Nokea
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.
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What factor describes the etiology of this genetic change?
- A. The mother also has genetic mutation of chromosome 21.
- B. The patient has a nondisjunction occurring during meiosis.
- C. During meiosis, a reduction of chromosomes resulted in 23.
- D. The patient will have a single X chromosome and infertility.
Correct Answer: B
Rationale: During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains either two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to trisomy. Down syndrome is an example of trisomy. The mother does not have a mutation of chromosome 21, which is indicated in the question. Also, trisomy does not produce a single X chromosome and infertility.
Based on the nurses knowledge of neurofibromatosis, the nurse understands that a single family member has which of the following?
- A. A spontaneous mutation
- B. A germline mutation
- C. A nondisjunction
- D. A monosomy
Correct Answer: A
Rationale: Spontaneous mutations take place in individual oocytes or sperm at the time of conception. These mutations are not inherited in other family members. However, a person who carries the new spontaneous mutation may pass on the mutation to his or her children. Achondroplasia, Marfan syndrome, and neurofibromatosis type 1 are examples of genetic conditions that may occur in a single family member as a result of spontaneous mutation. Germline mutations are passed on to all daughter cells when body cells replicate. Nondisjunction and monosomy are related to chromosomal abnormalities, not single gene mutations like neurofibromatosis.
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.
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.
What could the nurse do to disseminate information about screening to more individuals?
- A. Plan a health fair for the employees that provides information about screening for diseases that have an inheritance pattern.
- B. Refer each employee over the age of 50 to a gastroenterologist.
- C. Create a Web site on diet and exercise as it relates to the prevention of colon cancer in people over 50.
- D. Place brochures in the nurses facility for the employees to access in answering their questions.
Correct Answer: A
Rationale: The advantage of a health fair is that it will provide information on all age-related diseases and the prevention of disease, including those with genetic components like colon cancer. Referring all employees over 50 to a gastroenterologist is impractical, and a website or brochures may not reach as many people effectively as a health fair.