Case Study: Genetic Disease
Instructions
A 32-year-old woman is concerned about the possibility of being pregnant. During the initial interview, you discover that she missed her usual menstrual cycle over 3 weeks ago. You also notice that her complexion is markedly tan for this time of the year (winter season). You briefly comment on this fact, and she states, “I want to keep my summer tan. So, I keep going to the tanning salon weekly.” She is here today to confirm the pregnancy with her primary care provider, and you are the nurse completing the initial interview. When asked if she has been taking a folic acid supplement, she states that she had “no concerns of pregnancy and was not aware of the need to take this medicine.” After she sees her primary care provider, he gives you the plan of care. The plan is to have a maternal serum marker test drawn today and recommend that she start on 600 μg of folic acid daily. In analyzing this case, please answer the following questions:
Discuss any teratogenic effect of this individual not taking a folic acid supplement. Explain what effect may occur on the developing fetus, identifying specific risks noted in this case.
Explain why the primary care provider included a maternal serum marker test in the plan of care for this individual.
Discuss the vulnerability of the fetus based on trimesters and teratogens and the role of the folic acid supplement.
Briefly discuss the how UVA and UVB rays contribute to the process of oncogenesis in skin cells.
How would you educate this individual on the risk of skin cancer related to increased exposure to UVA/UVB rays? Would you expect the primary care provider to perform a skin assessment during this visit? Why or why not?
For additional details, please refer to the Case Study Guidelines and Rubric document:
Prompt:
For each case study, be sure to:
• Introduce main elements and concerns and identify the pathology.
• Use the associated questions to guide your paper and explain the pathology in the development of a plan of care.
• Explain the role patient-care technologies (i.e., point of care testing, computer provider order entry, bar-coding medication administration, EMR/EHR) in
caring for the individual(s).
• Apply critical thinking in analyzing and interpreting the data.
• Include evidence to support your analysis of the case.
• Write clearly and concisely, following standard rules of grammar.
Guidelines for Submission: Your paper must be submitted as at least a 2-page Microsoft Word document with double spacing, 12-point Times New Roman font,
one-inch margins, and at least two peer-reviewed sources cited in APA format.
