Main Article Content

Jin-Ping Zhao
Odile Sheehy
Anick Bérard


Major congenital malformations, Quebec pregnancy cohort, regional variations, founder effect, genetic predisposition, fetal growth environment



Congenital anomalies are the consequence of a complex interaction between genetic predisposition and fetal environment. Based on the Congenital Anomalies Surveillance in Canada Report, between 1998 and 2007 the rate of congenital heart defects in Quebec was significantly higher than the Canadian average; no data on the overall prevalence of congenital anomalies for Quebec or data on regional variations in any province are available.


To estimate the prevalence of major congenital malformations (MCMs) in all of the 17 administrative regions of Quebec.


Using data from the Quebec Pregnancy Cohort, we included infants if they were born between January 1, 1998 and December 31, 2008. MCMs were identified within the infant’s first year of life using validated ICD -9 and ICD -10 codes. The rate of MCMs was calculated and stratified on Quebec’s administrative regions.


Among 152,353 eligible infants, the prevalence of MCMs was 36.6 (all rates were reported as per 1,000 live births). The regions with the highest rate of MCMs were Lanaudière (48.1), Laval (45.8), and Mauricie (45.1). Regions with the lowest rate were Outaouais (13.4), Côte -Nord (19.1), Abitibi -Témiscamingue (27.5), Gaspésie -îles -de-la-Madeleine (27.9), and Saguenay- Lac -Saint -Jean (28 .9). Congenital heart defects (10.3) and musculoskeletal anomalies (12.6) were the most common. Laval had the highest rate of heart defects (16.1), and Lanaudière had the highest rate of musculoskeletal anomalies (22.0).


The central regions of Quebec had high rate of MCMs, whereas the relatively genetically homogenous peripheral regions of Quebec had lower rate of MCM, suggesting the importance of fetal growth environment in the etiology of MCMs in Quebec.

Abstract 228 | PDF Downloads 66


1. Tennant PW, Pearce MS, Bythell M, Rankin J. 20 - year survival of children born with congenital anomalies: a population-based study. Lancet 2010;375(9715):649 -56.
2. Dastgiri S, Stone DH, Le -Ha C, Gilmour WH. Prevalence and secular trend of congenital anomalies in Glasgow, UK. Arch Dis Child 2002;86(4):257 -63.
3. Public Health Agency of Canada. Congenital Anomalies in Canada 2013: A Perinatal Health Surveillance Report. Ottawa.
4. Nora JJ. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic -environmental interaction. Circulation 1968;38(3):604 -17.
5. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol 2010;686:349 -64.
6. De Braekeleer M, Dao TN. Hereditary disorders in the French Canadian population of Quebec. I. In search of founders. Hum Biol 1994;66(2):205 -23.
7. Scriver CR. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001;2:69 -101.
8. Moreau C, Vezina H, Yotova V, et al. Genetic heterogeneity in regional populations of Quebec -- parental lineages in the Gaspe Peninsula. Am J Phys Anthropol 2009;139(4):512- 22.
9. De Braekeleer M. Geographic distribution of 18 autosomal recessive disorders in the French Canadian population of Saguenay -Lac-Saint-Jean, Quebec. Ann Hum Biol 1995;22(2):111 -22.
10. Gagnon A, Heyer E. Fragmentation of the Quebec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17th and 18th centuries. Am J Phys Anthropol 2001;114(1):30 -41.
11. Choiniere R, Pageau M, Ferland M. Prevalence and geographic disparities in certain congenital anomalies in Quebec: comparison of estimation methods. Chronic Dis Can 1999;20(2):51 -7.
12. Berard A, Sheehy O. The Quebec Pregnancy Cohort - prevalence of medication use during gestation and pregnancy outcomes. PLoS One 2014;9(4):e93870.
13. Nakhai -Pour HR, Broy P, Berard A. Use of antidepressants during pregnancy and the risk of spontaneous abortion. CMAJ 2010;182(10):1031 - 7.
14. Tamblyn R, Lavoie G, Petrella L, Monette J. The use of prescription claims databases in pharmacoepidemiological research: the accuracy and comprehensiveness of the prescription claims database in Quebec. J Clin Epidemiol 1995;48(8):999 -1009.
15. Levy AR, Mayo NE, Grimard G. Rates of transcervical and pertrochanteric hip fractures in the province of Quebec, Canada, 1981 -1992. Am J Epidemiol 1995;142(4):428 -36.
16. Berard A, Ramos E, Rey E, Blais L, St -Andre M, Oraichi D. First trimester exposure to paroxetine and risk of cardiac malformations in infants: the importance of dosage. Birth Defects Res B Dev Reprod Toxicol 2007;80(1):18 -27.
17. Ramos E, Oraichi D, Rey E, Blais L, Berard A. Prevalence and predictors of antidepressant use in a cohor t of pregnant women. BJOG 2007;114(9):1055 -64.
18. Ofori B, Rey E, Berard A. Risk of congenital anomalies in pregnant users of statin drugs. Br J Clin Pharmacol 2007;64(4):496 -509.
19. Blais L, Berard A, Kettani FZ, Forget A. Validity of congenital malformation diagnostic codes recorded in Quebec's administrative databases. Pharmacoepidemiol Drug Saf 2013;22(8):881 -9.
20. World Health Organization. International Classification of Diseases Ninth Revision (ICD -9). Geneva, 2010.
21. World Health Organization. International Classification of Diseases Tenth Revision (ICD -10). Geneva, 2010.
22. Vezina H, Durocher F, Dumont M, et al. Molecular and genealogical characterization of the R1443X BRCA1 mutation in high- risk French - Canadian breast/ovarian cancer families. Hum Genet 2005;117(2 -3):119 -32.
23. De Braekeleer M. Hereditary disorders in Saguenay -Lac-St-Jean (Quebec, Canada). Hum Hered 1991;41(3):141 -6.
24. Torfs CP, Christianson RE. Maternal risk factors and major associated defects in infants with Down syndrome. Epidemiology 1999;10(3):264 -70.
25. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39(12):1890 -900.
26. Jennissen T. Political and Social Affairs Division. Health Issues in Rural Canada. Government of Canada Publications, December 1992.
27. Green RF, Devine O, Crider KS, et al. Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004. Ann Epidemiol 2010; 20(3):241 -9.
28. Martinez J, Pampalon R, Hamel D, Raymond G. Does living in rural communities rather than cities really make a difference in people's health and wellness? Institut National de Santé Publique du Québec, 2004.
29. Salem Yaniv S, Levy A, Wiznitzer A, Holcberg G, Mazor M, Sheiner E. A significant linear association exists between advanced maternal age and adverse perinatal outcome. Arch Gynecol Obstet 2011;283(4):755 -9.
30. Murphy HR, Steel SA, Roland JM, et al. Obstetric and perinatal outcomes in pregnanci es complicated by Type 1 and Type 2 diabetes: influences of glycaemic control, obesity and social disadvantage. Diabet Med 2011;28(9):1060 -7.
31. Hillemeier MM, Weisman CS, Chase GA, Dyer AM. Mental health status among rural women of reproductive age: findings from the Central Pennsylvania Women’s Health Study. Am J Public Health 2008;98(7): 1271 -9.
32. Page AN, Swannell S, Martin G, Hollingworth S, Hickie IB, Hall WD. Sociodemographic correlates of antidepressant utilisation in Australia. Med J Aust 2009;190 (9):479 -83.
33. Berard A, Zhao JP, Sheehy O. Sertraline use during pregnancy and the risk of major malformations. Am J Obstet Gynecol 2015; 212(6):795.e1 -795.e12
34. O'Neill MS, Kinney PL, Cohen AJ. Environmental equity in air quality management: local and internat ional implications for human health and climate change. J Toxicol Environ Health A 2008;71(9 -10):570 -7.
35. Statistiques: Accouchements et naissances. Ministère de la Santé et des Services sociaux. 2003; Governement de Quebec.