Nokea
Which of the following is the most important factor documented in the patients genetic history?
- A. Three generations of information about the family
- B. Current medications taken
- C. Health problems present in the womans children
- D. Immunizations received for the past three generations
Correct Answer: A
Rationale: A well-documented family history is a tool used by the health care team to make a diagnosis, identify teaching strategies, and establish a pattern of inheritance. The family history should include at least three generations, as well as information about the current and past health status of all family members, including the age of onset of any illnesses and cause of death and age at death. Medications and immunizations are part of the general health history, not specifically the genetic history.
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What would the nurse know about these two diseases?
- A. They are multifactorial.
- B. They are direct result of the patients lifestyle.
- C. They are caused by a single gene.
- D. They do not have a genetic basis.
Correct Answer: A
Rationale: Genomic or multifactorial influences involve interactions among several genes and between genes and the environment, as well as the individual's lifestyle. Heart disease and osteoarthritis are multifactorial, not caused by a single gene or solely lifestyle, and they do have a genetic basis.
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 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 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 should the nurse do?
- A. Call the patients brother and inform him of his risk for development of Alzheimers disease.
- B. Notify the geneticist and have him instruct the patient on his siblings and parents risk.
- C. Notify the siblings physicians about the patients risk for development of Alzheimers disease.
- D. Instruct the patient on the importance of notifying the siblings and keep his information confidential.
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 by contacting siblings or their physicians is unethical. Involving a geneticist may be helpful, but the primary action is to respect the patient's confidentiality while encouraging disclosure.