Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2005 Jan;42(1):54–57. doi: 10.1136/jmg.2004.023309

An aetiological classification of birth defects for epidemiological research

D Wellesley 1, P Boyd 1, H Dolk 1, S Pattenden 1
PMCID: PMC1735901  PMID: 15635076

Abstract

Background: Congenital anomaly registers collect data on antenatally and postnatally detected anomalies for surveillance, research, and public health purposes. Each anomaly is coded using the International Statistical Classification of Diseases and Related Health Problems (ICD-9/ICD-10) based on body systems, allowing accurate comparisons between registers for individual anomalies. When commencing an environmental, epidemiological study, it became clear to us that there is no standard classification that takes aetiology into account. This paper describes a new classification for use in studies addressing aetiology.

Method: A classification system was evolved and piloted using cases in a study of geographical variation in congenital anomaly prevalence.1 Cases that were difficult to categorise were noted, and after discussion with a team of experts, the classification was adjusted accordingly.

Results and conclusion: A robust, hierarchical method of classifying birth defects into eight categories has been produced, for use at source of data registration in conjunction with, but independent of, ICD coding.

Full Text

The Full Text of this article is available as a PDF (62.8 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chandley A. C. On the parental origin of de novo mutation in man. J Med Genet. 1991 Apr;28(4):217–223. doi: 10.1136/jmg.28.4.217. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Cox Gerald F., Bürger Joachim, Lip Va, Mau Ulrike A., Sperling Karl, Wu Bai-Lin, Horsthemke Bernhard. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002 May 8;71(1):162–164. doi: 10.1086/341096. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Czeizel A. Population surveillance of sentinel anomalies. Mutat Res. 1989 May;212(1):3–9. doi: 10.1016/0027-5107(89)90017-1. [DOI] [PubMed] [Google Scholar]
  4. DeBaun Michael R., Niemitz Emily L., Feinberg Andrew P. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet. 2002 Nov 18;72(1):156–160. doi: 10.1086/346031. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Goriely Anne, McVean Gilean A. T., Röjmyr Maria, Ingemarsson Björn, Wilkie Andrew O. M. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003 Aug 1;301(5633):643–646. doi: 10.1126/science.1085710. [DOI] [PubMed] [Google Scholar]
  6. Gosden Roger, Trasler Jacquetta, Lucifero Diana, Faddy Malcolm. Rare congenital disorders, imprinted genes, and assisted reproductive technology. Lancet. 2003 Jun 7;361(9373):1975–1977. doi: 10.1016/S0140-6736(03)13592-1. [DOI] [PubMed] [Google Scholar]
  7. Jones K. L., Jones M., Fisher J. C. A developmental approach to the classification of birth defects. Ann Plast Surg. 1985 Feb;14(2):135–141. doi: 10.1097/00000637-198502000-00007. [DOI] [PubMed] [Google Scholar]
  8. Moloney D. M., Slaney S. F., Oldridge M., Wall S. A., Sahlin P., Stenman G., Wilkie A. O. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996 May;13(1):48–53. doi: 10.1038/ng0596-48. [DOI] [PubMed] [Google Scholar]
  9. Rasmussen Sonja A., Olney Richard S., Holmes Lewis B., Lin Angela E., Keppler-Noreuil Kim M., Moore Cynthia A., National Birth Defects Prevention Study Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2003 Mar;67(3):193–201. doi: 10.1002/bdra.10012. [DOI] [PubMed] [Google Scholar]
  10. Risch N., Reich E. W., Wishnick M. M., McCarthy J. G. Spontaneous mutation and parental age in humans. Am J Hum Genet. 1987 Aug;41(2):218–248. [PMC free article] [PubMed] [Google Scholar]
  11. Sapienza C. A paternal wash in Apert syndrome. Nat Genet. 1996 May;13(1):9–10. doi: 10.1038/ng0596-9. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES