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Chapter 11. Prevention of hereditary pathology

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Clinical genetics

Оглавление

List of symbols and abbreviations

Chapter 1. Introduction to clinical genetics +

Chapter 2. Heredity and pathology +

Chapter 3. Semiotics and clinical diagnostics of inherited diseases +

Chapter 4. Genetic diseases +

Chapter 5. Chromosomal disorders +

Chapter 6. Diseases with hereditary predisposition +

Chapter 7. Ecological genetics +

Chapter 8. Pharmacogenetics +

Chapter 9. Laboratory diagnostic methods +

Chapter 10. Guidelines for treatment of hereditary diseases +

Chapter 11. Prevention of hereditary pathology -

The burden of hereditary pathology in medical in social aspects

Genetic basis for the prevention of hereditary pathology

General provisions

Primary prevention

Secondary prevention

Tertiary prevention

Control of Gene Expression

Elimination of embryos and fetuses with hereditary pathology

Genetic engineering at the germline level

Family planning

Environmental protection

Medical genetic counseling

General provisions

Geneticist responsibilities

Prognosis for progeny

Conclusion and recommendations for genetic counseling

Organizational issues

Analysis of the intensity of the population’s requests for genetic counseling

The effectiveness of medical genetic counseling

Prenatal diagnostics

Screening of pregnant women by the determination of biochemical markers (sieving methods)

Invasive methods

Preimplantation diagnostics

Preclinical diagnosis, screening programs and preventive treatment

Phenylketonuria

Congenital hypothyroidism

Congenital adrenal hyperplasia

Cystic fibrosis

Keywords and concepts

Recommended bibliography

Chapter 12. Ethical issues in medical genetics +

Test questions +