Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

Jane C Bell; Gareth Baynam; Jorieke E H Bergman; Eva Bermejo-Sánchez; Lorenzo D Botto; Mark A Canfield; Saeed Dastgiri; Miriam Gatt; Boris Groisman; Paula Hurtado-Villa; Karin Kallen; Babak Khoshnood; Victoria Konrad; Danielle Landau; Jorge S Lopez-Camelo; Laura Martinez; Margery Morgan; Osvaldo M Mutchinick; Amy E Nance; Wendy Nembhard; Anna Pierini; Anke Rissmann; Xiaoyi Shan; Antonin Sipek; Elena Szabova; Giovanna Tagliabue; Lyubov S Yevtushok; Ignacio Zarante; Natasha Nassar

doi:10.1002/bdr2.1891

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

Birth Defects Res. 2021 Jul 15;113(12):945-957. doi: 10.1002/bdr2.1891. Epub 2021 Mar 18.

Authors

Jane C Bell¹, Gareth Baynam^{2

3}, Jorieke E H Bergman⁴, Eva Bermejo-Sánchez⁵, Lorenzo D Botto^{6

7}, Mark A Canfield⁸, Saeed Dastgiri⁹, Miriam Gatt¹⁰, Boris Groisman¹¹, Paula Hurtado-Villa¹², Karin Kallen¹³, Babak Khoshnood¹⁴, Victoria Konrad^{15

16}, Danielle Landau¹⁷, Jorge S Lopez-Camelo¹⁸, Laura Martinez¹⁹, Margery Morgan²⁰, Osvaldo M Mutchinick²¹, Amy E Nance²², Wendy Nembhard²³, Anna Pierini²⁴, Anke Rissmann²⁵, Xiaoyi Shan²⁶, Antonin Sipek²⁷, Elena Szabova²⁸, Giovanna Tagliabue²⁹, Lyubov S Yevtushok^{30

31}, Ignacio Zarante³², Natasha Nassar¹

Affiliations

¹ Child Population and Translational Health Research, Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, Australia.
² The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Subiaco, Australia.
³ School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
⁴ University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
⁵ ECEMC, Research Unit on Congenital Anomalies, Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.
⁶ International Center on Birth Defects (ICBD) of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
⁷ Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
⁸ Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
⁹ Tabriz Health Services Management Research Center, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
¹⁰ Malta Congenital Anomalies Registry, Directorate for Health Information and Research, Guardamangia, Malta.
¹¹ National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health, Buenos Aires, Argentina.
¹² Pontificia Universidad Javeriana Cali, Centro Médico Imbanaco, Cali, Colombia.
¹³ Swedish National Board of Health and Welfare and Institution of Clinical Sciences, Lund, University of Lund, Stockholm, Sweden.
¹⁴ Université de Paris, Center of Research in Epidemiology and Statistics/CRESS/Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France.
¹⁵ National Center on Birth Defects and Developmental Disabilities, US Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
¹⁶ National Center on Birth Defects and Developmental Disabilities, Carter Consulting, Incorporated, Atlanta, Georgia, USA.
¹⁷ Department of Obstetrics and Gynecology, Soroka University Medical Center, Beersheva, Israel.
¹⁸ ECLAMC, Latin American Collaborative Study of Congenital Malformations, Buenos Aires, Argentina.
¹⁹ Registro DAN (Registro de Defectos al Nacimiento), Departamento de Genética, Hospital Universitario Dr. José E. González. Universidad Autónoma de Nuevo León, Monterrey, Mexico.
²⁰ CARIS (Congenital Anomaly Register & Information Services), Public Health Wales, Singleton Hospital, Swansea, UK.
²¹ RYVMCE, Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
²² Utah Department of Health, Bureau of Children with Special Health Care Needs, Utah Birth Defect Network, Salt Lake City, Utah, USA.
²³ Department of Epidemiology and the Arkansas Reproductive Health Monitoring System, University of Arkansas for Medical Sciences, Fay W Boozman College of Medicine, Little Rock, Arkansas, USA.
²⁴ Institute of Clinical Physiology, National Research Council/Fondazione Toscana Gabriele Monasterio, Pisa, Italy.
²⁵ Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
²⁶ Arkansas Children's Hospital, Arkansas Children's Research Institute, Little Rock, Arkansas, USA.
²⁷ Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic.
²⁸ Slovak Medical University in Bratislava, Faculty of Public Health, Bratislava, Slovak Republic.
²⁹ Cancer Registry Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Lombardy, Italy.
³⁰ OMNI-Net Ukraine Birth Defects Program, Rivne, Ukraine.
³¹ Rivne Regional Medical Diagnostic Center, Rivne, Ukraine.
³² Instituto de Genética Humana, Pontificia Universidad Javeriana Bogotá, Bogota, Colombia.

Abstract

Background: Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions.

Methods: We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. We calculated survival as the proportion of liveborn infants alive at 1 month, 1- and 5-years, among all infants with EA, those with isolated EA, those with EA and additional anomalies or EA and a chromosomal anomaly or genetic syndrome. We also investigated trends in survival over the decades, 1980s-2010s.

Results: We included 6,466 liveborn infants with EA. Survival was 89.4% (95% CI 88.1-90.5) at 1-month, 84.5% (95% CI 83.0-85.9) at 1-year and 82.7% (95% CI 81.2-84.2) at 5-years. One-month survival for infants with isolated EA (97.1%) was higher than for infants with additional anomalies (89.7%) or infants with chromosomal or genetic syndrome diagnoses (57.3%) with little change at 1- and 5-years. Survival at 1 month improved from the 1980s to the 2010s, by 6.5% for infants with isolated EA and by 21.5% for infants with EA and additional anomalies.

Conclusions: Almost all infants with isolated EA survived to 5 years. Mortality was higher for infants with EA and an additional anomaly, including chromosomal or genetic syndromes. Survival improved from the 1980s, particularly for those with additional anomalies.

Keywords: congenital anomalies; esophageal atresia; infant; mortality; survival.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Chromosome Aberrations
Chromosome Disorders*
Esophageal Atresia* / epidemiology
Female
Humans
Infant
Live Birth
Parturition
Pregnancy

Abstract

Publication types

MeSH terms

Grants and funding