A client, G4 P4004, states that her husband has just been diagnosed with polycystic kidney disease (PKD), an autosomal dominant disease. The husband is heterozygous for PKD, while the client has no PKD genes. The client states, 'I have not had our children tested because they have such a slim chance of inheriting the disease. We intend to wait until they are teenagers to do the testing.' The nurse should base her reply on which of the following?

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Question 1 of 5

A client, G4 P4004, states that her husband has just been diagnosed with polycystic kidney disease (PKD), an autosomal dominant disease. The husband is heterozygous for PKD, while the client has no PKD genes. The client states, 'I have not had our children tested because they have such a slim chance of inheriting the disease. We intend to wait until they are teenagers to do the testing.' The nurse should base her reply on which of the following?

Correct Answer: B

Rationale: The correct answer is B) The children should be allowed to wait until they are adults to be tested. This response aligns with best practices in genetic counseling and testing for autosomal dominant diseases like PKD. Testing minors for genetic conditions that have adult-onset manifestations raises ethical concerns, as decisions about testing and potential future medical interventions should ultimately be made by the individual themselves when they are capable of understanding the implications. Option A is incorrect because the age of symptom onset in affected individuals is not relevant to the decision of when to test the children. Option C is incorrect because the client's statement does not necessarily indicate denial but rather a misunderstanding of the genetic risk. Option D is incorrect as the harmlessness of renal cysts does not impact the decision-making process about genetic testing. In an educational context, it is crucial for healthcare providers to understand the complexities of genetic counseling and testing in families with inherited conditions. Emphasizing the importance of respecting autonomy and age-appropriate decision-making in genetic testing is essential to ensure ethical and informed care for families facing genetic risks like PKD.

Question 2 of 5

A woman, who has undergone amniocentesis, has been notified that her baby is XX with a 14/21 robertsonian chromosomal translocation. The nurse helps the woman to understand which of the following?

Correct Answer: C

Rationale: Educational Rationale: The correct answer is C) Chromosomal translocations are common and rarely problematic. This option is correct because robertsonian translocations involve a rearrangement of genetic material between two acrocentric chromosomes, typically chromosomes 13, 14, 15, 21, or 22. In most cases, individuals with balanced robertsonian translocations do not exhibit any physical abnormalities or health issues. It is important for the woman to understand that this specific chromosomal rearrangement is a common occurrence and does not necessarily indicate serious genetic defects. Option A) The baby will have a number of serious genetic defects is incorrect because robertsonian translocations do not always result in genetic defects. Option B) It is likely that the baby will be unable to have children when she grows up is incorrect because the ability to have children is not necessarily impacted by a robertsonian translocation. Option D) An abortion will probably be the best decision under the circumstances is incorrect as it is not appropriate to recommend termination solely based on the presence of a robertsonian translocation, especially when it is not associated with severe genetic abnormalities. In an educational context, it is crucial for healthcare professionals to provide accurate information and support to individuals facing genetic testing results. Understanding the implications of specific chromosomal abnormalities can help individuals make informed decisions about their reproductive health and family planning. In this case, reassuring the woman about the common nature of robertsonian translocations can alleviate unnecessary anxiety and help her make well-informed choices moving forward.

Question 3 of 5

A woman asks the obstetrician's nurse about cord blood banking. Which of the following responses by the nurse would be best?

Correct Answer: B

Rationale: In this scenario, option B is the best response for the nurse to provide to the woman asking about cord blood banking. This is because it accurately explains the purpose of cord blood banking, which is to store the cord blood in case the baby develops a serious illness in the future that may require stem cell treatment. Option A is incorrect because it deflects the question and does not provide any useful information to the woman. Option C is incorrect as it provides inaccurate information about the use of cord blood for transfusions in accidents. Option D is also incorrect as it presents a biased opinion about the cost and utilization of cord blood banking, which may mislead the woman. Educationally, this question serves to test the nurse's knowledge on cord blood banking and their ability to provide accurate and helpful information to patients. It highlights the importance of clear communication in healthcare settings and the significance of understanding medical procedures for effective patient education and support.

Question 4 of 5

Analyze the pedigree below. Which of the following inheritance patterns does the pedigree depict?

Correct Answer: A

Rationale: In analyzing the provided pedigree, the correct inheritance pattern depicted is autosomal dominant (Option A). This conclusion can be drawn because the trait appears in every generation, affecting both males and females, which is characteristic of autosomal dominant inheritance. Autosomal dominant traits are expressed in individuals who have inherited a single copy of the mutated gene from an affected parent. This pattern does not skip generations and affects males and females equally. Mitochondrial inheritance (Option B) is not applicable in this pedigree as mitochondrial DNA is passed exclusively from the mother to all her offspring, resulting in a different pattern of inheritance compared to what is observed in the pedigree. X-linked recessive (Option C) inheritance would typically skip generations of males, as seen in the pedigree. Since the trait is present in every generation and affects males and females equally, X-linked recessive inheritance is not the correct pattern. Y-linked traits (Option D) are passed from fathers to all their sons. Since the pedigree shows both males and females being affected, this rules out Y-linked inheritance. Understanding inheritance patterns is crucial in medical genetics as it helps in predicting the likelihood of a genetic condition being passed on to offspring. Recognizing and interpreting pedigrees aids in genetic counseling and decision-making regarding family planning and reproductive options.

Question 5 of 5

Choose the correct instructions for a man who must provide a semen sample.

Correct Answer: C

Rationale: The correct answer is option C: Keep the sample near the body, and transport it to the laboratory within 1 hour. This is the correct instruction for a man providing a semen sample for fertility testing because sperm viability and motility can be affected by temperature changes. Keeping the sample close to the body helps maintain its temperature and ensures the accuracy of the analysis. Option A is incorrect because refrigerating the sample can lead to temperature fluctuations, which may compromise the quality of the sample. Option B is incorrect because while masturbation is the common method for obtaining a semen sample, there are other techniques available, such as using a special condom during intercourse. Option D is incorrect as it is not necessary to stop taking regularly scheduled medications unless advised by a healthcare provider, as some medications may indeed affect sperm quality. Educationally, it is crucial for individuals undergoing fertility testing to understand the proper procedures for sample collection to ensure accurate results. By providing clear instructions like keeping the sample close to the body and transporting it promptly, healthcare providers can help patients contribute to the success of their fertility evaluations.

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