Genetic Counseling

1. Front Matter

   Pages i-xi

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2. Appearances Deceive

   • Walter Fuhrmann, Friedrich Vogel

   Pages 1-13

3. Recording a Family Medical History or Pedigree

   • Walter Fuhrmann, Friedrich Vogel

   Pages 14-17

4. The Autosomal Dominant Mode of Inheritance

   • Walter Fuhrmann, Friedrich Vogel

   Pages 18-24

5. New Mutations and Nonhereditary Cases (Phenocopies and Somatic Mutations)

   • Walter Fuhrmann, Friedrich Vogel

   Pages 25-35

6. The Autosomal Recessive Mode of Inheritance and Tests for the Detection of Heterozygotes

   • Walter Fuhrmann, Friedrich Vogel

   Pages 36-46

7. Sex-Linked Modes of Inheritance

   • Walter Fuhrmann, Friedrich Vogel

   Pages 47-51

8. How Can Additional Information Be Incorporated into Genetic Risk Calculations?

   • Walter Fuhrmann, Friedrich Vogel

   Pages 52-70

9. Chromosomal Aberrations

   • Walter Fuhrmann, Friedrich Vogel

   Pages 71-92

10. Malformations Not Subject to a Simple Mode of Inheritance

    • Walter Fuhrmann, Friedrich Vogel

    Pages 93-105

11. Prenatal Diagnosis of Genetic Abnormalities and Diseases

    • Walter Fuhrmann, Friedrich Vogel

    Pages 106-121

12. Other Diseases Without a Simple Mode of Inheritance

    • Walter Fuhrmann, Friedrich Vogel

    Pages 122-128

13. Mental Retardation and Mental Illness

    • Walter Fuhrmann, Friedrich Vogel

    Pages 129-139

14. Genetic Prognosis for a Consanguineous Marriage

    • Walter Fuhrmann, Friedrich Vogel

    Pages 140-147

15. Exposure to Mutagenic Noxes

    • Walter Fuhrmann, Friedrich Vogel

    Pages 148-152

16. Teratogenic Effects During Early Pregnancy

    • Walter Fuhrmann, Friedrich Vogel

    Pages 153-158

17. Psychological and Social Considerations

    • Walter Fuhrmann, Friedrich Vogel

    Pages 159-167

18. Back Matter

    Pages 169-188

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This third edition of Genetic Counseling has been thoroughly revised to reflect current practice. In particular, the chapter on prenatal diagnosis (Chapter 10) has been largely rewritten and considerably expanded, reflecting the rapid develop­ ment in this field and its increasing medical importance. This chapter provides a detailed description of the alpha-fetoprotein test and a brief description of ultrasonography for the diagnosis of morphologic defects. Further, we discuss fetoscopy and the sampling of fetal blood with the aid of a fetoscope. In this as in past editions, these descriptions are not meant as working instructions for actual practice, but rather as background for the general practitioner who is dealing with the problems of genetic counseling. We have added a chapter (Chapter 7) on the use of conditional probability (Bayes Principle) for the calculation of more exact specific risk figures. It is true that the daily practice of medicine sees far fewer situations in which these methods can reasonably be applied than some theoreticians like to think. However, the usefulness of these methods has recently increased, especially in cases of X-chromosomal recessive diseases where the termination of a preg­ nancy, if the fetus has been ascertained to be male and if the mother is "most probably" heterozygous, has become more commonplace. With such a trend, the degree of probability must be determined as exactly as possible.

• Chromosom
• Erbkrankheit
• Genetische Beratung
• Termination
• chromosome

• Institut für Humangenetik, Giessen, West Germany

  Walter Fuhrmann

• Institut für Anthropologie und Humangenetik, Heidelberg, West Germany

  Friedrich Vogel

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