Human Genetics pp 711-732 | Cite as

Genetic Counseling and Prenatal Diagnosis. Human Genome Project

  • Friedrich Vogel
  • Arno G. Motulsky


The expanding knowledge in human genetics has led to practical applications at an increasing rate — especially in genetic counseling and genetic screening. These approaches are promoted to avoid unnecessary hardships for families today. However, widespread genetic counseling and genetic screening will also influence the genetic composition of future generations. More recently, molecular biology has provided increasingly efficient techniques for genetic diagnosis and therapy which will be described in Chap.18. Human geneticists need to consider whether these influences are beneficial or not. What will be the impact of all these new developments on the human species? These problems are considered in Chapter 19.


Down Syndrome Sickle Cell Anemia Prenatal Diagnosis Neural Tube Defect Recurrence Risk 
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. 1.
    Alter BP (1985) Antenatal diagnosis of thalassemia. a review. Ann N Y Acad Sci 445: 393–407Google Scholar
  2. 2.
    Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG (eds) (1994) Assessing genetic risks: implications for health and social policy. National Academy, WashingtonGoogle Scholar
  3. 3.
    Anonymous (1985) Maternal serum alpha-fetoprotein screening for neural tube defects. Results of a consensus meeting. Prenat Diagn 5: 77–83Google Scholar
  4. 4.
    Anton-Lamprecht I (1981) Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. Hum Genet 59: 392–405Google Scholar
  5. a. Becker R, Fuhrmann W, Holzgreve W, Sperling K (1995) Pränatale Diagnostik and Therapie. Wissenschaftliche Verlagsanstalt, StuttgartGoogle Scholar
  6. 5.
    Bloch EV, DiSalvo M, Hall BD, Epstein CJ (1979) Alternative ways of presenting empiric risks. Birth Defects 15 (5C)Google Scholar
  7. 6.
    Brambati B, Simoni G, Danesino C, Oldrini A, Ferrazzi E, Romitti L, Terzoli G, Rossella F, Ferrari M, Fraccaro M (1985) First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet 22: 92–99Google Scholar
  8. 6.
    a. Burke TD, Carle GF, Olsen MV (1987) Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. Science 236: 806–812PubMedCrossRefGoogle Scholar
  9. 7.
    Cao A, Rosatelli C, Galanello R et al (1989) The prevention of thalassemia in Sardinia. Clin Genet 36: 277–285Google Scholar
  10. 8.
    Capron AM, Lappe M, Murray RF, Powledge TM, Twiss SB, Bergsma D (eds) (1979) Genetic counselling: facts, values, and norms. Birth Defects 15 (2)Google Scholar
  11. 9.
    Carter CO, Fraser Roberts JA, Evans KA, Buck AR (1971) Genetic clinic: a follow-up. Lancet 1: 281Google Scholar
  12. 10.
    Collins F, Galas D (1993) A new five-year plan for the US human genome project. Science 262: 43–46Google Scholar
  13. 11.
    Crandall BF, Robertson RD, Lebherz TB, King W, Schroth PC (1983) Maternal serum a-fetoprotein screening for the detection of neural tube defects. West J Med 138: 531–534Google Scholar
  14. 12.
    Dalgaard OZ (1957) Bilateral polycystic disease of the kidneys. A follow-up of two-hundred and eighty-four patients and their families. Acta Med Scand Suppl 328Google Scholar
  15. 13.
    Davis JR, Rogers BB, Hageman RM, Thies CA, Veomett IC (1985) Balanced reciprocal translocations: risk factors for aneuploid segregant viability. Clin Genet 27: 1–19Google Scholar
  16. 14.
    Epstein CJ, Curry CJR, Packman S, Sherman S, Hall BD (eds) (1979) Risk, communication, and decision making in genetic counseling. Birth Defects 15 (5C)Google Scholar
  17. 15.
    Epstein CJ, Cox DR, Schonberg SA, Hogge WA (1983) Recent developments in the prenatal diagnosis of genetic diseases and birth defects. Annu Rev Genet 17: 49–83Google Scholar
  18. 16.
    Erbe RW (1975) Screening for the hemoglobinopathies. In: Milunsky A (ed) The prevention of genetic disease and mental retardation. Saunders, Philadelphia, pp 204–220Google Scholar
  19. 17.
    Evers-Kiebooms G, van den Berghe H (1979) Impact of genetic counseling: a review of published follow-up studies. Clin Genet 15: 465–474Google Scholar
  20. 18.
    Fletcher JC, Berg K, Tranoy KE (1985) Ethical aspects of medical genetics. A proposal for guidelines in genetic counseling, prenatal diagnosis and screening. Clin Genet 27: 199–205Google Scholar
  21. 19.
    Fuhrmann W, Vogel F (1983) Genetic counseling, 3 rd edn. Springer, Berlin Heidelberg New York (Heidelberg science library 1o )CrossRefGoogle Scholar
  22. 20.
    Fuhrmann W, Weitzel HK (1985) Maternal serum alphafetoprotein screening for neural tube defects. Report of a combined study in Germany and short overview on screening populations with low birth prevalence of neural tube defects. Hum Genet 69: 47–61Google Scholar
  23. 21.
    Galen RS, Gambino SR (1975) Beyond normality: the predictive value and efficiency of medical diagnoses. Wiley, New YorkGoogle Scholar
  24. 22.
    Harper PS (1993) Practical genetic counseling, 4 th edn. Wright, BristolGoogle Scholar
  25. 23.
    Hausser I, Anton-Lamprecht I (1990) Prenatal diagnosis of genodermatoses by ultrastructural diagnostic markers in extra-embryonic tissues. Defective hemidesmosomes in amnion epithelium of fetuses affected with apidermolysis bullosa Herlitz type (an alternative prenatal diagnosis in certain cases). Hum Genet 85: 367–375Google Scholar
  26. 24.
    Hellerman JG, Cone RC, Potts JT, Rich A, Mulligan RC, Kronenberg HM (1984) Secretion of human parathyroid hormone from rat pituitary cells infected with a recombinant retrovirus encoding preproparathyrpoid hormone. Proc Natl Acad Sci USA 81: 5340–5344Google Scholar
  27. 25.
    Holmes LB (1978) Genetic counseling for the older pregnant woman: new data and questions. N Engl J Med 298: 1419–1421Google Scholar
  28. 26.
    Holtzman NA, Leonard CO, Farfel MR (1981) Issues in antenatal and neonatal screening and surveillance for hereditary and congenital disorders. Annu Rev Public Health 2: 219–251Google Scholar
  29. 27.
    Hubbard and Wald (1993) Exploding the gene myth. Beacon, BostonGoogle Scholar
  30. 28.
    Inman RP (1978) On the benefits and costs of genetic screening. Am J Hum Genet 30: 219–223Google Scholar
  31. 29.
    Jackson LG (1985) First-trimester diagnosis of fetal genetic disorders. Hosp Pract 20: 39–48Google Scholar
  32. 30.
    Kaback MM (ed) (1977) Tay-Sachs disease: screening and prevention. Liss, New YorkGoogle Scholar
  33. 31.
    Kaback MM, Zeiger RS, Reynolds LW, Sonneborn M (1974) Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet to: 103–134Google Scholar
  34. 32.
    Kazazian HH Jr, Boehm CD, Dowling CE (1985) Prenatal diagnosis of hemoglobinopathies by DNA analysis. Ann N Y Acad Sci 445: 337–368Google Scholar
  35. 33.
    Kessler S (1980) The psychological paradigm shift in genetic counseling. Soc Biol 27: 167–185Google Scholar
  36. 34.
    Leonard C, Chase G, Childs B (1972) Genetic counseling: a consumer’s view. N Engl J Med 287: 433PubMedCrossRefGoogle Scholar
  37. 35.
    Levy HL (1974) Genetic screening. Adv Hum Genet 4: 1Google Scholar
  38. 36.
    Lippman-Hand A, Fraser FC (1979) Genetic counseling - the postcounseling period. I. Parents’ perceptions of uncertainty. Am J Med Genet 4: 51–71Google Scholar
  39. 37.
    Lippman-Hand A, Fraser FC (1979) Genetic counseling–the postcounseling period. II. Making reproductive choices. Am J Med Genet 4: 73–87Google Scholar
  40. 38.
    McKusick VA (1995) Mendelian inheritance in man, 11th edn. Johns Hopkins University Press, BaltimoreGoogle Scholar
  41. • Mibashan RS, Rodeck CH (1984) Haemophilia and other genetic defects of haemostasis. In: Rodeck CH, Nicolaides KH (eds) Prenatal diagnosis. Wiley, ChichesterGoogle Scholar
  42. 40.
    Milunsky A (1975) The prevention of genetic disease and mental retardation. Saunders, PhiladelphiaGoogle Scholar
  43. 41.
    Modell B (1984) Haemoglobinopathies - diagnosis by fetal blood sampling. In: Rodeck CH, Nicolaides KH (eds) Prenatal diagnosis. Wiley, ChichesterGoogle Scholar
  44. 42.
    Modell B (1985) Chorionic villus sampling. Evaluation, safety and efficacy. Lancet 1: 737–740Google Scholar
  45. 43.
    Motulsky AG (1973) Screening for sickle-cell hemoglobinophathy and thalassemia. Isr J Med Sci 9: 1341–1349Google Scholar
  46. 44.
    Motulsky AG (1975) Problems of screening for genetic disease. In: Went L, Vermeij-Keers C, van der Linden AGJM (eds) Early diagnosis and prevention of genetic disease. University of Leiden Press, Leiden, pp 132–140CrossRefGoogle Scholar
  47. 45.
    Motulsky AG (1975) Family detection of genetic disease. In: Went L, Vermeij-Keers C, van der Linden AGJM (eds) Early diagnosis and prevention of genetic disease. University of Leiden Press, Leiden, pp lot-110Google Scholar
  48. 46.
    Motulsky AG, Murray J (1983) Will prenatal diagnosis with selective abortion affect society’s attitude toward the handicapped? In: Berg K, Tranoy KE (eds) Research ethics. Liss, New York, pp 277–291Google Scholar
  49. 46.
    a. Motulsky AG (1994) Predictive genetic diagnosisGoogle Scholar
  50. 47.
    Murphy EA, Chase GA (1975) Principles of genetic counseling. Year Book Medical Publishers, ChicagoGoogle Scholar
  51. 48.
    National Research Council (1988) Mapping and sequencing the human genome. National Academy, WashingtonGoogle Scholar
  52. 49.
    National Research Council Committee for the Study of Inborn Errors of Metabolism (1975) Genetic screening: programs, principles, and research. National Academy of Sciences, WashingtonGoogle Scholar
  53. 50.
    Nelson WB, Swint JM, Caskey CT (1978) An economic evaluation of a genetic screening program for Tay-Sachs disease. Am J Hum Genet 30: 160–166Google Scholar
  54. 51.
    Olson MV (1993) The human genome project. Proc Natl Acad Sci USA 90 : 4338-4344Google Scholar
  55. 52.
    President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (1983) Screening and counseling for genetic conditions. The ethical, social, and legal implications of genetic screening, counseling, and education program. US Government Printing Office, WashingtonGoogle Scholar
  56. 53.
    Reeders ST et al (1986) Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. BMJ 292: 851–853PubMedCrossRefGoogle Scholar
  57. 54.
    Ried T, Mahler V, Vogt P et al (1990) Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus. Hum Genet 85: 581–586Google Scholar
  58. 55.
    Robinson A (1985) Prenatal diagnosis by amniocentesis. Annu Rev Med 36: 13–16Google Scholar
  59. 56.
    Rodeck CH (1984) Obstetric techniques in prenatal diagnosis. In: Rodeck CH, Nicolaides KH (eds) Prenatal diagnosis. Wiley, ChichesterGoogle Scholar
  60. 57.
    Rüdiger HW, Vogel F (1992) Die Bedeutung der genetischen Disposition für Risiken in der Arbeitswelt. Dtsch Arztebl 89: 1010–1o18Google Scholar
  61. 58.
    Scriver CR, Clow CL (1980) Phenylketonuria and other phenylalanine hydroxylase mutants in man. Annu Rev Genet 14: 179–202Google Scholar
  62. 59.
    Simoni G, Brambati B, Danesino C, Terzoli GL, Romitti L, Rossella F, Fraccaro M (1984) Diagnostic application of first trimester trophoblast sampling–loo pregnancies. Hum Genet 66: 252–259Google Scholar
  63. 60.
    Sorenson JR, Swazey JP, Scotch NA (eds) (1981) Reproductive pasts reproductive futures. Genetic counselling and its effectiveness. Birth Defects 17 (4)Google Scholar
  64. 61.
    Ton CCT, Hirvonen H, Miwa H et al (1991) Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell: 10591074Google Scholar
  65. 62.
    Veal AM (1965) Intestinal polyposis. Cambridge University Press, London (Eugenics laboratory memoirs 40 )Google Scholar
  66. 63.
    Ward RHT (1984) First trimester chorionic villus sampling. In: Rodeck CH, Nicolaides KH (eds) Prenatal diagnosis. Wiley, ChichesterGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Friedrich Vogel
    • 1
  • Arno G. Motulsky
    • 2
  1. 1.Institut für Humangenetik und AnthropologieHeidelbergGermany
  2. 2.Division of Medical Genetics, School of MedicineUniversity of WashingtonSeattleUSA

Personalised recommendations