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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.
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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 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.
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.
This model for presymptomatic testing is most likely being used to address what disease?
- A. Alzheimers disease
- B. Huntington disease
- C. Tay-Sachs disease
- D. Sickle cell disease
Correct Answer: B
Rationale: Huntington disease has served as the model for presymptomatic testing because the presence of the genetic mutation predicts disease onset and progression. This is not typically the case for Alzheimer's, Tay-Sachs, or sickle cell disease with current testing technologies.
What should the nurse do?
- A. Inform the patients they need to sign so the testing can be done
- B. Inform the geneticist that the couple cannot give informed consent
- C. Let the wife translate the form for her husband
- D. Explain the form to the patient in simple English and have him sign it
Correct Answer: B
Rationale: Nurses assess the patient's capacity and ability to give voluntary consent. Language differences prevent the husband from giving informed consent without a translator. Having the wife translate or explaining in simple English does not ensure accurate understanding, and signing without comprehension is unethical.