Epidemiology of congenital diaphragmatic hernia, esophageal atresia, and gastroschisis in South Brazil
Keywords:Congenital Abnormalities, Congenital Diaphragmatic Hernias, Esophageal Atresia, Epidemiology, Gastroschisis
Background: Birth defects remain a major contributor to infant mortality and lifelong disabilities. The epidemiology of congenital abnormalities varies around the world and little information is available from Latin America.
Methods: This is an epidemiological, descriptive, cross-sectional study with data from the Department of Informatics of the Unified Health System (DATASUS) on Congenital diaphragmatic hernia (CDH), esophageal atresia (EA) and gastroschisis (GS) in South Brazil from 2009 to 2019.
Results: The incidence of CDH is 0.93 cases, while EA is 0.47 and GS is 2.87, all per 10,000 live births. There is an association between all the malformations and premature birth, cesarean delivery, low birth weight, and low Apgar scores. Both EA and GS are associated with maternal age, EA with older, and GS with younger mothers. While EA is associated with multiple pregnancies, GS is associated with fewer years of maternal formal education, single parenting, and a lower number of prenatal consultations. CDH is associated with the male sex and black ethnicity.
Conclusion: This large population-based study estimates the prevalence and demographic factors associated with CDH, EA, and GS, and extends the limited descriptive epidemiologic information available.
Mai C, Isenberg J, Canfield M, Meyer RE, Correa A, Alverson CJ, et al. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Res 2019; 111:1420–35.
Congenital disorders [Internet]. World Health Organization (WHO); [updated February 2023; cited March 2023]. Available from: https://www.who.int/news-room/fact-sheets/detail/birth-defects
Maia VO, Pavarino E, Guidio LT, Souza JPD, Ruano R, Schmidt AF, et al. Crossing birth and mortality data as a clue for prevalence of congenital diaphragmatic hernia in Sao Paulo State: A cross sectional study. Lancet Reg Heal - Am 2022; 14:100328.
Sitkin aN, Ozgediz D, Donkor P, Farmer DL. Congenital Anomalies in Low- and Middle-Income Countries: The Unborn Child of Global Surgery. World J Surg. 2015; 39:36–40.
Greenberg SLM, Ng-Kamstra JS, Ameh EA, Ozgediz DE, Poenaru D, Bickler SW. An investment in knowledge: Research in global pediatric surgery for the 21st century. Semin Pediatr Surg. 2016; 25:51–60.
Sistema de Informação sobre Nascidos Vivos (SINASC) [Internet]. Secretaria de Vigilância em Saúde; [updated October 2020; cited April 2022]. Available from: https://svs.aids.gov.br/daent/cgiae/sinasc/
Bagłaj M, Dorobisz U. Late-presenting congenital diaphragmatic hernia in children: a literature review. Pediatr Radiol. 2005; 35:478–88.
Zhu J, Wang Y, Miao L. Epidemiological studies on 321 children with congenital diaphragmatic hernia in China. Zhonghua Yu Fang Yi Xue Za Zhi. 1997; 31:266–8.
Kirby R. The prevalence of selected major birth defects in the United States. Semin Perinatol. 2017; 41:338–44.
Paoletti M, Raffler G, Gaffi MS, Antounians L, Lauriti G, Zani A. Prevalence and risk factors for congenital diaphragmatic hernia: A global view. J Pediatr Surg. 2020; 55:2297–2307.
Burgos CM, Ehrén H, Conner P, Frenckner B. Maternal risk factors and perinatal characteristics in congenital diaphragmatic hernia: A nationwide population-based study. Fetal Diagn Ther. 2019; 46:385–91.
Yang W, Carmichael SL, Harris JA, Shaw GM. Epidemiologic characteristics of congenital diaphragmatic hernia among 2.5 million California births, 1989–1997. Birth Defects Res Part A Clin Mol Teratol. 2006; 76:170–4.
Burgos CM, Frenckner B, Luco M, Harting MT, Lally PA, Lally KP. Prenatally diagnosed congenital diaphragmatic hernia: optimal mode of delivery? J Perinatol. 2017; 37:134–8.
Woodbury JM, Bojanić K, Grizelj R, Cavalcante AN, Donempudi VK, Weingarten TN, et al. Incidence of congenital diaphragmatic hernia in Olmsted County, Minnesota: a population-based study. J Matern Neonatal Med. 2019; 32:742–8.
Sfeir R, Michaud L, Salleron J, Gottrand F. Epidemiology of esophageal atresia. Dis Esophagus. 2013; 26:354–5.
Nassar N, Leoncini E, Amar E, Arteaga-Vázquez J, Bakker MK, Bower C, et al. Prevalence of esophageal atresia among 18 international birth defects surveillance programs. Birth Defects Res Part A Clin Mol Teratol. 2012; 94:893–9.
Demikova NS, Vydrych YV, Podolnaya MA, Lapina AS, Asanov AY. Prevalence and descriptive epidemiology of esophageal atresia in the Russian Federation. Birth Defects Res Part A Clin Mol Teratol. 2016; 106:854–9.
Forrester M, Merz R. Epidemiology of oesophageal atresia and tracheo-oesophageal fistula in Hawaii, 1986–2000. Pub Heal. 2005; 119:483–8.
Chahine A, Ricketts R. Esophageal atresia in infants with very low birth weight. Semin Pediatr Surg. 2000; 9:73–8.
Diretrizes Nacionais de Assistência ao Parto Normal [Internet]. Ministério da Saúde; [updated 2017; cited 2023]. Available from: https://bvsms.saude.gov.br/bvs/publicacoes/diretrizes_nacionais_assistencia_parto_normal.pdf
Weissbach T, Kassif E, Kushnir A, Shust-Barequet S, Leibovitch L, Eliasi E, et al. Esophageal atresia in twins compared to singletons: In utero manifestation and characteristics. Prenat Diagn. 2020; 40:1418–25.
Forster C, Zamiara P, Lapidus-Krol E, Chiang M, Scaini V, Haliburton B, et al. Outcomes of multi-gestational pregnancies affected by esophageal atresia – tracheoesophageal fistula. J Pediatr Surg. 2019; 54:2080–3.
Parolini F, Bulotta AL, Battaglia S, Alberti D. Preoperative management of children with esophageal atresia: current perspectives. Pediatr Heal Med Ther. 2017; 8:1–7.
Stadil T, Koivusalo A, Pakarinen M, Mikkelsen A, Emblem R, Svensson JF, et al. Surgical repair of long-gap esophageal atresia: A retrospective study comparing the management of long-gap esophageal atresia in the Nordic countries. J Pediatr Surg. 2019; 54:423–8.
Bugge M, Drachmann G, Kern P, Budtz–Jørgensen E, Eiberg H, Olsen B, et al. Abdominal wall defects in Greenland 1989-2015. Birth Defects Res. 2017; 109:836–42.
Calderon MG, Santos EFS, Abreu LC, Raimundo RD. Increasing prevalence, time trend and seasonality of gastroschisis in São Paulo state, Brazil, 2005–2016. Sci Rep. 2019; 9:14491.
Anderson JE, Galganski LA, Cheng Y, Stark RA, Saadai P, Stephenson JT, et al. Epidemiology of gastroschisis: A population-based study in California from 1995 to 2012. J Pediatr Surg. 2018; 53:2399–2403.
Mastroiacovo P, Lisi A, Castilla EE. The incidence of gastroschisis: Research urgently needs resources. BMJ. 2006; 332:423-4.
Egger PA, Souza MP, Riedo CO, Dutra AC, Silva MT, Pelloso SM, et al. Gastroschisis annual incidence, mortality, and trends in extreme Southern Brazil. J Pediatr. (Rio J) 2022; 98:69–75.
Allman R, Sousa J, Walker MW, Laughon MM, Spitzer AR, Clark RH. The epidemiology, prevalence and hospital outcomes of infants with gastroschisis. J Perinatol. 2016; 36:901–5.
Duncan J, Chotai P, Slagle A, Talati A, Huang E, Schenone M. Mode of delivery in pregnancies with gastroschisis according to delivery institution. J Matern Neonatal Med. 2019; 32:2957–60.
Abdel-Latif ME, Bolisetty S, Abeywardana S, Lui K. Mode of delivery and neonatal survival of infants with gastroschisis in Australia and New Zealand. J Pediatr Surg. 2008; 43:1685–90.
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