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Changes in the diagnosis of congenital cardiovascular malformations during the 1st year of life: impacts on epidemiological risk factor associations

Published online by Cambridge University Press:  30 August 2016

Kevin C. Firl ,
Jacquie S. King ,
Kepher H. Makambi  and
Christopher A. Loffredo
Kevin C. Firl
Affiliation:
Department of Biostatistics, Bioinformatics and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, United States of America
Jacquie S. King
Affiliation:
Department of Biostatistics, Bioinformatics and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, United States of America
Kepher H. Makambi
Affiliation:
Department of Biostatistics, Bioinformatics and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, United States of America
Christopher A. Loffredo*
Affiliation:
Department of Biostatistics, Bioinformatics and Biomathematics, Georgetown University Medical Center, Washington, District of Columbia, United States of America Department of Oncology, Georgetown University Medical Center, Washington, District of Columbia, United States of America
*
Correspondence to: C. A. Loffredo, Cancer Prevention and Control Program, Department of Oncology, Georgetown University Medical Center, 3970 Reservoir Road, Washington, DC 20057-1472, United States of America. Tel: (202) 687-3758; Fax: (202) 784-3034; E-mail: cal9@georgetown.edu
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Abstract

Many epidemiological studies base their classification of congenital cardiovascular malformations in newborns upon a single, initial diagnosis. This study aimed to evaluate the effect of subsequent diagnostic investigations on the results of epidemiological studies. We used diagnostic codes from the Baltimore-Washington Infant Study from the time of birth and at ~1 year of age. Odds ratios and 95% confidence intervals were used to identify associations between changes in diagnoses and infant characteristics, time period, that is, before and after introduction of color flow Doppler imaging, and diagnostic variables. Of the 3054 patients with data at both time points, 400 (13.1%) had diagnostic changes. For congenital cardiovascular malformations of early cardiogenesis, such as laterality and looping defects, conotruncal malformations, and atrioventricular septal defects, significant associations were observed between diagnostic change and case infants large for gestational age (odds ratio=0.22, p=0.01), diagnosed initially by echocardiography only (odds ratio=2.05, p=0.001), or with non-cardiac malformations (odds ratio=0.60, p=0.03). For all other congenital cardiovascular malformations, significant associations were observed with echocardiography-only diagnosis (odds ratio=1.43, p=0.04) and non-cardiac malformations (odds ratio=0.57, p<0.001). We found no statistically significant differences between risk factor odds ratios calculated using initial diagnoses versus those calculated using 1-year update diagnoses. Changes in congenital cardiovascular malformation diagnoses from birth to year 1 interval were significantly associated with infant characteristics and diagnostic modality but did not materially affect the outcome of risk factor associations.

Keywords

CHDcardiovascular malformationsclassificationepidemiology
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Issue 4 , May 2017 , pp. 770 - 781
Copyright
© Cambridge University Press 2016 

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References

1. Van der Linde, D, Konings, EE, Slager, MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 2011; 58: 2241–2247.Google Scholar
2. Reller, MD, Strickland, MJ, Mahle, WT, et al. Prevalence of congenital heart defects in metropolitan Atlanta. J Pediatr 2008; 153: 807–813.CrossRefGoogle ScholarPubMed
3. Ferencz, C, Rubin, JD, McCarter, RJ, et al. Congenital heart disease: prevalence at livebirth the Baltimore-Washington Infant Study. Am J Epidemiol 1985; 121: 31–36.CrossRefGoogle ScholarPubMed
4. Hoffman, JIE, Kaplan, S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 1890–1900.CrossRefGoogle ScholarPubMed
5. Mozaffarian, D, Benjamin, EJ, Go, AS. Heart disease and stroke statistics – 2015 update: a report from the American Heart Association. Circulation 2015; 131: e29–e322.Google Scholar
6. Marelli, AJ, Ionescu-Ittu, R, Mackie, AS, et al. Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010. Circulation 2014; 130: 749–756.Google Scholar
7. Green, A. Outcomes of congenital heart disease: a review. Pediatr Nurs 2004; 30: 280–284.Google ScholarPubMed
8. Gorini, F, Chiappa, E, Gargani, L, et al. Potential effects of environmental chemical contamination in congenital heart disease. Pediatr Cardiol 2014; 35: 559–568.Google Scholar
9. Jenkins, KJ, Correa, A, Feinstein, JA, et al. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on cardiovascular disease in the young: endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 2995–3014.CrossRefGoogle Scholar
10. Ferencz, C, Neill, CA, Boughman, JA, et al. Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr 1989; 114: 79–86.Google Scholar
11. Johnson, MC, Hing, A, Wood, MK, et al. Chromosome abnormalities in congenital heart disease. Am J Med Genet 1997; 70: 292–298.Google Scholar
12. Hartman, RJ, Rasmussen, SA, Botto, LD, et al. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study. Pediatr Cardiol 2011; 32: 1147–1157.Google Scholar
13. Liu, S, Joseph, KS, Lisonkova, S, et al. Association between maternal chronic conditions and congenital heart defects a population-based cohort study. Circulation 2013; 128: 583–589.Google Scholar
14. Wilson, PD, Loffredo, CA, Correa-Villasenor, A, et al. Attributable fraction for cardiac malformations. Am J Epidemiol 1998; 148: 414–423.Google Scholar
15. Waller, DK, Shaw, GM, Rasmussen, SA. Prepregnancy obesity as a risk factor for structural birth defects. Arch Pediatr Adolesc Med 2007; 161: 745–750.Google Scholar
16. Correa, A, Gilboa, SM, Botto, LD. Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus-associated birth defects. Am J Obstet Gynecol 2012; 206: 218.e1–218.e13.Google Scholar
17. Desrosiers, TA, Herring, AH, Shapira, SK. Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study. Occup Environ Med 2012; 69: 534–542.Google Scholar
18. Patel, SS, Burns, TL. Nongenetic risk factors and congenital heart defects. Pediatr Cardiol 2013; 34: 1535–1555.Google Scholar
19. Ferencz, C, Boughman, JA, Neill, CA, et al. Cardiac and noncardiac malformations: observations in a population-based study. Teratology 1987; 35: 367–378.CrossRefGoogle ScholarPubMed
20. Duncan, GJ, Kirkendall, NJ, Citro, CF. eds Panel on the Design of the National Children’s Study and Implications for the Generalizability of Results. The National Children’s Study 2014: An Assessment. National Academies Press, Washington, DC, 2014.Google Scholar
21. Tikkanen, J, Heinonen, OP. Risk factors for cardiovascular malformations in Finland. Eur J Epidemiol 1990; 6: 348–356.Google Scholar
22. Yoon, PW, Rasmussen, SA, Lynberg, MC, et al. The National Birth Defects Prevention Study. Public Health Rep 2001; 116: 32–40.CrossRefGoogle ScholarPubMed
23. Ferencz, C, Rubin, J, Loffredo, C, Magee, CM. The Epidemiology of Congenital Heart Disease, The Baltimore-Washington Infant Study (1981-1989). Futura Pub. Co. Inc., Mount Kisco, NY, 1993.Google Scholar
24. Ferencz, C, Loffredo, C, Correa-Villasenor, A, Wilson, PD. Genetic and Environmental Risk Factors of Major Cardiovascular Malformations, The Baltimore-Washington Infant Study, (1981-1989). Futura Pub. Co. Inc., Armonk, NY, 1997.Google Scholar
25. Loffredo, CA. Epidemiology of cardiovascular malformations: prevalence and risk factors. Am J Med Genet 2000; 97: 319–325.3.0.CO;2-E>CrossRefGoogle ScholarPubMed
26. Kuehl, KS, Loffredo, CA, Ferencz, C. Failure to diagnose congenital heart disease in infancy. Pediatrics 1999; 103: 743–747.Google Scholar
27. Abu-Harb, M, Hey, E, Wren, C. Death in infancy from unrecognised congenital heart disease. Arch Dis Child 1994; 71: 3–7.Google Scholar
28. Ainsworth, S, Wyllie, J, Wren, C. Prevalence and clinical significance of cardiac murmurs in neonates. Arch Dis Child Fetal Neonatal Ed 1999; 80: F43–F45.CrossRefGoogle ScholarPubMed
29. Wren, C, Richmond, S, Donaldson, L. Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed 1999; 80: F49–F53.Google Scholar
30. Marek, J, Skovránek, J, Hucín, B, et al. Seven-year experience of noninvasive preoperative diagnostics in children with congenital heart defects: comprehensive analysis of 2,788 consecutive patients. Cardiology 1995; 86: 488–495.Google Scholar
31. Sharland, G. Fetal cardiac screening and variation in prenatal detection rates of congenital heart disease: why bother with screening at all? Future Cardiol 2012; 8: 189–202.Google Scholar
32. Friedberg, MK, et al. Prenatal detection of congenital heart disease. J Pediatr 2009; 155: 26–31.e1.Google Scholar