Abstract
Background
Congenital anomalies are a leading cause of morbidity and mortality worldwide. We aimed to review the common surgically correctable congenital anomalies with recent updates on the global disease burden and identify the factors affecting morbidity and mortality.
Method
A literature review was done to assess the burden of surgical congenital anomalies with emphasis on those that present within the first 8000Â days of life. The various patterns of diseases were analyzed in both low- and middle-income countries (LMIC) and high-income countries (HIC).
Results
Surgical problems such as digestive congenital anomalies, congenital heart disease and neural tube defects are now seen more frequently. The burden of disease weighs more heavily on LMIC. Cleft lip and palate has gained attention and appropriate treatment within many countries, and its care has been strengthened by global surgical partnerships. Antenatal scans and timely diagnosis are important factors affecting morbidity and mortality. The frequency of pregnancy termination following prenatal diagnosis of a congenital anomaly is lower in many LMIC than in HIC.
Conclusion
Congenital heart disease and neural tube defects are the most common congenital surgical diseases; however, easily treatable gastrointestinal anomalies are underdiagnosed due to the invisible nature of the condition. Current healthcare systems in most LMICs are still unprepared to tackle the burden of disease caused by congenital anomalies. Increased investment in surgical services is needed.
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References
Wright NJ (2019) Management and outcomes of gastrointestinal congenital anomalies in low-, middle- and high-income countries: protocol for a multicentre, international, prospective cohort study. BMJ Open 9:e030452
Congenital anomalies. https://www.who.int/news-room/fact-sheets/detail/congenital-anomalies. Accessed 18 Aug 2021
Congenital anomalies. https://www.who.int/westernpacific/health-topics/congenital-anomalies. Accessed 23 Aug 2021
Modell B, Darlison MW, Malherbe H et al (2018) Congenital disorders: epidemiological methods for answering calls for action. J Community Genet 9:335–340
The World Bank (2019) Population ages 0–14 (% of total population). World Bank Group. https://data.worldbank.org/indicator/SP.POP.0014.TO.ZS
Wright NJ, Leather AJM, Ade-Ajayi N et al (2021) Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study. Lancet 398(10297):325–339
Sitkin NA, Ozgediz D, Donkor P, Farmer DL (2015) Congenital anomalies in low- and middle-income countries: the unborn child of global surgery. World J Surg 39:36–40. https://doi.org/10.1007/s00268-014-2714-9
Institute of Health Metrics and Evaluation. GBD compare. Available at: https://vizhub.healthdata.org/gbd-compare/. Accessed 11 May 2023
US Department of Health and Human Services, Food and Drug Administration (2003) Guidance for industry and FDA staff: pediatric expertise for advisory panels. US Department of Health and Human Services, Food and Drug Administration, Center for Devices and Radiological Health, Rockville. Available at: www.fda.gov/downloads/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/ucm082188.pdf. Accessed 24 March 2023
Hagan JF Jr, Shaw JS, Duncan P (eds) (2008) Bright futures: guidelines for the health supervision of infants, children and adolescents
Bundy DAP, de Silva N, Horton S, Patton GC, Schultz L, Jamison DT, Disease Control Priorities-3 Child and Adolescent Health and Development Authors Group (2018) Investment in child and adolescent health and development: key messages from disease control priorities, 3rd edition. Lancet 391(10121):687–699. https://doi.org/10.1016/S0140-6736(17)32417-0
Lo A, Polšek D, Sidhu S (2014) Estimating the burden of neural tube defects in low- and middle-income countries. J Glob Health 4:010402
Livingston MH, DCruz J, Pemberton J, Ozgediz D, Poenaru D (2015) Mortality of pediatric surgical conditions in low and middle income countries in Africa. J Pediatr Surg 50:760–764
Congenital Disorders Expert Group, Blencowe H, Moorthie S, Darlison MW, Gibbons S, Modell B (2018) Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders. J Community Genet 9:363–376
Higashi H, Barendregt JJ, Kassebaum NJ, Weiser TG, Bickler SW, Vos T (2015) The burden of selected congenital anomalies amenable to surgery in low and middle-income regions: cleft lip and palate, congenital heart anomalies and neural tube defects. Arch Dis Child 100:233–238
Kancherla V, Koning J, Biluts H et al (2021) Projected impact of mandatory food fortification with folic acid on neurosurgical capacity needed for treating spina bifida in ETHIOPIA. Birth Defects Res 113:393–398
Atlaw D, Tekalegn Y, Sahiledengle B et al (2021) Magnitude and determinants of neural tube defect in Africa: a systematic review and meta-analysis. BMC Pregnancy Childbirth 21:426
Wadman M (2019) Beset by neural tube defects, Ethiopia may fortify salt. Science 366(6470):1177–1178
Estevez-Ordonez D, Davis MC, Hopson B et al (2018) Reducing inequities in preventable neural tube defects: the critical and underutilized role of neurosurgical advocacy for folate fortification. Neurosurg Focus 45:E20
Shaw GM, Todoroff K, Schaffer DM, Selvin S (1999) Periconceptional nutrient intake and risk for neural tube defect-affected pregnancies. Epidemiology 10(6):711–716
Czeizel AE, Dudás I (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327(26):1832–1835. https://doi.org/10.1056/NEJM199212243272602
MRC Vitamin Study Research Group (1991) Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338(8760):131–137
Schorah CJ, Wild J, Hartley R, Sheppard S, Smithells RW (1983) The effect of periconceptional supplementation on blood vitamin concentrations in women at recurrence risk for neural tube defect. Br J Nutr 49(2):203–211. https://doi.org/10.1079/bjn19830026
Velie EM, Block G, Shaw GM, Samuels SJ, Schaffer DM, Kulldorff M (1999) Maternal supplemental and dietary zinc intake and the occurrence of neural tube defects in California. Am J Epidemiol 150(6):605–616. https://doi.org/10.1093/oxfordjournals.aje.a010059
Shaw GM, Velie EM, Schaffer DM (1997) Is dietary intake of methionine associated with a reduction in risk for neural tube defect-affected pregnancies? Teratology 56(5):295–299. https://doi.org/10.1002/(SICI)1096-9926(199711)56:5%3c295::AID-TERA1%3e3.0.CO;2-X
Adzick NS, Sutton LN, Crombleholme TM, Flake AW (1998) Successful fetal surgery for spina bifida. Lancet 352(9141):1675–1676. https://doi.org/10.1016/S0140-6736(98)00070-1
Adzick NS (2013) Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg 22(1):10–17. https://doi.org/10.1053/j.sempedsurg.2012.10.003
Werner EF, Han CS, Burd I, Lipkind HS, Copel JA, Bahtiyar MO, Thung SF (2012) Evaluating the cost-effectiveness of prenatal surgery for myelomeningocele: a decision analysis. Ultrasound Obstet Gynecol 40(2):158–164. https://doi.org/10.1002/uog.11176. (9)
Elbabaa SK, Gildehaus AM, Pierson MJ, Albers JA, Vlastos EJ (2017) First 60 fetal in-utero myelomeningocele repairs at Saint Louis Fetal Care Institute in the post-MOMS trial era: hydrocephalus treatment outcomes (endoscopic third ventriculostomy versus ventriculo-peritoneal shunt). Childs Nerv Syst 33(7):1157–1168. https://doi.org/10.1007/s00381-017-3428-8
Moldenhauer JS, Flake AW (2019) Open fetal surgery for neural tube defects. Best Pract Res Clin Obstet Gynaecol 58:121–132. https://doi.org/10.1016/j.bpobgyn.2019.03.004
Radic JAE, Illes J, McDonald PJ (2019) Fetal repair of open neural tube defects: ethical, legal, and social issues. Camb Q Healthc Ethics 28(3):476–487. https://doi.org/10.1017/S0963180119000409
Danzer E, Adzick NS (2011) Fetal surgery for myelomeningocele: patient selection, perioperative management and outcomes. Fetal Diagn Ther 30(3):163–173. https://doi.org/10.1159/000329785
Danzer E, Johnson MP (2014) Fetal surgery for neural tube defects. Semin Fetal Neonatal Med 19(1):2–8. https://doi.org/10.1016/j.siny.2013.09.004
Adzick NS, Thom EA, Spong CY, Brock JW 3rd, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D’Alton ME, Farmer DL, MOMS Investigators (2011) A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med 364(11):993–1004. https://doi.org/10.1056/NEJMoa1014379
Muir RT, Wang S, Warf BC (2016) Global surgery for pediatric hydrocephalus in the developing world: a review of the history, challenges, and future directions. Neurosurg Focus 41:E11
Afolabi AO, Shokunbi MT (2012) Socio-economic implications of the surgical treatment of hydrocephalus. Niger J Pediatr 42:55–58
Wu VK, Poenaru D, Poley MJ (2013) Burden of surgical congenital anomalies in Kenya: a population-based study. J Trop Pediatr 59:195–202
Warf BC (2010) Pediatric hydrocephalus in east Africa: Prevalence, causes, treatments, and strategies for the future. World Neurosurg 73:296–300
Mainthia R, Tye GW, Shapiro J, Doppenberg EMR, Ward JD (2009) A model for neurosurgical humanitarian aid based on 12 years of medical trips to South and Central America: clinical article. J Neurosurg Pediatr 4:4–9
Sitkin NA, Farmer DL (2016) Congenital anomalies in the context of global surgery. Semin Pediatr Surg 25:15–18
Awori J, Strahle J, Okechi H, Davis MC (2016) Implications of patient-borne costs associated with pediatric neurosurgical care in eastern Africa. J Neurosurg Pediatr 18:116–124
Sale D, Amos HD (2021) Assessing the Cost Burden of Pediatric Neurosurgery in Kaduna, Nigeria. World Neurosurg 152:e708–e712
Auslander A, McKean-Cowdin R, Brindopke F et al (2020) The role of smoke from cooking indoors over an open flame and parental smoking on the risk of cleft lip and palate: a case- control study in 7 low-resource countries. J Glob Health 10:020410
Kruppa K, Krüger E, Vorster C, van der Linde J (2021) Cleft lip and/or palate and associated risks in lower-middle-income countries: a systematic review. Cleft Palate Craniofac J 59:568–576
Meara JG, Leather AJM, Hagander L et al (2015) Global surgery 2030: evidence and solutions for achieving health, welfare, and economic development. Lancet 386:569–624
Corlew DS (2010) Estimation of impact of surgical disease through economic modeling of cleft lip and palate care. World J Surg 34:391–396. https://doi.org/10.1007/s00268-009-0198-9
Hughes C, Campbell J, Mukhopadhyay S et al (2017) Remote digital preoperative assessments for cleft lip and palate may improve clinical and economic impact in global plastic surgery. Cleft Palate Craniofac J 54:535–539
Wester JR, Weissman JP, Reddy NK, Chwa ES, Gosain AK (2021) The current state of cleft care in sub-Saharan Africa: a narrative review. Cleft Palate Craniofac J 59:1131–1138
Van der Linde D, Konings EEM, Slager MA et al (2011) Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 58:2241–2247
Zimmerman MS, Smith AGC, Sable CA et al (2020) Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the global burden of disease study. Lancet Child Adolesc Health 4:185–200
Tchervenkov CI, Jacobs JP, Bernier PL et al (2008) The improvement of care for pediatric and congenital cardiac disease across the World: a challenge for the World Society for Pediatric and Congenital Heart Surgery. Cardiol Young 18(Suppl 2):63–69
Hoffman JIE (2013) The global burden of congenital heart disease: review article. Cardiovasc J Afr 24:141–145
Bernier PL, Stefanescu A, Samoukovic G, Tchervenkov CI (2010) The challenge of congenital heart disease worldwide: epidemiologic and demographic facts. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 13:26–34
Toobaie A, Yousef Y, Balvardi S et al (2019) Incidence and prevalence of congenital anomalies in low- and middle-income countries: a systematic review. J Pediatr Surg 54:1089–1093
Cheung M, Kakembo N, Rizgar N et al (2019) Epidemiology and mortality of pediatric surgical conditions: insights from a tertiary center in Uganda. Pediatr Surg Int 35:1279–1289
Banu T, Chowdhury TK, Das SK, Chowdhury MZ, Hoque MM, Rahman MAM (2014) Birth defects: a hospital based study in Chittagong, Bangladesh. Chattagram Maa-O-Shishu Hosp Med Coll J 13(3):5–10. https://doi.org/10.3329/cmoshmcj.v13i3.20994
Ameh EA, Chirdan LB (2000) Neonatal intestinal obstruction in Zaria, Nigeria. East Afr Med J 77:510–513
Ogundoyin OO, Afolabi AO, Ogunlana DI, Lawal TA, Yifieyeh AC (2009) Pattern and outcome of childhood intestinal obstruction at a tertiary hospital in Nigeria. Afr Health Sci 9:170–173
Lawal TA (2019) Overview of anorectal malformations in Africa. Front Surg 6:7
Correa C, Mallarino C, Peña R, Rincón LC, Gracia G, Zarante I (2014) Congenital malformations of pediatric surgical interest: Prevalence, risk factors, and prenatal diagnosis between 2005 and 2012 in the capital city of a developing country. Bogotá, Colombia. J Pediatr Surg 49:1099–1103
Theron A, Numanoglu A (2017) Birth prevalence of anorectal malformations for the Western Cape Province, South Africa, 2005 to 2012. Eur J Pediatr Surg 27:449–454
Chowdhury TK, Kabir SMH, Alam MA et al (2020) Prevalence and pattern of birth defects among pediatric surgical patients: a 12-year analysis in a tertiary-level government hospital in Bangladesh. Asian J Med Health 4:84–93
Karim A, Akter M, Aziz TT et al (2018) Epidemiological characteristics of Hirschsprung’s disease (HSCR): results of a case series of fifty patients from Bangladesh. J Pediatr Surg 53:1955–1959
Harmer L, Rhatigan J (2014) Clubfoot care in low-income and middle-income countries: from clinical innovation to a public health program. World J Surg 38:839–848. https://doi.org/10.1007/s00268-013-2318-9
Saltzman HM (2009) Foot focus: international initiative to eradicate clubfeet using the Ponseti method. Foot Ankle Int 30:468–471
Van Batavia JP, Shukla AR, Joshi RS, Reddy PP (2018) Pediatric urology and global health. Urol Clin N Am 45:623–631
Murray CJL, Vos T, Lozano R et al (2012) Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990–2010: a systematic analysis for the global burden of disease study 2010. Lancet 380(9859):2197–2223
Centers for Disease Control and Prevention (CDC) (1995) Economic costs of birth defects and cerebral palsy–United States, 1992. MMWR Morb Mortal Wkly Rep 44:694–699
Poenaru D, Pemberton J, Frankfurter C, Cameron BH (2015) Quantifying the disability from congenital anomalies averted through pediatric surgery: a cross-sectional comparison of a pediatric surgical unit in Kenya and Canada. World J Surg 39:2198–2206. https://doi.org/10.1007/s00268-015-3103-8
Badrinath R, Kakembo N, Kisa P, Langer M, Ozgediz D, Sekabira J (2014) Outcomes and unmet need for neonatal surgery in a resource-limited environment: estimates of global health disparities from Kampala, Uganda. J Pediatr Surg 49:1825–1830
Turner EL, Nielsen KR, Jamal SM, von Saint André-von Arnim A, Musa NL (2016) A review of pediatric critical care in resource-limited settings: a look at past, present, and future directions. Front Pediatr 18(4):5
Butler EK, Tran TM, Nagarajan N et al (2017) Epidemiology of pediatric surgical needs in low-income countries. PLoS ONE 12:e0170968
Warf BC, Alkire BC, Bhai S et al (2011) Costs and benefits of neurosurgical intervention for infant hydrocephalus in sub-Saharan Africa. J Neurosurg Pediatr 8:509–521
Grosse S, Peterson C, Abouk R, Glidewell J, Oster M (2017) Cost and cost-effectiveness assessments of newborn screening for critical congenital heart disease using pulse oximetry: a review. Int J Neonatal Screen 3:34
Wright NJ, Anderson JE, Ozgediz D, Farmer DL, Banu T (2018) Addressing paediatric surgical care on world birth defects day. Lancet 391(10125):1019. https://doi.org/10.1016/S0140-6736(18)30501-4
Goodman LF, St-Louis E, Yousef Y, Cheung M, Ure B, Ozgediz D, Ameh EA, Bickler S, Poenaru D, Oldham K, Farmer D, Lakhoo K, GICS Collaborators (2018) The global initiative for children’s surgery: optimal resources for improving care. Eur J Pediatr Surg 28(1):51–59. https://doi.org/10.1055/s-0037-1604399
Farmer D, Sitkin N, Lofberg K et al (2015) Surgical interventions for congenital anomalies. In: Debas HT, Donkor P, Gawande A et al (eds) Essential surgery: disease control priorities, vol 1, 3rd edn. The International Bank for Reconstruction and Development/The World Bank, Washington
Baird PA, Anderson TW, Newcombe HB, Lowry RB (1988) Genetic disorders in children and young adults: a population study. Am J Hum Genet 42(5):677–693
Kallen B (1988) Epidemiology of human reproduction. CRC Press, Boca Raton
Garne E, Dolk H, Loane M, Wellesley D, Barisic I, Calzolari E, Densem J, EUROCAT Working Group (2011) Paper 5: surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases. Birth Defects Res Part A Clin Mol Teratol 91(Suppl 1):S44–S50. https://doi.org/10.1002/bdra.20777
Calzolari E, Barisic I, Loane M, Morris J, Wellesley D, Dolk H, Addor MC, Arriola L, Bianchi F, Neville AJ, Budd JL, Klungsoyr K, Khoshnood B, McDonnell B, Nelen V, Queisser-Luft A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, de Walle H, Garne E (2014) Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study. Birth Defects Res Part A Clin Mol Teratol 100(4):270–276. https://doi.org/10.1002/bdra.23240
Moorthie S, Blencowe H, Darlison MW, Lawn J, Morris JK, Modell B, Anu A, Bittles AH, Blencowe H, Christianson A, Cousens S, Darlison MW, Gibbons S, Hamamy H, Khoshnood B, Howson CP, Lawn J, Mastroiacovo P, Modell B, Moorthie S, Morris JK, Mossey PA, Neville AJ, Petrou M, Yunnis KA (2018) Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide. J Community Genet 9(4):387–396. https://doi.org/10.1007/s12687-018-0384-2
Benjamin RH, Scheuerle AE, Scott DA, Navarro Sanchez ML, Langlois PH, Canfield MA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Swartz MD, Lupo PJ, Agopian AJ (2022) Birth defect co-occurrence patterns in the Texas Birth Defects Registry. Pediatr Res 91(5):1278–1285. https://doi.org/10.1038/s41390-021-01629-w
Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DB (2014) The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med Off J Am Coll Med Genet 16(2):176–182. https://doi.org/10.1038/gim.2013.99
Botto LD, Flood T, Little J et al (2013) Cancer risk in children and adolescents with birth defects: a population-based cohort study. PLoS ONE 8:e69077
Bae JY, Groen RS, Kushner AK (2011) Surgery as a public health intervention: common misconceptions versus the truth. Bull World Health Organ 89:395
The Plos Medicine Editors (2008) A crucial role for surgery in reaching the UN Millennium development goals. PLoS Med 5:e182. https://doi.org/10.1371/journal.pmed.0050182
Chriscaden K (2020). New toolkit aims to improve global birth defects surveillance. WHO Departmental News. https://www.who.int/news/item/02-12-2020-new-toolkit-aims-to-improve-global-birth-defects-surveillance
Dolk H, Leke AZ, Whitfield P, Moore R, Karnell K, Barišić I et al (2021) Global birth defects app: an innovative tool for describing and coding congenital anomalies at birth in low resource settings. Birth Defects Res 113:1057–1073
Sharma S, Bhanot R, Deka D, Bajpai M, Gupta DK (2017) Impact of fetal counseling on outcome of antenatal congenital surgical anomalies. Pediatr Surg Int 33:203–212
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TB, JSO, EA, DO, KL, SWB, JGM DB, DTJ, GK, AS, AY, and GSP did study conception and design. TKC, TTA, and BM reviewed the literature . TB, SS, TKC, TTA wrote the manuscript. TB, JSO, EA, DO, KL, SWB, JGM DB, DTJ, GK, AS, AY, GSP done critical revision.
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Banu, T., Sharma, S., Chowdhury, T.K. et al. Surgically Correctable Congenital Anomalies: Reducing Morbidity and Mortality in the First 8000 Days of Life. World J Surg 47, 3408–3418 (2023). https://doi.org/10.1007/s00268-023-07087-1
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DOI: https://doi.org/10.1007/s00268-023-07087-1