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A male with mild hemophilia asks the nurse, 'Will my children have hemophilia?' Which of the following responses by the nurse is most appropriate?
- A. All of your children will be at risk for hemophilia.
- B. Hemophilia is a multifactorial inherited condition.
- C. Only your male children are at risk for hemophilia.
- D. Your female children will be carriers for hemophilia.
Correct Answer: D
Rationale: Because hemophilia is caused by a mutation of the X-chromosome, all female children of a man with hemophilia are carriers of the disorder and can transmit the mutated gene to their offspring. Sons of a man with hemophilia will not have the disorder. Hemophilia is caused by a genetic mutation and is not a multifactorial inherited condition.
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The parents of a child with brachydactyly ask if their next child will also be affected. Which of the following is the basis for the nurses' response related to autosomal dominant disorders?
- A. There is a 25% chance that the child will be affected.
- B. All male offspring are affected.
- C. There is a 50% chance that the child will be affected.
- D. All female offspring will be affected.
Correct Answer: C
Rationale: Brachydactyly is an autosomal dominant disorder, meaning that there is a 50% chance that offspring will be affected. It happens equally in males and females.
A pregnant patient with a family history of cystic fibrosis (CF) asks the emergency department nurse for information about genetic testing. Which of the following actions is most appropriate for the nurse to take?
- A. Refer the patient to a qualified genetic counsellor.
- B. Ask the patient why genetic testing is important to her.
- C. Remind the patient that genetic testing has many social implications.
- D. Tell the patient that cystic fibrosis is an autosomal-recessive disorder.
Correct Answer: A
Rationale: Although the nurse should understand basic genetics, the emergency department is often not the ideal environment for genetic counselling. A genetic nurse or counsellor is best qualified to address the multiple issues involved in genetic testing for a patient who is considering having children. Although genetic testing does have social implications, a pregnant patient will be better served by a genetic counsellor who will have more expertise in this area. CF is an autosomal-recessive disorder, but the patient might not understand the implications of this statement. Asking why the patient feels genetic testing is important may imply to the patient that the nurse is questioning her value system regarding issues such as abortion.
When taking a family history in the genetic clinic, the nurse will ask information about how many generations in the past?
- A. 2
- B. 3
- C. 4
- D. 5
Correct Answer: B
Rationale: A detailed three-generation family history, or pedigree, offers great insight into possible genetic conditions within a family.
A patient whose mother has diagnosed with BRCA gene-related breast cancer asks the nurse, 'Do you think I should be tested for the gene?' Which of the following responses by the nurse is most appropriate?
- A. In most cases, breast cancer is not caused by the BRCA gene.
- B. It depends on how you will feel if the test is positive for the BRCA gene.
- C. There are many things to consider before deciding to have genetic testing.
- D. You should decide first whether you are willing to have a double mastectomy.
Correct Answer: C
Rationale: Although presymptomatic testing for genetic disorders allows patients to take action (such as mastectomy) to prevent the development of some genetically caused disorders, patients also need to consider that test results in their medical file may impact other areas of their life. Telling a patient that a decision about mastectomy should be made before testing implies that the nurse has made a judgment about what the patient should do if the test is positive. Although the patient may need to think about her reaction if the test is positive, other issues also should be considered. Although most breast cancers are not related to BRCA gene alterations, the patient with the gene alteration has a markedly increased risk for breast cancer.
The nurse is counselling a couple in which the man has an autosomal recessive disorder, and the woman has no gene for the disorder. The nurse uses Punnett squares to show the couple that the probability of their having a child with the disorder is which of the following percentages?
- A. 0%
- B. 25%
- C. 50%
- D. 75%
Correct Answer: A
Rationale: When one parent has no gene for an autosomal recessive disorder, the children will not display the characteristics of the disorder. However, the children will be carriers of the autosomal recessive disorder.