Genetic counseling is a communication process that deals with human problems associated with the occurrence or risk of a genetic disorder in a family. Counseling involves genetic screening, whereby a high-risk or general population is analyzed to detect the presence of disease, and case finding for couples at potential risk based on medical/family histories. The process can be prospective (counseling delivered to a client/couple of reproductive age before conception or before the birth of an affected child), or it can be retrospective/postnatal (counseling delivered after the birth of an affected child). In many cases, however, the need for genetic counseling first becomes apparent during the first trimester.
1. Assist client/couple/family to recognize and understand specific situation.
2. Facilitate therapeutic use of informational resources.
3. Provide ongoing emotional support.
1. Copes effectively with situation
2. Completes counseling process
3. Understands information specific to individual situation
Nursing diagnosis: Anxiety related to presence of specific risk factors (e.g., history of genetic problem, exposure to teratogens), situational crisis, threat to self-concept (perceived/actual), conscious or unconscious conflict about essential values (beliefs) and goals of life possibly evidenced by increased tension, apprehension, uncertainty, feelings of inadequacy, or expressed concern regarding changes in life events, insomnia.
1. Acknowledge awareness of feelings of anxiety.
2. Verbalize realistic concerns related to process of genetic counseling/prenatal diagnosis.
3. Appear relaxed and report that anxiety is reduced to a manageable level.
4. Identify and use resources/support systems effectively.
Nursing care plan intervention and rationale:
1. Assess nature, source, and manifestations of anxiety.
Rationale: Identifies specific areas of concern and determines direction for and possible options/interventions.
2. Provide information about specific genetic disorder, risks involved in reproduction, and available prenatal diagnostic measures/options.
Rationale: May relieve anxiety associated with the unknown and assist family to cope with stress, make decisions, and adapt positively to choices. Note: A nursing diagnosis [ND]: Knowledge deficit large number of clients at risk of producing a child [Learning Need].) with a genetic abnormality do not receive prospective counseling/diagnostic services before conception because of ineffective case finding/lack of awareness and often enter counseling, during the first trimester or, retrospectively, after the birth of an affected child. New genetic research at the gene level will have future implications for diagnosis, carrier status, or prenatal detection of genetic disease. Some of the techniques used include restriction endonuclease, DNA probes, polymerase chain reaction (PCR), Southern blot, restriction fragment length polymorphisms (RFLPs)
3. Promote ongoing sharing of concerns/feelings.
Rationale: Opportunity for client/couple to begin resolution of situation. Note: Level of anxiety is usually higher in the couple who have already given birth to a child with a chromosomal disorder.
4. Review procedure and what to expect in terms discomfort if fetus is affected and couple elects
to terminate pregnancy and so on.
Rationale: Client/couple may be extremely anxious, guilt of ridden during uncomfortable procedure; information can enhance coping, reduce anxiety.
5. Visit couple after procedure. Provide anticipatory guidance in terms of physical/psychological changes.
Rationale: After abortion for genetic indications, follow-up visit by the primary nurse may help to reduce couple’s anxiety/depression.
6. Provide opportunity for discussion of test results on fetus and assist with interpretation of information, especially following abortion.
Rationale: Helps to confirm the diagnosis; reduces anxiety assoc iated with uncertainty of whether fetus was really affected and whether couple made the “right” choice.
7. Listen to expressions of concern/feelings about situation.
Rationale: When concerns and feelings are expressed/listened to, client needs can be identified more readily.
8. Refer for further counseling (e.g., psychiatric, group).
Rationale: Anxiety may not be resolved sufficiently, necessitating additional professional assistance.
9. Assist couple in identifying community agencies to aid in care of their newborn in the event that they elect to continue the pregnancy after fetus is found to be affected, or when diagnosis is made after delivery.
Rationale: Helps to reduce anxieties regarding how the couple will meet their baby’s special needs.