed a high proportion of stillbirth and infant and child deaths among those with spina bifida. Effective folic acid interventions could prevent many cases of spina bifida, thereby preventing associated childhood morbidity and mortality.

Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin TX US

CARIS The Congenital Anomaly Register for Wales Singleton Hospital Swansea UK

Department of Basic Sciences of Health School of Health Pontificia Universidad Javeriana Cali Cali Colombia

Department of Epidemiology Arkansas Center for Birth Defects Research and Prevention and Arkansas Reproductive Health Monitoring System Fay Boozman College of Public Health University of Arkansas for Medical Sciences Little Rock AR USA

Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA

Department of Medical Genetics Thomayer Hospital Prague Czech Republic

Department of Neonatology Soroka Medical Center Beer Sheva Israel

Department of Pediatrics University of Utah School of Medicine and the Utah Birth Defect Network Salt Lake City UT USA

Division of Congenital and Developmental Disorders National Center on Birth Defects and Development Disabilities Centers for Disease Control Atlanta GA USA

ECEMC Instituto de Salud Carlos 3 Madrid Spain

ECLAMC Center for Medical Education and Clinical Research Buenos Aires Argentina

Genetics Department Hospital Universitario Dr Jose E Gonzalez Universidad Autonóma de Nuevo León San Nicolás de los Garza Mexico

Health Services Management Research Centre Tabriz University of Medical Sciences Tabriz Iran

Human Genetics Institute Pontificia Universidad Javeriana Bogotá Colombia

Inserm UMR 1153 Obstetrical Perinatal and Pediatric Epidemiology Research Team Center for Epidemiology and Statistics Sorbonne Paris Cité DHU Risks in Pregnancy Paris Descartes University Paris France

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

International Center on Birth Defects International Clearinghouse for Birth Defects Surveillance and Research Rome Italy

Lombardy Congenital Anomalies Registry Cancer Registry Unit Fondazione IRCCS Istituto Nazionale tumori Milan Italy

Malformation Monitoring Centre Saxony Anhalt Medical Faculty Otto von Guericke University Magdeburg Germany

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

National Board of Health and Welfare and University of Lund Stockholm Sweden

National Network of Congenital Anomalies of Argentina National Ministry of Health Buenos Aires Argentina

Omni Net for Children International Charitable Fund Rivne Rivne Ukraine

RYVEMCE Department of Genetics Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

Slovak Teratologic Information Centre Slovak Medical University Bratislava Slovak Republic

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

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