Nokea
The nurse informs the patient that genetic counseling and prenatal testing should be performed for all pregnant women in which age group?
- A. 18 to 21
- B. 40 and older
- C. 35 and older
- D. 18 and under
Correct Answer: C
Rationale: Women who are 35 years of age or older have an increasing chance of giving birth to infants with chromosomal differences, such as trisomy 21. For this reason, genetic counseling and prenatal testing are recommended for all pregnant women above this age.
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Based on this patients history, what recommendation should the nurse make at the present time?
- A. Instruct her to continue to try to get pregnant
- B. Let the patient know that her loss may not occur again
- C. Encourage her explore the possibility of chromosome testing studies
- D. Instruct her to have an amniocentesis with the next pregnancy
Correct Answer: C
Rationale: At the present time, the nurse should inform the woman about chromosome studies. Chromosome studies may be needed at any age, depending on the indication. Two common indications are a suspected diagnosis, such as Down syndrome, and a history of two or more unexplained pregnancy losses, which the woman has described. Instructing her to continue trying to get pregnant is redundant, and amniocentesis is a future consideration, not an immediate recommendation.
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.
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.
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.
What is the nurses best response?
- A. I am ethically bound to tell your family and your fianc.
- B. Your information will remain confidential until the geneticist reviews everything. Then he or she will have to tell your family.
- C. Have you thought about what this disease will do to the person you are going to marry and any children you may have?
- D. I will respect your wishes and keep your information confidential. I do wish you would reconsider though.
Correct Answer: D
Rationale: The nurse must honor the patient's wishes while explaining the potential benefit this information may have for other family members. Breaching confidentiality or suggesting mandatory disclosure by a geneticist is incorrect. Encouraging reflection is secondary to respecting confidentiality.