Prenatal Diagnosis and Public Policy

  • Gilbert S. Omenn


Developments in human genetics and genetic counseling have high visibility among the public. The remarkable advances in genetic counseling made feasible by amniocentesis and prenatal diagnosis have raised many challenges about indications for using new technologies for diagnosis and treatment, about assuring access for all who need them, and about adequate support for research and services. Ethical dilemmas and legal disputes, which are common enough for medical care decisions and outcomes involving only a single patient, seem to be magnified in prenatal genetic diagnoses; these diagnoses, of course, involve a whole family, may imply different approaches to different ethnic groups within the population, and touch upon deeply held views of the moral, legal, and political position of the fetus. Many people and many health professionals look to the government for leadership, consensus-building, or adjudication in these complex matters.


Genetic Counseling Down Syndrome Prenatal Diagnosis Neural Tube Defect Genetic Service 
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.


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  1. Baker, P. A., 1981, Cost benefit analysis of screening spina bifida, N. Z. Med. J. 93: 386.PubMedGoogle Scholar
  2. Banta, D., 1984, The use of modern technologies: Problems and perspectives for industrialized and developing countries, Bull. Pan Am. Health Org. 18: 139.Google Scholar
  3. Berini, R., Bloom, A., Hanson, J., et al., 1982, A model for the introduction of medical genetics into a health maintenance organization, Am. J. Hum. Genet. 34: 81 A.Google Scholar
  4. Bloom, A. D., (ed.), 1981, Guidelines for Studies of Human Populations Exposed to Mutagenic and Reproductive Hazards, March of Dimes Birth Defects Foundation, New York.Google Scholar
  5. Crandall, B. F., and Matsumoto, M., 1984, Routine amniotic fluid alpha-fetoprotein measurement in 34,000 pregnancies, Am. J. Obstet. Gynecol. 149: 744.PubMedGoogle Scholar
  6. Dworkin, R. B., and Omenn, G. S., 1985, Legal aspects of human genetics, Annu. Rev. Public Health 6: 107.PubMedCrossRefGoogle Scholar
  7. Environmental Protection Agency, 1984, Proposed guidelines for carcinogen risk assessment; proposed guidelines for exposure assessment; proposed guidelines for mutagenicity risk assessment; proposed guidelines for the health assessment of suspect developmental toxicants, Fed. Reg. 49: 46294.Google Scholar
  8. Fineman, R. M., and Gordis, D. M., 1982, Jewish perspective on prenatal diagnosis and selective abortion of affected fetuses, including some comparisons with prevailing Catholic beliefs, Am. J. Med. Genet. 12: 355.PubMedCrossRefGoogle Scholar
  9. Galjaard, H., 1976, European experience with prenatal diagnosis of congenital disease; A survey of 6121 cases, Cytogenet. Cell Genet. 16: 453.PubMedCrossRefGoogle Scholar
  10. Goodman, M. J., and Goodman, L. E., 1982, The overselling of genetic anxiety, Hastings Center Rep. 1982: 20.CrossRefGoogle Scholar
  11. Hansen, K. D., and Omenn, G. S., 1976, Genetic counseling: The search for the adopted child, J. Leg. Med. 4: 8AA.Google Scholar
  12. Henderson, J. B., 1982, Measuring the benefits of screening for open neural tube defects, J. Epidemiol.Community Health 36: 214.PubMedCrossRefGoogle Scholar
  13. Hendin, D., and Marks, J., 1978, The Genetic Connection: How to Protect Your Family against Hereditary Disease, Morrow, New York.Google Scholar
  14. Holtzman, N. A., 1981, The impact of the federal cutback on genetic services, Am. J. Med. Genet. 15: 353.CrossRefGoogle Scholar
  15. Holtzman, N. A., Leonard, C. O., and Farfel, M. R., 1981, Issues in antenatal and neonatal screening and surveillance for hereditary and congenital disorders, Annu. Rev. Public Health 2: 219.PubMedCrossRefGoogle Scholar
  16. Hook, E. W., 1979, Genetic counseling and prenatal cytogenetic services: Cost-benefit considerations and policy implications, in: Service and Education in Medical Genetics (I. H. Porter and E. B. Hook, eds.), p. 29, Academic Press, New York.Google Scholar
  17. Hook, E. W., 1984, Genetic triage and genetic counseling, Am. J. Med. Genet. 17: 531.CrossRefGoogle Scholar
  18. Institute of Medicine, 1983, Report of Committee to Develop a Plan for a Private I Public Sector Entity to Assess Technology in Medical Care, National Academy Press, Washington, D.C.Google Scholar
  19. Jackson, L., 1984a, CVS (Jefferson Medical College, Philadelphia), April 20, p. 5.Google Scholar
  20. Jackson, L., 1984b, CVS (Jefferson Medical College, Philadelphia), June 25, p. 2.Google Scholar
  21. Kaback, M. M., Greenwald, S., and Brossman, R., 1981, Carrier detection and prenatal diagnosis in Tay-Sachs disease (TSD): Summary experience of the first decade, Pediatr. Res. 15: 632.CrossRefGoogle Scholar
  22. Layde, P. M., von Allmen, S. D., and Oakley, G. P., Jr., 1979, Maternal serum alpha-fetoprotein screening: A cost-benefit analysis, Am. J. Public Health 69: 566.PubMedCrossRefGoogle Scholar
  23. McNeil, B. J., and Pauker, S. G., 1984, Decision analysis for public health: Principles and illustrations, Annu. Rev. Public Health 5: 135.PubMedCrossRefGoogle Scholar
  24. Medical Research Council Working Party on Amniocentesis, 1978, An assessment of the hazards of amniocentesis, Br. J. Obstet. Gynaecol. 84(Suppl. 2):1.Google Scholar
  25. Milunsky, A., 1977, Know Your Genes, Houghton Mifflin, Boston.Google Scholar
  26. Milunsky, A., 1986, Choices Not Chances: How to Have the Healthiest Baby You Can, Simon and Schuster, New York.Google Scholar
  27. Milunsky, A., and Alpert, E., 1984, Results and benefits of a maternal serum alpha-fetoprotein screening program, J. Am. Med. Assoc. 252: 1438.CrossRefGoogle Scholar
  28. Motulsky, A. G., and Murray, J., 1983, Will prenatal diagnosis with selective abortion affect society’s attitude toward the handicapped?, in: Research Ethics (K. Berg and K. B. Tranoy, eds.), p. 277, Liss, New York.Google Scholar
  29. Motulsky, A. G., Fraser, G. R., and Felsenstein, J., 1971, Public health and long-term genetic implications of intrauterine diagnosis and selective abortion, Birth Defects Orig. Artic. Ser. XVII(5):636.Google Scholar
  30. National Academy of Sciences, 1975, Genetic Screening: Principles, Programs, and Research, National Academy Press, Washington, D.C.Google Scholar
  31. National Research Council, 1983, Risk Assessment in the Federal Government: Managing the Process, National Academy Press, Washington, D.C.Google Scholar
  32. Nelson, C. J., and Holson, J. F., 1978, Statistical analysis of teratogenic data: Problems and advancements, J. Environ. Pathol. Toxicol. 2: 187.PubMedGoogle Scholar
  33. NICHHD National Registry for Amniocentesis Study Group, 1976, Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy, J. Am. Med. Assoc. 236: 1471.CrossRefGoogle Scholar
  34. Office of Technology Assessment, 1978, Assessing the Efficacy and Safety of Medical Technologies, U.S.Google Scholar
  35. Government Printing Office, Washington, D.C. Office of Technology Assessment, 1980, The Implications of Cost-Effectiveness Analysis of Medical Technology, U.S.Google Scholar
  36. Government Printing Office, Washington, D.C. Office of Technology Assessment, 1982, Strategies for Medical Technology Assessment, U.S. Government Printing Office, Washington, D.C.Google Scholar
  37. Omenn, G. S., 1978, Prenatal diagnosis of genetic disorder, Science 200: 952.PubMedCrossRefGoogle Scholar
  38. Omenn, G. S., 1984a, Public policy issues, Birth Defects Orig. Artic. Ser. XX(4):206.Google Scholar
  39. Omenn, G. S., 1984b, A framework for reproductive risk assessment and surveillance, in: Environmental Influences on Fertility, Pregnancy, and Development: Strategies for Measurement and Evaluation (M. S. Legator, M. J. Rosenberg, and H. Zenick, eds.), p. 1, Liss, New York.Google Scholar
  40. Omenn, G. S., 1984c, A framework for risk assessment and surveillance, Teratog. Carcinogen. Mutagen. 4: 1.CrossRefGoogle Scholar
  41. Omenn, G. S., and Gelboin, H. (eds.), 1984, Genetic Variability in Responses to Chemical Exposure, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.Google Scholar
  42. Omenn, G. S., Hall, J. G., and Hansen, K. D., 1980, Genetic counseling for adoptees at risk for specified inherited disorders, Am. J. Med. Genet. 5: 157.PubMedCrossRefGoogle Scholar
  43. Pauker, S. G., Pauker, S. P., and McNeil, B. J., 1981, The effect of private attitudes on public policy: Prenatal screening for neural tube defects as a prototype, Med. Decision Making 1: 103.CrossRefGoogle Scholar
  44. President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research, 1983, Screening and Counseling for Genetic Conditions, A Report on the Ethical, Social, and Legal Implications of Genetic Screening, Counseling and Education Programs, Government Printing Office, Washington, D,C.Google Scholar
  45. Rowley, P. T., 1984, Genetic screening: Marvel or menace?, Science 225: 138.PubMedCrossRefGoogle Scholar
  46. Sadovnick, A. D., and Baird, P. A., 1981, A cost-benefit analysis of prenatal detection of Down syndrome and neural tube defects in older mothers, Am. J. Med. Genet. 10: 367.PubMedCrossRefGoogle Scholar
  47. Shepard, T. H., 1986, Catalog of Teratogenic Agents, 5th ed., Johns Hopkins University Press, Baltimore.Google Scholar
  48. Simpson, N. E., Dallaire, L., Miller, J. R., et al., 1976, Prenatal diagnosis of genetic disease in Canada: Report of a collaborative study, Can. Med. Assoc. J. 115: 739.PubMedGoogle Scholar
  49. Smith, M. R., Kimmel, G. L., Kochhar, D. M., et al., 1983, A selection of candidate compounds for invitro teratogenesis test validation, Teratogen. Carcinogen. Mutagen. 3: 461.CrossRefGoogle Scholar
  50. Society of Obstetricians and Gynaecologists of Canada, 1983, Canadian recommendations for prenatal diagnosis of genetic disorders, Bull. Soc. Obstet. Gynecol. Can. 5(5): 1.Google Scholar
  51. Sun, M., 1983, FDA draws criticism on prenatal test, Science 221: 440.PubMedCrossRefGoogle Scholar
  52. U. K. Collaborative Study on Alpha-Fetoprotein in Relation to Neural Tube Defects, 1977, Maternal serum alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy, Lancet 1: 1323.Google Scholar
  53. Vekemans, M., and Lippman, A., 1984, Eligibility criteria for amniocentesis, Am. J. Med. Genet. 17: 531.PubMedCrossRefGoogle Scholar
  54. Weinstein, M. C., and Stason, W. B., 1977, Foundation of cost-effectiveness analysis for health and medical practice, New Engl. J. Med. 296: 716.PubMedCrossRefGoogle Scholar
  55. WHO, 1983, Community control of hereditary anaemias: Memorandum from a WHO meeting, Bull. WHO 61(1):63.Google Scholar
  56. Woodhead, A. D., Shellabarger, C. J., Pond, V., et al., (eds.), 1985, Assessment of Risk from Low-LevelExposure to Radiation and Chemicals, Plenum Press, New York.Google Scholar

Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • Gilbert S. Omenn
    • 1
  1. 1.School of Public Health and Community Medicine and Departments of Medicine (Medical Genetics) and Environmental HealthUniversity of WashingtonSeattleUSA

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