References

  1. Congenital anomalies [website]. Geneva: World Health Organization; 2016 (http://www.who.int/mediacentre/factsheets/fs370/en/index.htmlexternal icon, accessed 12 February 2020).
  2. Resolution WHA63.17. Birth defects. In: Sixty-third World Health Assembly, Geneva, 17–21 May 2010. Geneva: World Health Organization; 2010 (http://apps.who.int/gb/ebwha/pdf_files/WHA63/A63_R17-en.pdfpdf iconexternal icon, accessed 12 February 2020).
  3. Thacker SB, Berkelman RL. History of public health surveillance. In: Halperin W, Baker EL, editors. Public health surveillance. New York: Van Norstrand Reinhold; 1992:1–15.
  4. Centers for Disease Control and Prevention. Updated guidelines for evaluating public health surveillance systems: recommendations from the Guidelines Working Group. MMWR Morb Mortal Wkly Rep. 2001;50(RR-13):1–30 (http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5013a1.htm, accessed 12 February 2020).
  5. Surveillance of antiretroviral drug toxicity in pregnancy and breastfeeding. Geneva: World Health Organization; 2013 (http://www.who.int/hiv/pub/arv_toxicity/technical-brief-maternal/en/index.htmlexternal icon, accessed 12 February 2020).
  6. Massachusetts Birth Defects Surveillance Reports. Massachusetts Birth Defects Monitoring Program reports and fact sheets [online database]. Boston: Commonwealth of Massachusetts; 2020 (https://www.mass.gov/lists/massachusettsbirth-defects-surveillance-reportsexternal icon, accessed 12 February 2020).
  7. Texas Department of State Health Services. Texas birth defects registry report of birth defects by delivery year online database]. Austin: Texas Health and Human Services; 2020 (https://www.dshs.state.tx.us/birthdefects/Data/reports.shtmexternal icon, accessed 12 February 2020).
  8. Annual report 2014. Rome: International Clearinghouse for Birth Defects, Surveillance and Research; 2015 (http://www.icbdsr.org/wp-content/annual_report/Report2014.pdfpdf iconexternal icon, accessed 12 February 2020).
  9. Alberta Congenital Anomalies Surveillance System. Twelfth report: data for 1997–2016. Calgary: Alberta Health Services; 2019 (https://www.albertahealthservices.ca/assets/info/cmg/if-cmg-ab-congenital-abnormalities-twelfth-report.pdfpdf iconexternal icon, accessed 12 February 2020).
  10. Utah Department of Health. Indicator-based information system for public health [online database]. Salt Lake City; State of Utah Government; 2020 (http://ibis.health.utah.gov/indicator/index/Alphabetical.htmlexternal icon, accessed 5 February 2020).
  11. Western Australian Register of Developmental Anomalies 1980–2014. Subiaco: King Edward Memorial Hospital; 2015 (https://wnhs.health.wa.gov.au/~/media/Files/Hospitals/WNHS/Our%20Services/State-wide%20Services/WARDA/Reports/2015_Annual_Report_of_the_WA_Register_of_Developmental_Anomalies.pdfpdf iconexternal icon, accessed 12 February 2020).
  12. International Statistical Classification of Diseases and Related Health Problems, 10th revision. Geneva: World Health Organization; 2010 (http://apps.who.int/classifications/icd10/browse/2010/enexternal icon, accessed 12 February 2020).
  13. Bower C, Rudy E, Callaghan A, Quick J, Nassar N. Age at diagnosis of birth defects. Birth Defects Res A Clin Mol Teratol. 2010;88(4):251–5. doi:10.1002/bdra.20658.
  14. Sever LE, editor. Guidelines for conducting birth defects surveillance. Atlanta: National Birth Defects Prevention Network, Inc.; 2001.
  15. Leite IC, Koifman S. Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil. Braz Oral Res. 2009;23(1):31–7. doi:10.1590/s1806-83242009000100006.
  16. Khalid Y, Ghina M, Fadi B, Fadi C, May K, Joseph R, et al. Consanguineous marriage and congenital heart defects: a casecontrol study in the neonatal period. Am J Med Genet A. 2006;140(14):1524–30. doi:10.1002/ajmg.a.31309.
  17. Nabulsi MM, Tamim H, Sabbagh M, Obeid MY, Yunis KA, Bitar FF. Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet A. 2003;116A(4):342–7. doi:10.1002/ajmg.a.10020.
  18. Ramegowda S, Ramachandra NB. Parental consanguinity increases congenital heart diseases in South India. Ann Hum Biol. 2006;33(5–6):519–28. doi:10.1080/03014460600909349.
  19. Ravichandran K, Shoukri M, Aljohar A, Shazia NS, Al-Twaijri Y, Al Jarba I. Consanguinity and occurrence of cleft lip/palate: a hospital-based registry study in Riyadh. Am J Med Genet A. 2012;158A(3):541–6. doi:10.1002/ ajmg.a.34432.
  20. Rittler M, Liascovich R, Lopez-Camelo J, Castilla EE. Parental consanguinity in specific types of congenital anomalies. Am J Med Genet A. 2001;102A(1):36–43. doi:10.1002/1096-8628(20010722)102:1<36::aid-ajmg1394>3.0.co;2-m.
  21. Shieh JT, Bittles AH, Hudgins L. Consanguinity and the risk of congenital heart disease. Am J Med Genet A. 2012;158A(5):1236–41. doi:10.1002/ajmg.a.35272.
  22. Siegfried N, Clarke M, Volmink J. Randomised controlled trials in Africa of HIV and AIDS: descriptive study and spatial distribution. BMJ. 2005;331(7519):742. doi:10.1136/bmj.331.7519.742.
  23. Seebregts CJ, Zwarenstein M, Mathews C, Fairall L, Flisher AJ, Seebregts C, et al. Handheld computers for survey and trial data collection in resource-poor settings: development and evaluation of PDACT, a Palm Pilot interviewing system. Int J Med Inform. 2009;78(11):721–31. doi:10.1016/j.ijmedinf.2008.10.006.
  24. DeRenzi B, Borriello G, Jackson J, Kumar VS, Parikh TS, Virk P, et al. Mobile phone tools for field-based health care workers in low-income countries. Mt Sinai J Med. 2011;78(3):406–18. doi:10.1002/msj.20256.
  25. De Nicola PD, Cernach MC, Perez AB, Brunoni D. Use of the internet to report congenital malformations on birth defects at four public maternity hospitals in the city of Sao Paulo, Brazil [in Portuguese]. Cad Saude Publica. 2010;26(7):1383–90. doi:10.1590/s0102-311×2010000700017.
  26. Mehta U, Clerk C, Allen E, Yore M, Sevene E, Singlovic J, et al. Protocol for a drugs exposure pregnancy registry for implementation in resource-limited settings. BMC Pregnancy Childbirth. 2012;12:89. doi:10.1186/1471-2393-12-89.
  27. Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural tube defects. N Engl J Med. 1999;341(20):1509–19. doi:10.1056/NEJM199911113412006.
  28. INTERGROWTH-21st [online database]. Oxford: Intergrowth-21st; 2020 (http://intergrowth21.ndog.ox.ac.uk/external icon, accessed 12 February 2020).
  29. OMIM: Online Mendelian Inheritance in Man [online database]. Baltimore: Johns Hopkins University; 2020 (www.omim.orgexternal icon or www.ncbi.nlm.nih.gov/omimexternal icon, accessed 12 February 2020).
  30. Hunter A, Frias J, Gillessen-Kaesbach G, Hughes H, Hones K, Wilson L. Elements of morphology: standard terminology for the ear. Am J Med Genet Part A. 2009;149A(1):40-60. doi:10.1002/ajmg.a.32599.
  31. Gold NB, Westgate M-N, Holmes LB. Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet A. 2011;155A(6):1225–35. doi:10.1002/ajmg.a.33999.
  32. Jackson JF, North ER, Thomas JG. Clinical diagnosis of Down’s syndrome. Clin Genet. 1976;9(5):483-7. doi:10.1111/j.1399-0004.1976.tb01601.x.
  33. Frey MT, Meaney-Delman D, Bowen V, Yazdy MM, Watkins SM, Thorpe PG, et al. Surveillance for emerging threats to pregnant women and infants. J Womens Health (Larchmt). 2019;28(8):1031–6. doi:10.1089/jwh.2019.7943.
  34. Moore CA, Staples JE, Dobyns WB, Pessoa A, Ventura CV, Fonseca EB, et al. Characterizing the pattern of anomalies in congenital Zika syndrome for pediatric clinicians. JAMA Pediatr. 2017;171(3):288–95. doi:10.1001/jamapediatrics.2016.3982.
  35. Ritter JM, Martines RB, Zaki SR. Zika virus: pathology from the pandemic. Arch Pathol Lab Med. 2017;141(1):49–59.
  36. Contact points for the 42 language versions of ICD-10. Geneva: World Health Organization; n.d. (http://www.who.int/classifications/icd/ICD-10%20languages.pdfpdf iconexternal icon, accessed 12 February 2020).
  37. ICD-10 interactive self learning tool. Geneva: World Health Organization; n.d. (http://apps.who.int/classifications/apps/icd/icd10training/external icon, accessed 12 February 2020).
  38. The Royal College of Paediatrics and Child Health adaptation of the International Statistical Classification of Diseases and Health Related Problems, 10th revision. London: Royal College of Paediatrics and Child Health; 2001.
  39. Martínez-Frías ML, Bermejo E, Frías JL. Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects. Am J Med Genet A. 2000;90(3):246–9. PMID: 10678664.
  40. Garne E, Dolk H, Loane M, Wellesley D, Barisic I, Calzolari E, et al.; EUROCAT Working Group. Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases. Birth Defects Res A Clin Mol Teratol. 2011;91(Suppl 1):S44–50. doi:10.1002/bdra.20777.
  41. International Clearinghouse for Birth Defects [website] (www.icbdsr.orgexternal icon, accessed 12 February 2020).
  42. National Birth Defects Prevention Network [website] (www.nbdpn.orgexternal icon, accessed 12 February 2020).
  43. EUROCAT: European surveillance of congenital anomalies [website] (www.eurocat-network.euexternal icon, accessed 12 February 2020).
  44. Doran GT. There’s a S.M.A.R.T. way to write management’s goal and objectives. Management Review. 1981;70:35–6.
  45. Stevenson RE, Hall JG, editors. Human malformations and related anomalies, second edition. Oxford: Oxford University Press; 2006.
  46. Zegers-Hochschild F, Adamson GD, de Mouzon J, Ishihara O, Mansour R, Nygren K, et al.; International Committee for Monitoring Assisted Reproductive Technology; World Health Organization. International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology. Fertil Steril. 2009;92(5):1520–4. doi:10.1016/j.fertnstert.2009.09.009.
  47. O’Toole M. Miller-Keane encyclopedia and dictionary of medicine, nursing and allied health, seventh ed. Philadelphia: WB Saunders; 2003.
  48. Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med. 1989;320(1):19–23. doi:10.1056/NEJM198901053200104.
  49. Brent RL. Environmental causes of human congenital malformations: the pediatrician’s role in dealing with these complex clinical problems caused by a multiplicity of environmental and genetic factors. Pediatrics. 2004;113 (4 Suppl):957–68. PMID: 15060188.
  50. Mother to baby [website]. Fact sheets. Brentwood: Organization of Teratology Information Specialists; 2020 (https://mothertobaby.org/fact-sheets-parent/external icon, accessed 12 February 2020).
  51. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet. 2009;374(9703):1773–85. doi:10.1016/S0140-6736(09)60695-4.
  52. Wlodarczyk BJ, Palacios AM, George TM, Finnell RH. Antiepileptic drugs and pregnancy outcomes. Am J Med Genet A. 2012;158A(8):2071–90. doi:10.1002/ajmg.a.35438.
  53. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955–97. doi:10.1038/ng1407.
  54. Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA; National Birth Defects Prevention Study. Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2003;67:193–201. doi:10.1002/bdra.10012.
  55. Mokdad AH, Annest JL, Ikeda RM, Mai CT. Public health surveillance for chronic diseases, injuries, and birth defects. In: Lee LM, Teutsch SM, Thacker SB, St Louis ME, editors. Principles and practice of public health surveillance. Oxford: Oxford University Press; 2010:255–74.
  56. Sheets BK, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the National Society of Genetic Counselors. J Genet Counsel. 2011;20(5):432–41. doi:10.1007/s10897-011-9375-8.
  57. Yu X, Nassar N, Mastroiacovo P, Canfield M, Groisman B, Bermejo-Sánchez E, Ritvanen A, Kiuru-Kuhlefelt S, et al. Hypospadias prevalence and trends in international birth defect surveillance systems, 1980-2010. Eur Urol. 2019;76(4):482–90. doi:10.1016/j.eururo.2019.06.027.
  58. Källén B, Bertollini R, Castilla E, Czeizel A, Knudsen LB, Martinez-Frias ML, et al. A joint international study on the epidemiology of hypospadias. Acta Paediatr Scand Suppl. 1986;324:1–52.
  59. Groisman B, Mastroiacovo P, Barbero P, Bidondo MP, Liascovich R, Botto LD. A proposal for the systematic assessment of data quality indicators in birth defects surveillance. Birth Defects Res. 2019 Apr 1;111(6):324-332. doi: 10.1002/bdr2.1474
  60. Groisman B, Barbero P, Mastroiacovo P, Botto LD, Bidondo MP, Liascovich R. Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina. Birth Defects Res. 2019 Apr 1;111(6):333-340. doi: 10.1002/bdr2.1472.

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