Philip J Lupo1, Jennifer L Isenburg2, Jason L Salemi3, Cara T Mai2, Rebecca F Liberman4, Mark A Canfield5, Glenn Copeland6, Sarah Haight2,7, Sanjiv Harpavat8, Adrienne T Hoyt5, Cynthia A Moore2, Wendy N Nembhard9, Hoang N Nguyen10, Rachel E Rutkowski11, Amy Steele12, C J Alverson2, Erin B Stallings2,13, Russell S Kirby11. 1. Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas. 2. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia. 3. Department of Family and Community Medicine, Baylor College of Medicine, Houston, Texas. 4. Massachusetts Department of Public Health, Center for Birth Defects Research and Prevention, Boston, Massachusetts. 5. Texas Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Austin, Texas. 6. Division for Vital Records and Health Statistics, Michigan Department of Health and Human Services, Michigan Birth Defects Registry, Lansing, Michigan. 7. Oak Ridge Institute for Science and Education, Oak Ridge, Tennessee. 8. Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, Texas. 9. Section of Birth Defects Research, Department of Pediatrics, Arkansas Reproductive Health Monitoring System, Arkansas Children's Research Institute and University of Arkansas for Medical Sciences, Little Rock, Arkansas. 10. Department of Pediatrics, Rush Medical College, Chicago, Illinois. 11. Department of Community and Family Health, College of Public Health, University of South Florida, Tampa, Florida. 12. Division of Family Health and Preparedness, Utah Department of Health, Utah Birth Defect Network, Salt Lake City, Utah. 13. Carter Consulting, Incorporated, Atlanta, Georgia.
Abstract
BACKGROUND: Gastrointestinal defects are a phenotypically and etiologically diverse group of malformations. Despite their combined prevalence and clinical impact, little is known about the epidemiology of these birth defects. Therefore, the objective of the 2017 National Birth Defects Prevention Network (NBDPN) data brief was to better describe the occurrence of gastrointestinal defects. METHODS: As part of the 2017 NBDPN annual report, 28 state programs provided additional data on gastrointestinal defects for the period 2010-2014. Counts and prevalence estimates (per 10,000 live births) were calculated overall and by demographic characteristics for (1) biliary atresia; (2) esophageal atresia/tracheoesophageal fistula; (3) rectal and large intestinal atresia/stenosis; and (4) small intestinal atresia/stenosis. Additionally, we explored the frequency of these malformations co-occurring with other structural birth defects. RESULTS: Pooling data from all participating registries, the prevalence estimates were: 0.7 per 10,000 live births for biliary atresia (713 cases); 2.3 per 10,000 live births for esophageal atresia/tracheoesophageal fistula (2,472 cases); 4.2 per 10,000 live births for rectal and large intestinal atresia/stenosis (4,334 cases); and 3.4 per 10,000 live births for small intestinal atresia/stenosis (3,388 cases). Findings related to co-occurring birth defects were especially notable for esophageal atresia/tracheoesophageal fistula, rectal and large intestinal atresia/stenosis, and small intestinal atresia/stenosis, where the median percentage of non-isolated cases was 53.9%, 45.5%, and 50.6%, respectively. CONCLUSIONS: These population-based prevalence estimates confirm some previous studies, and provide a foundation for future epidemiologic studies of gastrointestinal defects. Exploring the genetic and environmental determinants of these malformations may yield new clues into their etiologies.
BACKGROUND:Gastrointestinal defects are a phenotypically and etiologically diverse group of malformations. Despite their combined prevalence and clinical impact, little is known about the epidemiology of these birth defects. Therefore, the objective of the 2017 National Birth Defects Prevention Network (NBDPN) data brief was to better describe the occurrence of gastrointestinal defects. METHODS: As part of the 2017 NBDPN annual report, 28 state programs provided additional data on gastrointestinal defects for the period 2010-2014. Counts and prevalence estimates (per 10,000 live births) were calculated overall and by demographic characteristics for (1) biliary atresia; (2) esophageal atresia/tracheoesophageal fistula; (3) rectal and large intestinal atresia/stenosis; and (4) small intestinal atresia/stenosis. Additionally, we explored the frequency of these malformations co-occurring with other structural birth defects. RESULTS: Pooling data from all participating registries, the prevalence estimates were: 0.7 per 10,000 live births for biliary atresia (713 cases); 2.3 per 10,000 live births for esophageal atresia/tracheoesophageal fistula (2,472 cases); 4.2 per 10,000 live births for rectal and large intestinal atresia/stenosis (4,334 cases); and 3.4 per 10,000 live births for small intestinal atresia/stenosis (3,388 cases). Findings related to co-occurring birth defects were especially notable for esophageal atresia/tracheoesophageal fistula, rectal and large intestinal atresia/stenosis, and small intestinal atresia/stenosis, where the median percentage of non-isolated cases was 53.9%, 45.5%, and 50.6%, respectively. CONCLUSIONS: These population-based prevalence estimates confirm some previous studies, and provide a foundation for future epidemiologic studies of gastrointestinal defects. Exploring the genetic and environmental determinants of these malformations may yield new clues into their etiologies.
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