NUR 315 Case Study: Genetic Disease
NUR 315 Case Study: Genetic Disease
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 – NUR 315 Case Study: Genetic Disease:
- 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.
NUR 315 Case Study: Genetic Disease
Today, A 32-year-old woman arrived to the doctor’s office where I work as Registered Nurse, she is concerned with the possibility of being pregnant. When I had the initial interview with her, she revealed to me that she missed her usual menstrual cycle over 3 weeks ago. A markedly tan complexion is noticed on this woman for this time of the year that is winter season. She told me that she wants to keep her summer tan. So, she keeps going to the tanning salon weekly. I asked if she was taking a folic acid supplement and she said that she was not concerned of pregnancy and she was not aware of the need to take the medicine. After she saw her primary care provider, The doctor decided to order a maternal serum marker test to be drawn today and recommended that the patient begins a regiment of 600 μg of folic acid daily.
“Teratogenic agents cause approximately 7% of congenital malformations. A teratogenic agent is a chemical, infectious agent, physical condition, or deficiency that, on fetal exposure, can alter fetal morphology or subsequent function. Teratogenicity depends upon the ability of the agent to cross the placenta” (Chung, 2004). The fetus is vulnerable to teratogens agents immediately it fuses to the uterus. The fertilized egg is implanted to the uterus 10 to 14 days after fertilization. Vulnerability to teratogens agents is high after implantation simply because the growing embryo has access to the maternal blood supply. Teratogens can easily affect the embryo in its various growth phases with areas mostly affected being the organ systems and the brain. A teratogen that affects the closure of the neural tube can for instance lead to defects if exposure occurs between the first 3.5 to 4.5 weeks as it is during this time that closure occurs. “Folic acid plays an important role in the closure of the neural tube hence its importance during this time” (Children’s Hospital Wisconsin, 2019). It is in fact recommended that women of child bearing age take folic acid supplements whether they are planning to get pregnant or not. This is mainly because of the risk of unwanted pregnancies and the possibility for late detection of pregnancy. Alcohol is discouraged during pregnancy because of its effects on the fetal central nervous system (FCNS) (Children’s Hospital Wisconsin, 2019). This system is continually developing hence the need to avoid alcohol during pregnancy. It is one of the most common teratogens that parents can introduce to their growing fetuses during pregnancy. In addition, some medications contain teratogens that can adversely affect a growing fetus. Consequently, pregnant women are advised to take medicine only under doctors advise.
Congenital abnormalities emanating from teratogens often arise between the third and eighth weeks of pregnancy. During this period, the major fetal organ systems are in their early development phase hence the potential for congenital abnormalities for instance where certain nutrients are not provided in the diet or as supplements. Folic acid is an important supplement for the prevention of neural defects and is therefore recommended for individuals that want to conceive as well as for those that are pregnant. The brain and spine of the fetus are among the important systems that develop in the early days of pregnancy. Folic acid helps to ensure they attain the necessary integrity for sustenance of the baby. Pre-conceptual uptake of folic acid has been found to prevent the occurrence of neural-tube defects as well as congenital heart defects by about 90% and 40% respectively (Czeizel, Dudás, Vereczkey & Bánhidy, 2013). This means that the failure to take folic acid supplements before birth and three weeks into pregnancy has heightened the chances of neural-tube and heart defects by a high percentage. The fact that both defects tend to occur early in pregnancy further places the fetus at risk as the folic acid supplementation is introduced three weeks after the onset of pregnancy. These conditions have been found to have little to no recourse in terms of recovery. On this case study this woman has the possibility to be pregnant since she has a missed menstrual cycle over three weeks ago. If she is pregnant without taking folic acid supplements, the chances to her fetus had been exposure to Teratogen agents are high.
If this patient is pregnant, she would be on her first trimester of pregnancy. This is the reason the doctor ordered the serum marker test to discard any fetus abnormality such as aneuploidy pregnancies, an example of this is Trisomy 21 (down Syndrome). “In aneuploidy, somatic cells do not contain a multiple of 23 chromosomes due to nondisjunction, thus resulting in a cell with either one extra copy of a chromosome (trisomy) or one with a missing copy of that chromosome (monosomy)” (McCance & Huether, 2014). It is important to mention that maternal serum marker test screens several markers that are associated with the occurrence of a number of conditions that can affect the fetus and hinder proper growth. The test identifies markers associated with some genetic conditions and even growth defects that can prove debilitating or even fatal to the fetus or child after birth. Alpha-feroprotein (AFP) is one marker that is associated with abnormalities in the growing fetus. The AFP concentration should be lower in the mother and high in the fetus. Where it is high in the mother, the risk of open neural tube defects is elevated. This translates to anencephaly and spina bifida. Anencephaly can lead to a stillbirth owing to poor brain development. Other markers are estriol, human chorionic gonadotrophin (hCG), and inhibin-A (Genetic Alliance; District of Columbia Department of Health, 2010). High levels of hCG and low levels of maternal AFP and low levels of estriol are factors that heighten the risk of Downs syndrome (Genetic Alliance; District of Columbia Department of Health, 2010). The age of this patient is another factor that places the fetus if she is pregnant at risk hence the need for screening to determine the level of risk for the occurrence of various defects to the fetus. Maternal age is a strong risk factor for increased incidence of Down syndrome (McCance & Huether, 2014). In my point of view, since this patient was sexually active, she should had taken folic acid as daily supplement months ago, in order to avoid any of these risk abnormalities that her fetus is facing now, if she is pregnant.
Ultraviolet A and B (UVA and UVB) rays are emitted by the sun and are considered carcinogens as they both cause and exacerbate damage to skin cells by destroying the cellular DNA hence mutations and therefore occurrence of skin cancer. UVA and UVB has been determined to be a major cause of non-melanoma skin cancers. Melanoma is for instance likely to occur in light skinned individuals due to the low levels of melanin in their skins (Skin Cancer Foundation, 2019). While tanning is considered by many people a desirable activity, it is realized through the slow destruction of the skin. A tan is in fact a reaction to the destruction of the DNA leading to darkening and hence the acquisition of a tan. This darkening is in response to tissue damage and therefore a reaction to stop further damage.
I would enlighten this patient on the harm caused by tanning especially artificial tanning. By highlighting the risk of cancer, the patient would be aware the potential skin risk associated by going to these tanning salon. By teaching and ensuring that the lady is aware of the fact that she is now responsible for a fetus that will grow into a baby and the subsequent need to be there for her family in future is one approach that can convince her to stop tanning her skin. Following the patient’s history, it is imperative to refer this patient to the dermatologist to screen immediately for purposes of detecting any signs of cancer at an early stage. Any early detection of skin cancer can ensure successful treatment. But unfortunately, any risk of skin cancer on the mother put the fetus on risk as well.
Children’s Hospital Wisconsin. (2019). Teratogens. Retrieved from https://www.chw.org/medical-care/genetics-and-genomics-program/medical-genetics/teratogens
Czeizel, A. E., Dudás, I., Vereczkey, A., & Bánhidy, F. (2013). Folate deficiency and folic acid supplementation: The prevention of neural-tube defects and congenital heart defects. Nutrients, 5(11), 4760–4775.
Genetic Alliance; District of Columbia Department of Health. (2010). Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; Appendix F, Maternal Serum Marker Screening. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK132135/
Skin Cancer Foundation. UVA & UVB. Retrieved from https://www.skincancer.org/prevention/uva-and-uvb
Chung, M.D., Ph.D, W. (2004). Teratogens and Their Effects. In Columbia Education (pp. 1-8). Columbia University.
McCance, K. L., & Huether, S. E. (2014). Pathophysiology The Biologic Basis for Disease in Adults and Children (7 ed.). St Louis, Missouri : Elsevier Mosby
NUR 315 Case Study Guidelines and Rubric
Critical thinking is a habit of mind characterized by the comprehensive exploration of issues, ideas, artifacts, and events before accepting or formulating an opinion or conclusion. Case studies are meant to connect real-world scenarios with theoretical teachings. You are expected to test assumptions and find creative ways to consider all the facets contributing to analysis of the case.
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.
Critical Elements Exemplary (100%) Proficient (85%) Needs Improvement (55%) Not Evident (0%) Value
Pathology: Introduction and Identification Meets “Proficient” criteria and uses industry-specific language and is exceptionally clear and well-informed Introduces the reader to specific themes and main elements of the assigned case study without any gaps and precisely identifies specific
pathology Introduces the reader to specific themes and main elements of the assigned case study and identifies the pathology, but with gaps in
information presented Does not accurately introduce the reader to specific themes and main elements of the assigned case study and does not identify the pathology 15
Pathology: Explanation and Plan of Care Meets “Proficient” criteria and uses industry-specific language to establish expertise Comprehensively explains the pathological condition in the development of plan of care for the individual in the assigned
case study without any gaps Explains the pathological condition in the development of plan of care for the individual in the assigned case study, but
with gaps Does not explain the pathological condition in the development of plan of care for the individual in the assigned
case study 20
Response to Questions Meets “Proficient” criteria and seamlessly incorporates these responses into the submission Thoroughly addresses all prompts from the case study and comprehensively explores
issues, ideas, and concerns Adequately addresses most prompts included in the case study, but does not explore
issues, ideas, or concerns Addresses less than half of the prompts from the case study 25
Patient-Care Technologies Meets “Proficient” criteria, and explanation is exceptionally clear and well-informed Accurately explains the role of patient-care technologies (as appropriate) in caring for individuals identified in the assigned case study without any
gaps Accurately explains the role of patient-care technologies (as appropriate) in caring for individuals identified in the assigned case study, but with
gaps in information given Does not accurately explain the role of patient-care technologies (as appropriate) in caring for individuals identified in the assigned case study 15
Incorporation of Resources Incorporates more than two discipline-specific, peer- reviewed journal articles and one source from an interdisciplinary, peer-reviewed journal. Viewpoints of experts
are analyzed and well-informed Incorporates sources of evidence from at least two discipline-specific, peer- reviewed journal articles Incorporates at least two sources of evidence from peer- reviewed journals, but fails to make connection to case study clear Does not incorporate at least two sources of evidence from a peer-reviewed journal 15
Articulation of Response (APA/Mechanics) Submission is free of errors related to citations, grammar, spelling, syntax, and organization and is presented in a professional and easy-to-read
format Submission has no major errors related to citations, grammar, spelling, syntax, or organization Submission has major errors related to citations, grammar, spelling, syntax, or organization that negatively impact readability and articulation of
main ideas Submission has critical errors related to citations, grammar, spelling, syntax, or organization that obstruct understanding 10
Earned Total 100%