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Public Health Rep. 2001; 116(Suppl 1): 32–40.
PMCID: PMC1913684

The National Birth Defects Prevention Study.

Abstract

The National Birth Defects Prevention Study was designed to identify infants with major birth defects and evaluate genetic and environmental factors associated with the occurrence of birth defects. The ongoing case-control study covers an annual birth population of 482,000 and includes cases identified from birth defect surveillance registries in eight states. Infants used as controls are randomly selected from birth certificates or birth hospital records. Mothers of case and control infants are interviewed and parents are asked to collect buccal cells from themselves and their infants for DNA testing. Information gathered from the interviews and the DNA specimens will be used to study independent genetic and environmental factors and gene-environment interactions for a broad range of birth defects. As of December 2000, 7,470 cases and 3,821 controls had been ascertained in the eight states. Interviews had been completed with 70% of the eligible case and control mothers, buccal cell collection had begun in all of the study sites, and researchers were developing analysis plans for the compiled data. This study is the largest and broadest collaborative effort ever conducted among the nation's leading birth defect researchers. The unprecedented statistical power that will result from this study will enable scientists to study the epidemiology of some rare birth defects for the first time. The compiled interview data and banked DNA of approximately 35 categories of birth defects will facilitate future research as new hypotheses and improved technologies emerge.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med. 1989 Jan 5;320(1):19–23. [PubMed]
  • Erickson JD. Risk factors for birth defects: data from the Atlanta Birth Defects Case-Control Study. Teratology. 1991 Jan;43(1):41–51. [PubMed]
  • Lynberg MC, Khoury MJ. Interaction between epidemiology and laboratory sciences in the study of birth defects: design of birth defects risk factor surveillance in metropolitan Atlanta. J Toxicol Environ Health. 1993 Oct-Nov;40(2-3):435–444. [PubMed]
  • Rodríguez-Pinilla E, Martínez-Frías ML. Corticosteroids during pregnancy and oral clefts: a case-control study. Teratology. 1998 Jul;58(1):2–5. [PubMed]
  • Andrieu N, Goldstein AM. Epidemiologic and genetic approaches in the study of gene-environment interaction: an overview of available methods. Epidemiol Rev. 1998;20(2):137–147. [PubMed]
  • Hwang SJ, Beaty TH, Panny SR, Street NA, Joseph JM, Gordon S, McIntosh I, Francomano CA. Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am J Epidemiol. 1995 Apr 1;141(7):629–636. [PubMed]
  • Shaw GM, Wasserman CR, Lammer EJ, O'Malley CD, Murray JC, Basart AM, Tolarova MM. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet. 1996 Mar;58(3):551–561. [PMC free article] [PubMed]
  • Hwang SJ, Beaty TH, McIntosh I, Hefferon T, Panny SR. Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency. Am J Med Genet. 1998 Feb 3;75(4):419–423. [PubMed]
  • Romitti PA, Lidral AC, Munger RG, Daack-Hirsch S, Burns TL, Murray JC. Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts. Teratology. 1999 Jan;59(1):39–50. [PubMed]
  • Buehler BA, Rao V, Finnell RH. Biochemical and molecular teratology of fetal hydantoin syndrome. Neurol Clin. 1994 Nov;12(4):741–748. [PubMed]
  • Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet. 1993 Feb;2(2):159–163. [PubMed]
  • Graw J. Cataract mutations and lens development. Prog Retin Eye Res. 1999 Mar;18(2):235–267. [PubMed]
  • Werler MM, Pober BR, Nelson K, Holmes LB. Reporting accuracy among mothers of malformed and nonmalformed infants. Am J Epidemiol. 1989 Feb;129(2):415–421. [PubMed]
  • Drews C, Greenland S, Flanders WD. The use of restricted controls to prevent recall bias in case-control studies of reproductive outcomes. Ann Epidemiol. 1993 Jan;3(1):86–92. [PubMed]
  • Forrester MB, Merz RD, Yoon PW. Impact of prenatal diagnosis and elective termination on the prevalence of selected birth defects in Hawaii. Am J Epidemiol. 1998 Dec 15;148(12):1206–1211. [PubMed]
  • Shields DC, Kirke PN, Mills JL, Ramsbottom D, Molloy AM, Burke H, Weir DG, Scott JM, Whitehead AS. The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am J Hum Genet. 1999 Apr;64(4):1045–1055. [PMC free article] [PubMed]
  • Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet. 1993 Mar;52(3):506–516. [PMC free article] [PubMed]
  • Flanders WD, Khoury MJ. Analysis of case-parental control studies: method for the study of associations between disease and genetic markers. Am J Epidemiol. 1996 Oct 1;144(7):696–703. [PubMed]
  • Maestri NE, Beaty TH, Hetmanski J, Smith EA, McIntosh I, Wyszynski DF, Liang KY, Duffy DL, VanderKolk C. Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models. Am J Med Genet. 1997 Dec 19;73(3):337–344. [PubMed]
  • Schaid DJ. Case-parents design for gene-environment interaction. Genet Epidemiol. 1999;16(3):261–273. [PubMed]
  • Walker AH, Najarian D, White DL, Jaffe JF, Kanetsky PA, Rebbeck TR. Collection of genomic DNA by buccal swabs for polymerase chain reaction-based biomarker assays. Environ Health Perspect. 1999 Jul;107(7):517–520. [PMC free article] [PubMed]
  • Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5847–5851. [PMC free article] [PubMed]

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