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Explanation and Prevention of Birth Defects

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Epidemiology of Human Congenital Malformations

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Abstract

This Chapter gives an overview of the impact of various factors for the risk of a congenital malformation in the offspring of a specific exposed pregnancy and its significance for the total number of malformed infants born in the population. An increased risk for any of the analyzed malformations was found at very low and at high maternal age, a slightly higher risk at parity 1 compared with parity 2-3, at maternal smoking, maternal overweight or obesity, and after a period of unwanted childlessness or previous miscarriage. Pre-existing maternal diabetes was associated with a doubled risk. The individual risk increases were moderate and the impact on the total number of malformed infants born was also relatively small. Some specific maternal diseases (like diabetes type 1) and some specific drugs are associated with a more evident risk increase and patients with such conditions or using such drugs should get pre-pregnancy counselling. The prophylactic use of multivitamins or folic acid may have little effect in a Western well-fare state but probably makes no harm. Genetic counselling is of great importance for families with genetic diseases but the impact on the total number of malformed infants born is limited. The most effective method to reduce the number of infants born with serious malformations is prenatal diagnosis followed by elective abortion in populations where this is acceptable.

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References

  • Berry RJ, Li Z, Erickson JD, Li S, Moore CA, Wang H, Mulinare J, Shao P, Wong L-Y C, Gindler J, Hong S-X, Correa A. Prevention of neural-tube defects with folic acid in China. N Engl J Med. 1999;341:1485–90.

    Article  PubMed  CAS  Google Scholar 

  • Besser LM, Williams LJ, Cragan JD. Interpreting changes in the epidemiology of anencephaly and spina bifida following folic acid fortification of the U.S. grain supply in the setting of long-term trends, Atlanta, Georgia, 1968–2003. Birth Defects Res A. 2007;79:730–6.

    Article  CAS  Google Scholar 

  • Botto LD, Milunare J, Erickson JD. Occurrence of congenital heart defects in relation to maternal multivitamin use. Am J Epidemiol. 2000;151:878–84.

    Article  PubMed  CAS  Google Scholar 

  • Castilla EE, Orioli I, López-Camelo JS, da Graça Dutra M, Nazer-Herrera J. Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America. Am J Med Genet A. 2003;123A:123–8.

    Article  PubMed  Google Scholar 

  • Chamberlain C. The prepregnancy clinic. BMJ. 1980;281:29–30.

    Article  PubMed  CAS  Google Scholar 

  • Clemmensen D, Thygesen M, Rasmussen MM, Fenger-Grøn M, Petersen OB, Mosdal C. Decreased incidence of myelomeningocele at birth: effect of folic acid recommendations or prenatal diagnosis? Childs Nerv Syst. 2011;27:1951–5.

    Article  PubMed  Google Scholar 

  • Córtes F, Mellado C, Pardo RA, Villarroel LA, Hertrampf E. Wheat flour fortification with follic acid: changes in neural tube defects rate in Chile. Am J Med Genet A. 2012;158A:1885–90.

    Article  PubMed  Google Scholar 

  • Czeizel AE, Dudás I. Prevention of the first occurrence of neural tube defects by periconceptional vitamin supplementation. N Engl J Med. 1992;327:1832–5.

    Article  PubMed  CAS  Google Scholar 

  • Czeizel AE. Experience of the Hungarian preconception service between 1984 and 2010. Eur J Obstet Gynecol Reprod Biol. 2012;161:18–25.

    Article  PubMed  CAS  Google Scholar 

  • De-Regil LM, Fernández-Gaxiola AC, Dowswell T, Peña-Rosas JP. Effects and safety of periconeptional folate supplementation for preventing birth defects (Review). Cochrane Database Syst Rev. 2010;(10):1–140

    Google Scholar 

  • Desrosiers TA, Lawson CC, Meyer RE, Richardson DB, Daniels JL, Waters MA, von Wingaarden E, Langlois P, Romtti PA, Correa A, National Birth Defects Prevention Study. Maternal occupational exposure to organic solvents during early pregnancy and risk of neural tube defects and orofacial clefts. Occup Environ Med. 2012;69:493–9.

    Article  PubMed  CAS  Google Scholar 

  • Draper ES, Rankin J, Tonks AM, Abrama KR, Field DJ, Clarke M, Kurinczuk J. Recreational drug use: a major risk factor for gastroschisis? Am J Epidemiol. 2008;167:485–91.

    Article  PubMed  Google Scholar 

  • Duong HT, Hashmi SS, Ramadhani T, Canfield MA, Scheuerle A, Waller DK. Maternal use of hot tub and major structural birth defects. Birth Defects Res A. 2011;91:816–41.

    Article  Google Scholar 

  • Duong HT, Hoyt AT, Carmichael SL, Gilboa SM, Canfield MA, Case A, McNeese ML, Waller DK, National Birth Defects Prevention Study. Is maternal parity an independent risk factor for birth defects? Birth Defects Res A. 2012;94:230–6.

    Article  CAS  Google Scholar 

  • Edwards MJ. Review: hyperthermia and fever during pregnancy. Birth Defects Res A. 2006;76:507–16.

    Article  CAS  Google Scholar 

  • Elwood J, Little J, Elwood JH. Epidemiology and control of neural tube defects. Monographs in epidemiology and biostatistics, vol. 20. Oxford, New York, Tokyo: Oxford University Press; 1982.

    Google Scholar 

  • Ericson A, Eriksson M, Källén B, Zetterström R. Maternal occupation and delivery outcome: a study using central registry data. Acta Paediatr Scand. 1987;76:512–8.

    Article  PubMed  CAS  Google Scholar 

  • Gilboa SM, Desrosiers TA, Lawson C, Lupo PJ, Riehle-Colanusson TJ, Stewart PA, van Wingaarden E, Waters MA, Correa A, National Birth Defects Prevention Study. Association between maternal occupational exposure to organic solvents and congenital heart defects, National Birth Defects Prevention Study, 1997–2002. Occup Environ Med. 2012;69:628–35.

    Article  PubMed  Google Scholar 

  • Jones KL, Smith DW, Ulleland CM, Streissguth AP. Pattern of malformation in offspring of alcoholic mothers. Lancet. 1973;i:1267.

    Article  Google Scholar 

  • Judge CM, Chasan-Taber L, Gensburg L, Nasca PC, Marshall EG. Physical exposures during pregnancy and congenital cardiovascular malformations. Paediatr Perinat Epidemiol. 2004;18:352–60.

    Article  PubMed  Google Scholar 

  • Källén B. Congential malformations in infants whose mothers reported the use of folic acid in early pregnancy in Sweden. A prospective population study. Congenit Anom. 2007;47:119–24.

    Article  Google Scholar 

  • Källén B. Drugs during pregnancy. New York: Nova Biomedical Books; 2009.

    Google Scholar 

  • Källén B, Otterblad Olausson P. Use of folic acid and delivery outcome: a prospective registry study. Reprod Toxicol. 2002;16:327–32.

    Google Scholar 

  • Källén B, Otterblad Olausson P. Vaccination against H1N1 influenza with Pandemrix® during pregnancy and delivery outcome: a Swedish register study. BJOG. 2012;119:1583–90.

    Google Scholar 

  • Källén B, Lundberg G, Åberg A. Relationship between vitamin use, smoking, and nausea and vomiting of pregnancy. Acta Obstet Gynecol Scand. 2003;82:916–20.

    PubMed  Google Scholar 

  • Källén K. Maternal smoking, body mass index, and neural tube defects. Am J Epidemiol. 1998;147:1103–11.

    Article  PubMed  Google Scholar 

  • Källén K. The impact of maternal smoking during pregnancy on delivery outcome. Eur J Public Health. 2001;11:329–33.

    Article  PubMed  Google Scholar 

  • Kalter H. Folic acid and human malformations: a summary and evaluation. Reprod Toxicol. 2000;14:463–76. 1442–1446.

    Article  PubMed  CAS  Google Scholar 

  • Kelly D, O’Dowd T, Reulbach U. Use of folic acid supplements and risk of cleft lip and palate in infants: a population-based cohort study. Br J Gen Pract. 2012;62:e466–72.

    Article  PubMed  Google Scholar 

  • Khattak S, K-Moghtader G, McMartin K, Barrera M, Kennedy D, Koren G. Pregnancy outcome following gestational exposure to organic solvents: a prospective controlled study. JAMA. 1999;281:1106–9.

    Article  PubMed  CAS  Google Scholar 

  • Kirke PN, Daly LE, Elwood JH, Irish Vitamin Study Group. A randomized trial of low dose folic acid to prevent neural tube defects. Arch Dis Child. 1992;67:1442–6.

    Article  PubMed  CAS  Google Scholar 

  • Krishnan AN, Sable CA, Donofrio MT. Spectrum of fetal echocardiographic findings in fetuses of women with clinical or serologic evidence of systemic lupus erythematosus. J Matern Fetal Neonatal Med. 2008;21:776–82.

    Article  PubMed  Google Scholar 

  • Laurence KM, James N, Campbell H. Double-blind randomized controlled trial of folate treatment before conception to prevent recurrence of neural tube defects. BMJ. 1981;282:1509–11.

    Article  PubMed  CAS  Google Scholar 

  • López-Camelo JS, Castilla EE, Orioli IM. Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries. Am J Med Genet A. 2010;152A:2444–58.

    Article  PubMed  Google Scholar 

  • Milunsky A, Jick H, Jick SS, Bruell CI, MacLaughlin DS, Rothman KJ, Willett W. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA. 1989;262:2847–52.

    Article  PubMed  CAS  Google Scholar 

  • MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet. 1991;338:131–7.

    Article  Google Scholar 

  • Muggli EE, Halliday JL. Folic acid and risk of twinning: a systematic review of the recent literature, July 1994 to July 2006. Med J Aust. 2007;186:243–8.

    PubMed  Google Scholar 

  • Orioli IM, Lima do Nascimento R, López-Camelo JS, Castilla EE. Effects of folic acid fortification on spina bifida prevalence in Brazil. Birth Defects Res A. 2011;91:831–5.

    Article  CAS  Google Scholar 

  • Robert E, Guibaud P. Maternal valproic acid and congenital neural tube defect. Lancet. 1982;ii:937.

    Article  Google Scholar 

  • Rosano A, Smithells D, Cacciani L, Botting B, Castilla E, Cornel M, Erickson D, Goujard J, Irgens L, Merlob P, Robert E, Siffel C, Stoll C, Sumiyoshi Y. Time trends in neural tube defects prevalence in relation to preventive strategies: an international study. J Epidemiol Community Health. 1999;53:630–5.

    Article  PubMed  CAS  Google Scholar 

  • Rylander L, Källén B. Reproductive outcome among hair dresses. Scand J Work Environ Health. 2005;31:212–7.

    Article  PubMed  Google Scholar 

  • Shaw GM, Schaffer D, Velie EM, Morland K, Harris JA. Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiology. 1995a;6:219.226.

    Article  PubMed  Google Scholar 

  • Shaw GM, Lammer EJ, Wasserman CR, O’Malley CD, Tolarova MM. Risks of orofacial clefts in children born to women using multivitamins containing folic acid preconceptionally. Lancet. 1995b;346:393–6.

    Article  PubMed  CAS  Google Scholar 

  • Sithisam T, Granger DT, Bada HS. Consequences of prenatal substance use. Int J Adolesc Med Health. 2012;24:105–12.

    Google Scholar 

  • Smithells RW, Sheppard S, Shorah CJ. Vitamin deficiencies and neural tube defects. Arch Dis Child. 1976;51:944–50.

    Article  PubMed  CAS  Google Scholar 

  • Steel JM, Johnstone FD, Hepburn DA, Smith AF. Can prepregnancy care of diabetic women reduce the risk of abnormal babies? BMJ. 1990;301:1070–4.

    Article  PubMed  CAS  Google Scholar 

  • Terplan M, Wright T. The effects of cocaine and amphetamine use during pregnancy on the newborn: myth versus reality. J Addict Dis. 2011;30:1–5.

    Article  PubMed  Google Scholar 

  • van Gelder MM, Reefhuis J, Caton AR, Werler MM, Druschel CM, Roeleveld N, National Birth Defects Prevention Study. Maternal periconceptional illicit drug use and the risk of congenital malformations. Epidemiology. 2009;20:60–6.

    Article  PubMed  Google Scholar 

  • Vereczkey A, Kósa Z, Csáky-Szunyogh M, Czeizel A. Isolated atrioventricular canal defects: birth outcomes and risk factors: a population-based Hungarian case-control study 1980–1996. Birth Defects Res A. 2013;97:217–24.

    Article  CAS  Google Scholar 

  • Werler MM, Hayes C, Louik C, Shapiro S, Mitchell AA. Multivitamin supplementation and risk of birth defects. Am J Epidemiol. 1999;150:675–82.

    Article  PubMed  CAS  Google Scholar 

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  1. Tornblad Institute, Lund University, Lund, Sweden

    Bengt Källén

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  1. Bengt Källén
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Källén, B. (2014). Explanation and Prevention of Birth Defects. In: Epidemiology of Human Congenital Malformations. Springer, Cham. https://doi.org/10.1007/978-3-319-01472-2_32

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  • DOI: https://doi.org/10.1007/978-3-319-01472-2_32

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  • Print ISBN: 978-3-319-01471-5

  • Online ISBN: 978-3-319-01472-2

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