Medical Genetics · MU Plovdiv

32. Prevention and therapy of hereditary pathology - basic approaches. Medical genetic consultation - essence, indications, tasks. Prenatal diagnosis - methods, indications.

Inside: 12 sections · 13 labelled pictures · 27 flashcards · 7 min

Topic 32 of 33 in the MU Plovdiv syllabus for Medical Genetics (Medicine, Year 4). The free AceMed note covers it in 12 sections, about 1,067 words (7 min of reading), with 27 flashcards.

In this note

  1. Introduction
  2. Genetic counseling
  3. I. Indications for genetic counseling
  4. II. Types of genetic counseling
  5. III. Basic steps in genetic counseling
  6. IV. Risk estimation in genetic counseling
  7. V. Role of genetic testing in counseling
  8. VI. Psychological and ethical aspects
  9. VII. Genetic counseling in special situations
  10. VIII. Limitations of genetic counseling
  11. Prevention and conventional therapy of hereditary disease
  12. Orphan drugs

Introduction

This topic covers medical genetic consultation (its essence, indications, tasks, steps, risk estimation and use of genetic testing, including prenatal counseling) and the basic approaches to prevention and conventional therapy of hereditary disease, including orphan drugs.

Genetic counseling

Genetic counseling is a communication process that aims to help individuals or families:

  • understand the medical, genetic, and psychosocial aspects of a genetic disorder,
  • assess risk of occurrence or recurrence,
  • make informed medical and reproductive decisions.

It integrates genetic knowledge with counseling principles, not just test interpretation.

Main goals

  • Provide accurate genetic information
  • Explain inheritance patterns and risks
  • Support autonomous decision-making
  • Reduce anxiety and misconceptions
  • Assist in coping with diagnosis or risk

I. Indications for genetic counseling

Genetic counseling is indicated whenever there is a known or suspected genetic risk. Common indications:

  • Family history of genetic disease
  • Congenital anomalies or dysmorphic features
  • Intellectual disability or developmental delay
  • Infertility or recurrent pregnancy loss
  • Abnormal prenatal screening results
  • Known carrier status
  • Advanced maternal age
  • Consanguinity

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