genetic counseling

 Genetic counseling

Genetic counseling process follows these basic characteristics of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.

Or, 

The American society of human genetic define genetic counseling as a communication process, which deals with human problems associated with the occurance or the risk of occurance of a genetic disorder in a family.

Or, 

Smith (1955) defines counseling as a process in which the counselor assists the counselee to make interpretations of facts relating to a choice, plan or adjustments which he needs to make.

Indicators

1. Known or suspected hereditary disease in a patient or family.

2. Birth defects in previous children.

3. Mental retardation/ multiple malformation in a child

4. Advanced maternal age (older than 35 years)

5. Recurrent pregnancy loss (miscarriage)

6. Teratogens exposure during pregnancy

7. Identification of malformation by ultrasound

8. An amniocentesis yields unexpected results (such as chromosomal defect in the unborn baby).

9. The partner is blood relatives.

10. The mother has had two or more miscarriage or a baby dies in infancy.

Steps of Genetic Counseling

1. History

1. Proper record of history of patients

2. Includes both present and relevant past history

3. Family history includes; siblings and other relatives

4. Note if any family member or relative with similar problems.

5. Obstetrics history, includes; exposure to teratogens (drugs, X-rays) in pregnancy.

6. Record history of abortion or still birth, if any .

7. Pedigree charting; occurance and appearance of phenotype of particular gene.

8. Estimation of risk 

9. Transmitting information

Important factors involve;

1. Psychology of the patient

2. Emotional stress 

3. Attitude of family members towards patients.

4. Educational, social and financial background of the family

5. Ethical, moral and legal implications involved in the process.

6. Communication skills to transmit facts in an effective.

Management

Treatment directed towards minimizing the damage by early detection and preventing further irreversible damage.

Application of Genetic Counseling

1. Prenatal genetic counseling

2. Pediatric genetic counseling

3. Adult genetic counseling

1. Prenatal genetic counseling

1. If women age 35 years older or greater.

2. Prenatal tests that are offered during genetic counseling include;

1. Level ll ultrasound

2. Maternal serum AFP (alpha-Feto protein); blood test that measures amount of AFP present in blood.

3. Chorionic villus sampling (CVC)

Prenatal tests; used to detect birth defects, genetic disease during pregnancy.

4. Amniocentesis

Small amount of amniotic fluid is removed from sac surrounding fetus.

2. Pediatric Genetic Counseling

Recurrent pregnancy loss

Any child who is born with more than one defect, mental retardation or dysmorphic features; increase chance of having genetic syndrome.

A common type of mental retardation in males for which genetic testing is available; fragile X- syndrome (genetic condition causing intellectual disability).

3. Adult Genetic Counseling

Tested for presence of known genetic condition, exhibiting symptoms of inherited condition, or new diagnosis of adult with - onset disorder in family.

Birth of child with obvious features of genetic disease leads to diagnosis, mildly affected.

Role of Nurse in Genetic Counseling

1. Guiding women or couple through prenatal diagnosis.

2. Helping parents make decisions

3. Assisting parents who have had child with birth defect to locate needed service and support.

4. Providing support to help the family deal with the emotional impact of birth defect. (Psychologically support).

5. Advice screening testing

6. Educate the client about diseases

7. Guide advance maternal age consequences

8. Coordinated services with other professional; social worker, physical and. occupational therapist, psychologist, dietician.

9. Providing follow-up after genetic evaluation.