For what health problem would this couple be genetically screened?
- A. Huntington disease
- B. Trisomy 21
- C. Alzheimers disease
- D. Canavan disease
Correct Answer: D
Rationale: People of Ashkenazi Jewish descent are screened for conditions such as Tay-Sachs disease and Canavan disease due to higher prevalence in this population. The other conditions are not specifically associated with this group.
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What action should a nurse who practices in the area of genetics prioritize?
- A. Teaching families about the different patterns of inheritance
- B. Gathering relevant family and medical history information
- C. Providing advice on termination of pregnancy
- D. Discouraging females from conceiving after the age of 40 years
Correct Answer: B
Rationale: The nurse's role in genetic counseling is to provide information, collect relevant data, offer support, and coordinate resources. Gathering family and medical history is a priority to establish patterns of inheritance and assess risks, unlike the other options, which are either inappropriate or secondary.
What should the nurse practitioner tell them about cystic fibrosis?
- A. It is an autosomal dominant disorder.
- B. It is passed by mitochondrial inheritance.
- C. It is an X-linked inherited disorder.
- D. It is an autosomal recessive disorder.
Correct Answer: D
Rationale: Cystic fibrosis is autosomal recessive. People who are related have more genes in common than those who are unrelated, thus increasing their chance for having children with autosomal recessive conditions like cystic fibrosis if both are carriers. It is not autosomal dominant, mitochondrial, or X-linked.
What is the nurses best response?
- A. We always get old medical records just in case we need them.
- B. This is just part of the due diligence that we practice here at the clinic.
- C. Your medical information is needed so we can provide the appropriate information and counseling to you.
- D. We need your medical records in case there is something about your medical history that you forget to tell us.
Correct Answer: C
Rationale: Nurses obtain patient consent to obtain medical records to ensure appropriate information and counseling, including risk interpretation, are provided. Vague responses like â??just in case' or â??due diligence' do not adequately explain the need for medical records.
For what health problem would a patient of African American heritage most likely have genetic carrier testing?
- A. Meckels diverticulum
- B. Sickle cell anemia
- C. Huntington disease
- D. Rubella
Correct Answer: B
Rationale: Assessing ancestry and ethnicity is important to help identify individuals who could benefit from genetic testing for carrier identification, such as African Americans routinely offered testing for sickle cell anemia. The other conditions are not specifically associated with African American heritage.
What is an essential component of care for this patient?
- A. Assist the patient in determining signs of neuromuscular weakness
- B. Instruct the man on treatment options for Huntington disease
- C. Teach the man how to avoid passing Huntington disease to his own children
- D. Provide genetic counseling, evaluation, and testing for the disease
Correct Answer: D
Rationale: The provision of genetic counseling, evaluation, and testing for the disease is essential in care, especially given the family history of Huntington disease. This encompasses assessing risks to offspring and addressing symptoms, making it the most comprehensive option.
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