Role of Infectious Agents in Birth Defects

An Overview of Still-Unresolved Problems
  • André J. Nahmias
  • Aarolyn M. Visintine


The origins of ill effects in the fetus include monogenic or chromosomal, multifactorial (genetic and environmental combined), or predominantly environmental influences (Scriver, 1976). Although infectious agents, primarily viruses, are among the most important known environmental insults to the fetus, many genetic overtones can be noted, suggesting that these effects may well be multifactorial. Thus the unfolding fields of developmental immunology and immunogenetics indicate that the genetic attributes of the pregnant woman and her conceptus influence fetal outcome as regards possible graft vs. host rejection and effects of transplacentally transmitted infectious agents (Cooper and Dayton, 1977; Götze, 1977). Experimental studies also support the possibility that viruses can produce chromosomal and possibly even genetic alterations (Nichols, 1966), and the seasonal clustering of some aneuploidies (Pai et al., 1978) suggests possible infectious causes. Indeed, if vertically transmitted RNA retroviruses exist in the germ plasm of humans, as they do in other species, such chromosomally integrated viral genetic material might well affect embryogenesis (Temin, 1976). Furthermore, the possibility of treating genetic or chromosomal disorders with DNA recombinants using viruses and/or bacteria is receiving much attention today.


Pregnant Woman Infectious Agent Rubella Virus Intrauterine Infection Congenital Toxoplasmosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Alford, C. A., Stagno, S., and Reynolds, D. W., 1975, Diagnosis of chronic perinatal infections. Am. J. Dis. Child. 129:455.PubMedGoogle Scholar
  2. Baron, J., Youngblood, L., Siewers, C. M. F., et al., 1969, The incidence of cytomegalovirus, herpes simplex, rubella, and toxoplasma antibodies in microcephalic mentally retarded and normocephalic children. Pediatrics 44:932.PubMedGoogle Scholar
  3. Blattner, R. J., Williamson, A. P., and Heys, F., 1973, Role of viruses in the etiology of congenital malformations, Proc. Med. Virol. 15:1.Google Scholar
  4. Charles, D., and Finland, M. (eds.), 1973, Obstetric and Perinatal Infections, Lea and Febiger, Philadelphia.Google Scholar
  5. Center for Disease Control: Rubella Surveillance, July 1973-December 1975, August 1976, p. 11.Google Scholar
  6. Cooper, M. D., and Dayton, D. H. (eds.), 1977, Development of Host Defense, Raven Press, New York.Google Scholar
  7. Davis, L. E., Tweed, G. V., and Stewart, J. A., 1971, Cytomegalovirus mononucleosis in a first trimester pregnant female with transmission to the fetus. Pediatrics 48:200.PubMedGoogle Scholar
  8. Desmonts, G., and Couvreur, J., 1975, Toxoplasmosis: Epidemiologic and serologic aspects of perinatal infection, in:Infections of the Fetus and the Newborn Infant (S. Krugman and A. Gershon, eds.), pp. 115–132, Alan R. Liss, Inc., New York.Google Scholar
  9. Elek, S. D., and Stem, H., 1974, Development of a vaccine against mental retardation caused by cytomegalovirus infection in utero. Lancet 1:1.CrossRefGoogle Scholar
  10. Finley, W. H., and Finley, S. C., 1976. The diagnosis of genetic disorders before birth, South. Med. J. 69:1486.PubMedCrossRefGoogle Scholar
  11. Fuccillo, D. A., and Sever, J. L., 1973, Viral teratology, Rev. 37:19.Google Scholar
  12. Gadjusek, D. C., 1977, Unconventional viruses and the origin and disappearance of kuru, Science 197:943.CrossRefGoogle Scholar
  13. Garcia, A. G. P., 1968, Congenital toxoplasmosis in two successive sibs, Arch. Dis. Child. 43:705.CrossRefGoogle Scholar
  14. Götze, D. (ed.), 1977, The Major Histocompatibility System in Man and Animals, Springer- Verlag, New York.Google Scholar
  15. Gregg, N. M., 1941, Congenital cataract following German measles in the mother. Trans. Ophthalmol. Soc. Aust. (BMA) 3:35.Google Scholar
  16. Hanshaw, J. B., 1966, Cytomegalovirus complement-fixing antibody in microcephaly, N. Engl. J. Med. 275:476.PubMedCrossRefGoogle Scholar
  17. Hanshaw, J. B., and Dudgeon, J. A. (eds.), 1978, Viral Diseases of the Fetus and Newborn, Saunders, Philadelphia.Google Scholar
  18. Johnson, R. T., 1975, Hydrocephalus and viral infections, Dev. Med. Child. Neurol. 17:807.PubMedCrossRefGoogle Scholar
  19. Krugman, S., and Gershon, A. (eds)., 1975, Infections of the Fetus and Newborn Infant, Alan R. Liss, Inc., New York.Google Scholar
  20. Lee, F. K., Nahmias, A. J., and Stagno, S., 1978, Rapid diagnosis of cytomegalovirus infection in infants by electron microscopy. New Engl. J. Med. 229:1266.CrossRefGoogle Scholar
  21. Nahmias, A., 1974, The TORCH syndrome of perinatal infections, Hosp. Pract. 9:65.Google Scholar
  22. Nahmias, A., and Visintine, A., 1976, Venereal disease from the pediatrician’s viewpoint, J. Am. Ven. Dis. Assoc. 2:1.Google Scholar
  23. Nahmias, A., Visintine, A., and Starr, S., 1976, Viral infections of the fetus and newborn, in: Viral Infections: A Clinical Approach (W. L. Drew, ed.), F. A. Davis Co., Philadelphia.Google Scholar
  24. Nichols, W. W., 1966, The role of viruses in the etiology of chromosomal abnormalities. Am. J. Hum. Genet. 18:81.PubMedGoogle Scholar
  25. Overall, J. C., and Glasgow, L. A., 1970, Virus infection of the fetus and newborn infant, J. Pediat. 77:315.PubMedCrossRefGoogle Scholar
  26. Pai, G. S., Valle, D., Thomas, G., et al., 1978, Cluster of trisomy 13 live births. Lancet 1:613.PubMedCrossRefGoogle Scholar
  27. Plotkin, S. A., Farquhar, J., and Horberger, E., 1976, Clinical trials of immunization with the Towne 125 strain of human cytomegalovirus, 7. Infect. Dis. 134:470.CrossRefGoogle Scholar
  28. Reimer, C. B., Black, C. M., Phillips, D. J., et al., 1975, The specificity of fetal IgM; antibody or anti-antibody? Ann. N.Y. Acad. Sci. 254:77.PubMedCrossRefGoogle Scholar
  29. Remington, J. S., and Desmonts, G., 1976, Toxoplasmosis, in:Infectious Diseases of the Fetus and Newborn Infant J. Remington and J. Klein, eds.), Saunders, Philadelphia.Google Scholar
  30. Remington, J. S., and Klein, J. O. (eds.), 1976, Infectious Diseases of the Fetus and Newborn Infant, Saunders, Philadelphia.Google Scholar
  31. Reynolds, D. W., Stagno, S., Hosty, T. W., et al., 1973, Maternal cytomegalovirus excretion and perinatal infection, N. Engl. J. Med. 289:1.PubMedCrossRefGoogle Scholar
  32. Saxon, S. A., Knight, W., Reynolds, D. W., et al., 1973, Intellectual deficits in children born with subclinical congenital toxoplasmosis: A preliminary report, J. Pediat. 82:792.PubMedCrossRefGoogle Scholar
  33. Scriver, C. R., 1976, Genetics: Voyage of discovery for everyman, Pediat. Res. 10:865.PubMedCrossRefGoogle Scholar
  34. Sever, J. L., 1966, Perinatal infections affecting the developing fetus and newborn, in: The Prevention of Mental Retardation Through Control of Infectious Diseases, pp. 37–68, U.S. Department of Health, Education, and Welfare, Washington, D.C.Google Scholar
  35. Stagno, S., Reynolds, D. W., Tsiantos, A., et al., 1975, Comparative serial virologic and serologic studies of symptomatic and subclinical congenitally and natally acquired cytomegalovirus infections, J. Infect. Dis. 135:568.CrossRefGoogle Scholar
  36. Stagno, S., Volanskis, J., Reynolds, D., et al., 1977a, Virus-host interactions in perinatally acquired cytomegalovirus infections of man: Comparative studies on antigenic load and immune complex formation, in:Development of Host Defense (M. D. Cooper and D. H. Dayton, eds.), pp. 237–249, Raven Press, New York.Google Scholar
  37. Stagno, S., Reynolds, D. W., Huang, E. S., et al., 1977b, Congenital cytomegalovirus infection- Occurrence in one immune population, N. Engl. J. Med. 296:1259.CrossRefGoogle Scholar
  38. Temin, H. M., 1976, The DNA provirus hypothesis. Science 192:1075.PubMedCrossRefGoogle Scholar

Copyright information

© Aubrey Milunsky 1979

Authors and Affiliations

  • André J. Nahmias
    • 1
  • Aarolyn M. Visintine
    • 1
  1. 1.Department of Pediatrics, Infectious Diseases and Immunology DivisionEmory University School of MedicineAtlantaUSA

Personalised recommendations