A couple has been told that the male partner, who is healthy, is producing no sperm 'because he has cystic fibrosis.' Which of the following explanations is accurate in relation to this statement?

Correct Answer: B

Rationale: The correct answer is B) he could not possibly have cystic fibrosis. This is because cystic fibrosis is an autosomal recessive genetic disorder that primarily affects the lungs and digestive system. It does not directly cause male infertility by inhibiting sperm production. The male partner's infertility is likely due to another unrelated factor. Option A is incorrect because the man can still have cystic fibrosis even if he appears healthy. C) Men with cystic fibrosis often have no epididymis is incorrect as cystic fibrosis does not directly cause absence of the epididymis. D) The expressivity of cystic fibrosis is variable is also incorrect as it refers to the range of symptoms that may be present in individuals with the same genetic condition, which is not relevant to the infertility issue in this case. In an educational context, it is important to understand the genetic basis of cystic fibrosis and its effects on the body. This question highlights the need for a comprehensive understanding of genetic disorders and their implications on reproductive health. It also underscores the importance of considering all possible factors when investigating infertility in couples.

Correct Answer: A

Rationale: The correct response for the nurse to make in this scenario is option A) Because Duchenne muscular dystrophy is inherited through the woman. This response is appropriate because Duchenne muscular dystrophy is an X-linked recessive disorder, meaning the gene responsible for the condition is located on the X chromosome. Since males have only one X chromosome (inherited from their mother), they are more likely to be affected by X-linked recessive disorders like Duchenne muscular dystrophy. Females, on the other hand, have two X chromosomes, so they would need to inherit the defective gene from both parents to be affected. Option B) advising the individual to see a genetic counselor is a valid response as well, as genetic counseling can provide more personalized information and guidance based on the individual's specific situation and family history. Option C) stating that Duchenne muscular dystrophy usually occurs as a spontaneous mutation and is unlikely that the fetus is affected is incorrect. While spontaneous mutations can occur, Duchenne muscular dystrophy is primarily an inherited genetic condition. Option D) indicating that the child could acquire Duchenne muscular dystrophy only if both parents carry the gene and advising to check the husband's family history is incorrect as it oversimplifies the inheritance pattern of X-linked recessive disorders like Duchenne muscular dystrophy. In an educational context, it is crucial for healthcare professionals to have a deep understanding of genetic disorders and their inheritance patterns to provide accurate information and support to individuals and families. By explaining the correct inheritance pattern of Duchenne muscular dystrophy, nurses can empower individuals to make informed decisions about genetic testing, family planning, and seeking appropriate medical care.

Correct Answer: C

Rationale: The most appropriate reply for the nurse to make in this scenario is option C: "Although diabetes does have a genetic component." This response is correct because it acknowledges the genetic link to diabetes while also highlighting that genetics alone do not determine the development of the condition. It emphasizes the complex interplay between genetic predisposition and environmental factors in the manifestation of diabetes. Option A is incorrect because while it is true that amniocentesis is not used to detect diabetes specifically, the question pertains to genetic counseling, not diagnosis. Option B is incorrect as it oversimplifies the relationship between genes and diabetes, disregarding the known genetic component of the condition. Option D is incorrect as it focuses solely on lifestyle factors influencing diabetes risk, neglecting the importance of genetic predisposition. In an educational context, it is essential to understand the multifactorial nature of complex conditions like diabetes. Genetic counseling aims to provide individuals with information about their genetic risks, empowering them to make informed decisions. By choosing option C, the nurse acknowledges the role of genetics in diabetes while also emphasizing the need to consider other factors in disease development. This nuanced understanding is crucial in guiding individuals through the complexities of genetic testing and counseling.

Correct Answer: A

Rationale: In this scenario, the correct answer is option A, the woman's fetus. This is because the woman is carrying an autosomal dominant gene for a serious late adult-onset disease, which means there is a 50% chance that she will pass this gene to her offspring. As the fetus would potentially inherit this gene and be at risk of developing the disease in the future, genetic counseling is crucial to inform the parents about the risks and potential implications for their child. Options B, C, and D are not considered high risk and in need of genetic counseling in this specific case. The woman's sisters, brothers, and parents may have a 50% chance of inheriting the gene like any other family member, but they are not directly carrying a fetus that would be impacted by the gene. Genetic counseling for the woman's relatives would be more about understanding their own risk and options rather than immediate implications for a developing fetus. Educationally, this question highlights the importance of genetic evaluations in family planning and the significance of understanding the inheritance patterns of genetic conditions. It underscores the need for targeted genetic counseling based on individual family members' risks and the potential impact on future generations. Understanding these concepts is crucial for healthcare professionals involved in reproductive health and genetic counseling to provide informed and supportive care to individuals and families facing genetic challenges.

Correct Answer: D

Rationale: In this pedigree analysis question, the correct answer is D) Known heterozygotes. In a pedigree chart, circles represent females, squares represent males, shaded symbols indicate the presence of a particular trait, and horizontal lines connecting a male and a female represent a mating. In this case, individuals IV-9 and IV-10 are siblings (same parents), both unaffected carriers of a genetic disease, which is represented by the shaded symbols in the pedigree. Option A) Fraternal twins: This option is incorrect as the individuals in question are siblings but not necessarily twins. Option B) Unaffected couple: This option is incorrect as the individuals are carriers of a genetic disease, not unaffected. Option C) Proband and sister: This option is incorrect as the proband is usually the individual from whom a genetic study originates, and in this case, the proband is not specified in the question. Educationally, understanding how to interpret pedigree charts is crucial in genetic counseling and healthcare to trace the inheritance patterns of genetic diseases within families. It helps in identifying carriers, affected individuals, and predicting the risk of passing on genetic conditions to future generations.