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Pediatric Surgery pp 1–13Cite as

The Epidemiology of Birth Defects

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Abstract

Birth defects are emerging as the leading cause of infant death worldwide. Their epidemiological investigation was prompted by the recognition of congenital rubella syndrome and of thalidomide-related phocomelia. Pediatric surgeons require good data on birth defects as a baseline for reporting their own outcomes. Hence, birth defects data are the foundation to quality control and improvement in neonatal surgery. However, good epidemiological study of birth defects is challenged practically by limited resources and dispersed populations and scientifically by prioritization of reductionist genetic investigations. Instead, it may be more helpful to see birth defects as complex systems problems, akin to surgical errors. As such, better understanding of birth defects may require surgeons equipped with “engineer style” training in statistics, modelling, and complex dynamic systems, rather than the current vogue for molecular biology approaches. Finally, birth defects are sensitive to widely different influences ranging from assisted reproduction to depleted uranium weapons. So for a broad swathe of population health issues, birth defects may provide an early warning signal – that can be heeded only with proper epidemiological measurement.

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References

  • Abrejo FG, Shaikh BT, Rizvi N. ‘And they kill me, only because I am a girl’... Review of sex-selective abortions in South Asia. Eur J Contracept Reprod Health Care. 2009;14:10–6.

    Article  PubMed  Google Scholar 

  • Ahmed N. How the World Health Organisation covered up Iraq’s nuclear nightmare. The Guardian / Observer Newspaper, Sunday 13th October 2013.

    Google Scholar 

  • Ahn AC, Tewari M, Poon C-S, Phillips RS. The limits of reductionism in medicine: could systems biology offer an alternative? PLoS Med. 2006;3(6):e208.

    Article  PubMed  PubMed Central  Google Scholar 

  • Auger N, Fraser WD, Sauve R, Bilodeau-Bertrand M, Kosatsky T. Risk of congenital heart defects after ambient heat exposure early in pregnancy. Environ Health Perspect. 2017;125(1):8–14.

    Google Scholar 

  • Ba’ath ME, Jesudason EC, Losty PD. How useful is the lung-to-head ratio in predicting outcome in the fetus with congenital diaphragmatic hernia? A systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2007;30:897–906.

    Article  PubMed  Google Scholar 

  • Barker DJ. The origins of the developmental origins theory. J Intern Med. 2007;261:412–7.

    Article  CAS  PubMed  Google Scholar 

  • Bernal AJ, Jirtle RL. Epigenomic disruption: the effects of early developmental exposures. Birth Defects Res Part A-Clin Mol Teratol. 2010;88:938–44.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bittles AH. Consanguineous marriages and congenital anomalies. Lancet. 2013;382(9901):1316–7.

    Article  PubMed  Google Scholar 

  • Botto LD, Flood T, Little J, Fluchel MN, Krikov S, et al. Cancer risk in children and adolescents with birth defects: a population-based cohort study. PLoS One. 2013;8(7):e69077.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Boyd PA, Armstrong B, Dolk H, Botting B, Pattenden S, et al. Congenital anomaly surveillance in England – ascertainment deficiencies in the national system. Br Med J. 2005;330(7481):27.

    Article  CAS  Google Scholar 

  • Busby C, Hamdan M, Ariabi E. Cancer, infant mortality and birth sex-ratio in Fallujah, Iraq 2005–2009. Int J Environ Res Public Health. 2010;7:2828–37.

    Article  PubMed  PubMed Central  Google Scholar 

  • Campbell MC, Tishkoff SA. The evolution of human genetic and phenotypic variation in Africa. Curr Biol. 2010;20:R166–73.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Carmona RH. The global challenges of birth defects and disabilities. Lancet. 2005;366:1142–4.

    Article  PubMed  Google Scholar 

  • Carozza SE, Langlois PH, Miller EA, Canfield M. Are children with birth defects at higher risk of childhood cancers? Am J Epidemiol. 2012;175:1217–24.

    Article  PubMed  Google Scholar 

  • Carter R, Mullassery D, See V, Theocharatos S, Pizer B, et al. Exploitation of chick embryo environments to reprogram MYCN-amplified neuroblastoma cells to a benign phenotype, lacking detectable MYCN expression. Oncogenesis. 2012;1:e24.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cho YH, Kim JK, Kim SH. A personalized recommender system based on web usage mining and decision tree induction. Expert Syst Appl. 2002;23:329–42.

    Article  Google Scholar 

  • Condon RJ, Bower C. Rubella vaccination and congenital-rubella syndrome in Western-Australia. Med J Aust. 1993;158:379–82.

    CAS  PubMed  Google Scholar 

  • Curry JI, McKinney P, Thornton JG, Stringer MD. The aetiology of gastroschisis. Br J Obstet Gynaecol. 2000;107:1339–46.

    Article  CAS  Google Scholar 

  • Cuschieri A. Surgical Innovation. 2003:10(3):141–148

    Google Scholar 

  • Davidz HL, Nightingale DJ. Enabling systems thinking to accelerate the development of senior systems engineers. Syst Eng. 2008;11:1–14.

    Article  Google Scholar 

  • Davies MJ, Moore VM, Willson KJ, Van Essen P, Priest K, et al. Reproductive technologies and the risk of birth defects. N Engl J Med. 2012;366:1803–13.

    Article  CAS  PubMed  Google Scholar 

  • DiMasi JA, Grabowski HG, Vernon J. R&D costs and returns by therapeutic category. Drug Inf J. 2004;38:211–23.

    Article  Google Scholar 

  • Dindo D, Hahnloser D, Clavien P-A. Quality assessment in surgery riding a lame horse. Ann Surg. 2010;251:766–71.

    Article  PubMed  Google Scholar 

  • Duke CW, Correa A, Romitti PA, Martin J, Kirby RS. Challenges and priorities for surveillance of stillbirths: a report on two workshops. Public Health Rep. 2009;124:652–9.

    Article  PubMed  PubMed Central  Google Scholar 

  • Elowitz MB, Levine AJ, Siggia ED, Swain PS. Stochastic gene expression in a single cell. Science. 2002;297(5584):1183–6.

    Article  CAS  PubMed  Google Scholar 

  • Fairbanks TJ, Kanard RC, Del Moral PM, Sala FG, De Langhe SP, et al. Colonic atresia without mesenteric vascular occlusion. The role of the fibroblast growth factor 10 signaling pathway. J Pediatr Surg. 2005;40:390–6.

    Article  PubMed  Google Scholar 

  • Feldkamp ML, Carey JC, Sadler TW. Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. Am J Med Genet A. 2007;143A:639–52.

    Article  PubMed  Google Scholar 

  • Forrester MB, Merz RD. Inclusion of early fetal deaths in a birth defects surveillance system. Teratology. 2001;64:S20–5.

    Article  PubMed  Google Scholar 

  • Gilbert SF, Sarkar S. Embracing complexity: organicism for the 21st century. Dev Dyn. 2000;219:1–9.

    Article  CAS  PubMed  Google Scholar 

  • Goldberger AL, Amaral LAN, Hausdorff JM, Ivanov PC, Peng CK, et al. Fractal dynamics in physiology: alterations with disease and aging. Proc Natl Acad Sci U S A. 2002;99:2466–72.

    Article  PubMed  PubMed Central  Google Scholar 

  • Grosfeld JL, Rescorla FJ. Duodenal atresia and stenosis – reassessment of treatment and outcome based on antenatal diagnosis, pathological variance, and long-term follow-up. World J Surg. 1993;17:301–9.

    Article  CAS  PubMed  Google Scholar 

  • Grosse SD, Rogowski WH, Ross LF, Cornel MC, Dondorp WJ, et al. Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics. 2010;13:106–15.

    Article  CAS  PubMed  Google Scholar 

  • Harrison MR, Bjordal RI, Langmark F, Knutrud O. Congenital diaphragmatic-hernia-hidden mortality. J Pediatr Surg. 1978;13:227–30.

    Article  CAS  PubMed  Google Scholar 

  • Harrison MR, Keller RL, Hawgood SB, Kitterman JA, Sandberg PL, et al. A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 2003;349:1916–24.

    Article  CAS  PubMed  Google Scholar 

  • Hattori S, Ieee. Spatio-temporal web sensors by social network analysis. 2012 Ieee/Acm International Conference on Advances in Social Networks Analysis and Mining (Asonam). 2012. p. 988–95.

    Google Scholar 

  • Hayden EC. The genome hacker. Nature. 2013;497(7448):172–4.

    Article  PubMed  Google Scholar 

  • Hindin R, Brugge D, Panikkar B. Teratogenicity of depleted uranium aerosols: a review from an epidemiological perspective. Environ Health: Glob Access Sci Source. 2005;4:17.

    Article  Google Scholar 

  • Homer N, Szelinger S, Redman M, Duggan D, Tembe W, et al. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet. 2008;4(8):e1000167.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hook EB, Czeizel AE. Can terathanasia explain the protective effect of folic-acid supplementation on birth defects? Lancet. 1997;350:513–5.

    Article  CAS  PubMed  Google Scholar 

  • Horan ML. Parental reaction to the birth of an infant with a defect: an attributional approach. ANS Adv Nurs Sci. 1982;5:57–68.

    Article  CAS  PubMed  Google Scholar 

  • Horton R. Surgical research or comic opera: questions, but few answers. Lancet. 1996;347:984–5.

    Article  CAS  PubMed  Google Scholar 

  • Horton R. What is the point of surgery? Lancet. 2010;376(9746):1025.

    Article  Google Scholar 

  • Islam AS, Miah SA. Transgenic plants: risks, concerns and effects on ecosystem and human health. Plant Tissue Cult Biotechnol. 2006;16(2):139–64.

    Google Scholar 

  • Jesudason EC. Challenging embryological theories on congenital diaphragmatic hernia: future therapeutic implications for paediatric surgery. Ann R Coll Surg Engl. 2002;84:252–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jesudason EC, Connell MG, Fernig DG, Lloyd DA, Losty PD. Early lung malformations in congenital diaphragmatic hernia. J Pediatr Surg. 2000;35:124–7; discussion 128.

    Google Scholar 

  • Katz SB. The ethic of expediency – classical rhetoric, technology, and the Holocaust. Coll Engl. 1992;54:255–75.

    Article  Google Scholar 

  • Keijzer R, Liu J, Deimling J, Tibboel D, Post M. Dual-hit hypothesis explains pulmonary hypoplasia in the nitrofen model of congenital diaphragmatic hernia. Am J Pathol. 2000;156:1299–306.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Khoury MJ. Epidemiology of birth defects. Epidemiol Rev. 1989;11:244–8.

    Article  CAS  PubMed  Google Scholar 

  • Kilby MD. The incidence of gastroschisis – is increasing in the UK, particularly among babies of young mothers. Br Med J. 2006;332:250–1.

    Article  Google Scholar 

  • Lippman A. Led (Astray) by genetic maps – the cartography of the human genome and health-care. Soc Sci Med. 1992;35:1469–76.

    Article  CAS  PubMed  Google Scholar 

  • Lumley J. Defining the problem: the epidemiology of preterm birth. Bjog Int J Obstet Gynaecol. 2003;110:3–7.

    Article  Google Scholar 

  • Marshall AC. Gulf war depleted uranium risks. J Expo Sci Environ Epidemiol. 2008;18:95–108.

    Article  CAS  PubMed  Google Scholar 

  • McCulloch P, Catchpole K. A three-dimensional model of error and safety in surgical health care microsystems. Rationale, development and initial testing. BMC Surg. 2011;11:23.

    Article  PubMed  PubMed Central  Google Scholar 

  • Monif GRG, Avery GB, Korones SB, Sever JL. Postmortem isolation of Rubella virus from 3 children with Rubella-syndrome defects. Lancet. 1965;1(7388):723–4.

    Article  CAS  PubMed  Google Scholar 

  • Mortell A, Montedonico S, Puri P. Animal models in pediatric surgery. Pediatr Surg Int. 2006;22:111–28.

    Article  CAS  PubMed  Google Scholar 

  • National Confidential Enquiry into Patient Outcome and Death (NCEPOD). Surgery in children: are we there yet? 2011. http://www.ncepod.org.uk/2011sic.html

  • Nelson CM, Gleghorn JP. Sculpting organs: mechanical regulation of tissue development. Annu Rev Biomed Eng. 2012;14(14):129–54.

    Article  CAS  PubMed  Google Scholar 

  • Nelson SM, Hajivassiliou CA, Haddock G, Cameron AD, Robertson L, et al. Rescue of the hypoplastic lung by prenatal cyclical strain. Am J Respir Crit Care Med. 2005;171:1395–402.

    Article  PubMed  Google Scholar 

  • Nichol PF, Reeder A, Botham R. Humans, mice, and mechanisms of intestinal atresias: a window into understanding early intestinal development. J Gastrointest Surg. 2011;15:694–700.

    Article  PubMed  Google Scholar 

  • Park JY, Park YW. Model-based concurrent systems design for safety. Concurr Eng-Res Appl. 2004;12:287–94.

    Article  Google Scholar 

  • Pasternak B, Svanstrom H, Molgaard-Nielsen D, Krause TG, Emborg HD, et al. Risk of adverse fetal outcomes following administration of a pandemic influenza A(H1N1) vaccine during pregnancy. JAMA-J Am Med Assoc. 2012;308:165–74.

    Article  CAS  Google Scholar 

  • Pedersen RN, Calzolari E, Husby S, Garne E, Grp EW. Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions. Arch Dis Child. 2012;97:227–32.

    Article  PubMed  Google Scholar 

  • Piedrahita JA. The role of imprinted genes in fetal growth abnormalities. Birth Defects Res Part A-Clin Mol Teratol. 2011;91:682–92.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Putnam CE. Reform and innovation: a repeating pattern during a half century of medical education in the USA. Med Educ. 2006;40(3):227–34.

    Article  PubMed  Google Scholar 

  • Reason J. A systems-approach to organizational error. Ergonomics. 1995;38:1708–21.

    Article  Google Scholar 

  • Reason J. Human error: models and management. Br Med J. 2000;320:768–70.

    Article  CAS  Google Scholar 

  • Rylander C, Odland JO, Sandanger TM. Climate change and environmental impacts on maternal and newborn health with focus on Arctic populations. Glob Health Action. 2011;4:8452.

    Article  Google Scholar 

  • Sheridan E, Wright J, Small N, Corry PC, Oddie S, et al. Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the born in Bradford study. Lancet. 2013;382:1350–9.

    Article  PubMed  Google Scholar 

  • Slaughter LM. Your genes and privacy. Science. 2007;316(5826):797.

    Article  CAS  PubMed  Google Scholar 

  • Spitz L, Kiely EM, Morecroft JA, Drake DP. Oesophageal atresia: at-risk groups for the 1990s. J Pediatr Surg. 1994;29:723–5.

    Article  CAS  PubMed  Google Scholar 

  • Stege G, Fenton A, Jaffray B. Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. Pediatrics. 2003;112:532–5.

    Article  PubMed  Google Scholar 

  • Stein LD. The case for cloud computing in genome informatics. Genome Biol. 2010;11:207.

    Article  PubMed  PubMed Central  Google Scholar 

  • Stockley L, Lund V. Use of folic acid supplements, particularly by low-income and young women: a series of systematic reviews to inform public health policy in the UK. Public Health Nutr. 2008;11:807–21.

    Article  PubMed  Google Scholar 

  • Taussig HB. Thalidomide and phocomelia. Pediatrics. 1962;30:654–9.

    CAS  PubMed  Google Scholar 

  • Thompson SM, Connell MG, Fernig DG, Ten Dam GB, van Kuppevelt TH, et al. Novel ‘phage display antibodies identify distinct heparan sulfate domains in developing mammalian lung. Pediatr Surg Int. 2007;23:411–7.

    Article  CAS  PubMed  Google Scholar 

  • Thompson SM, Fernig DG, Jesudason EC, Losty PD, van de Westerlo EMA, et al. Heparan sulfate phage display antibodies identify distinct epitopes with complex binding characteristics insights into protein binding specificities. J Biol Chem. 2009;284:35621–31.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Thompson SM, Jesudason EC, Turnbull JE, Fernig DG. Heparan sulfate in lung morphogenesis: the elephant in the room. Birth Defects Res Part C-Embryo Today-Rev. 2010;90(1):32–44.

    Article  CAS  Google Scholar 

  • Thompson SM, Connell MG, van Kuppevelt TH, Xu R, Turnbull JE, et al. Structure and epitope distribution of heparan sulfate is disrupted in experimental lung hypoplasia: a glycobiological epigenetic cause for malformation? BMC Dev Biol. 2011;11:38.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tinker SC, Reefhuis J, Dellinger AM, Jamieson DJ, Natl Birth Defects Prevention S. Maternal injuries during the periconceptional period and the risk of birth defects, National Birth Defects Prevention Study, 1997–2005. Paediatr Perinat Epidemiol. 2011;25:487–96.

    Article  PubMed  Google Scholar 

  • Turnbull J, Field RA. Emerging glycomics technologies. Nat Chem Biol. 2007;3(2):74–7.

    Article  CAS  PubMed  Google Scholar 

  • Van Zutphen AR, Lin S, Fletcher BA, Hwang SA. A population-based case-control study of extreme summer temperature and birth defects. Environ Health Perspect. 2012;120(10):1443–9.

    Article  PubMed  PubMed Central  Google Scholar 

  • de Vries J, Bull SJ, Doumbo O, Ibrahim M, Mercereau-Puijalon O, et al. Ethical issues in human genomics research in developing countries. BMC Med Ethics. 2011;12:5.

    Article  PubMed  PubMed Central  Google Scholar 

  • Waddington CH. Canalization of development and the inheritance of acquired characters. Nature. 1942;150:563–5.

    Article  Google Scholar 

  • Wald N. Prevention of neural-tube defects-results of the medical-research-council vitamin study. Lancet. 1991;338:131–7.

    Article  Google Scholar 

  • Wjst M. Caught you: threats to confidentiality due to the public release of large-scale genetic data sets. BMC Med Ethics. 2010;11:21.

    Article  PubMed  PubMed Central  Google Scholar 

  • Wright R. The evolution of God: the origins of our beliefs: Abacus. 2010.

    Google Scholar 

  • Yu HYR, Ho SC, So KFE, Lo YL. Short communication: the psychological burden experienced by Hong Kong midlife women during the SARS epidemic. Stress Health. 2005;21:177–84.

    Article  Google Scholar 

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  1. NHS Lothian, Edinburgh, UK

    Edwin C. Jesudason

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  1. Edwin C. Jesudason
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Correspondence to Edwin C. Jesudason .

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  1. Our Lady’s Children's Hospital, National Children’s Research Centre, Dublin, Ireland

    Prem Puri

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Jesudason, E.C. (2016). The Epidemiology of Birth Defects. In: Puri, P. (eds) Pediatric Surgery. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38482-0_2-1

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  • DOI: https://doi.org/10.1007/978-3-642-38482-0_2-1

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