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When planning this couples follow-up counseling, the nurse should recognize what implication of this assessment finding?
- A. There is a 25% chance that a child of the couple would have sickle cell disease.
- B. The man and woman each have an increased risk of developing sickle cell disease later in life.
- C. There is 50% risk of sickle cell disease for each of the couples children.
- D. Their childrens risk of sickle cell disease will depend on a combination of genetics and lifestyle factors.
Correct Answer: A
Rationale: Sickle cell anemia follows an autosomal recessive pattern of inheritance. When carriers have children together, there is a 25% chance that each child may inherit the gene mutation from both parents and have the condition. Carriers do not develop the disease, and lifestyle factors do not directly influence this mendelian inheritance pattern.
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When performing an assessment in this care setting, the nurse would focus on what areas of assessment? Select all that apply.
- A. Assessing patients personality strengths and weaknesses
- B. Performing assessments of patients patterns of behavior
- C. Assessing the genetic characteristics of patients blood samples
- D. Gathering family histories and health histories
- E. Performing comprehensive physical assessments
Correct Answer: D,E
Rationale: Nurses obtain genetics information by gathering family and health histories and conducting physical and developmental assessments. Behavior, personality, and blood sample analysis are not typically part of the nurse's role in this context.
What is important for the nurse to explain to the couple?
- A. Retinoblastoma is an autosomal recessive inheritance in which each parent carries the gene mutation.
- B. Retinoblastoma is an X-linked inheritance and all males inherit an X chromosome from their mothers.
- C. Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance and can skip a generation.
- D. Retinoblastoma is a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition.
Correct Answer: C
Rationale: Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance, and the gene appears to skip a generation, thus leading to errors in interpreting family history and in genetic counseling. Autosomal recessive conditions have a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition. X-linked conditions may be inherited in recessive or dominant patterns, but retinoblastoma is not X-linked.
Based on the husbands statement, what nursing diagnosis most likely applies to the wife?
- A. Situational low self-esteem related to reluctance to have genetic testing
- B. Powerlessness related to results of genetic testing
- C. Ineffective health maintenance related to reluctance to have genetic testing
- D. Anxiety related to possible results of genetic testing
Correct Answer: D
Rationale: The husband's statement suggests that the wife is anxious or fearful of obtaining bad news from genetic testing. This aligns with a nursing diagnosis of anxiety, rather than low self-esteem, powerlessness, or ineffective health maintenance, which are less directly supported by the statement.
According to this legislation, insurers may use genetics testing as a justification for what action?
- A. Denying the patient health insurance
- B. Charging the patient higher insurance premiums
- C. Requiring the patient to enroll in Medicaid
- D. Requiring the patient to carry out a health promotion plan
Correct Answer: B
Rationale: HIPAA prohibits the use of genetics information to establish insurance eligibility. However, it does not prohibit group plans from increasing premiums, excluding coverage for a specific condition, or imposing a lifetime cap on benefits. Mandating Medicaid enrollment or health promotion plans is not allowed.
The nurse recognizes that this greatly increases the couples risk of what health problems?
- A. Diseases that have a multifactorial pattern of inheritance
- B. Diseases with autosomal recessive inheritance
- C. Autosomal dominant disease
- D. X-linked diseases
Correct Answer: B
Rationale: Consanguinity is a major risk factor for autosomal recessive diseases because related individuals share more genes, increasing the likelihood of both parents being carriers. This is less significant for multifactorial, autosomal dominant, or X-linked diseases.