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Genetics and Crisis Intervention Case Study 35 year old Kim has completed 13 weeks of pregnancy. She has been regular on antenatal check up and her obstetrician suggested her to go from nuchal transparency test and maternal serum triple marker test. She told Kim that these tests were important, especially for her because of her advanced age…
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Download file to see previous pages The nurse spoke to Kim kindly and provided information pertaining to various types of aneuploidies, their clinical presentation and complications. The nuchal test was suspicious of aneuploidy and maternal serum markers hinted at the presence of some aneuploidy. Kim was 14 weeks pregnant now and the obstetrician advised amniocentesis to confirm the diagnosis. Kim underwent the procedure and the nurse told her that she had to wait for a week for the report to come. One week later, the obstetrician confirmed that the amniocentesis report was suggestive of Huntington's disease. Kim felt disastrous. She was referred to a genetic counselor. The genetic nurse took a detailed history and went through the medical reports and noted them down. Kim enquired the nurse about implications of Huntington's disease and whether she should opt for abortion. Discussion The profession of nursing has labored continuously to document a wide and yet full range of nursing diagnoses, various nursing interventions and patient outcomes. This has been possible because of a steady knowledge base of the profession and continuous assimilation of new knowledge by means of nursing research. One such new area in which the profession of nursing has begun to get involved deeply is genetics (Carroll-Johnson, 2000). When nurses work in genetic diseases detection and management units, they are likely to come across patients and parents who will ask them about genetic disorders related questions especially in relation to a particular disease like Aneuploidy and Hungtinton's disease. In case of fetal diagnosis one question that plaques the nurses is "Is the diagnosis right? How sure are you that the diagnosis is correct?" This is more so because there is no particular symptomatology in this case and the diagnosis is often made after getting clues from routine screening. Also, in several genetic related conditions, the advice is to terminate the much awaited pregnancy, shattering the dreams of the young couple. It thus becomes difficult on the part of the nurse to convince the parents that such a decision must be taken in the best interests of both the parents and the child. Nurses, because of their proximity of the patients and easy approachability are likely to be hovered with more questions and doubts from the patients and it is obliging on the nurses to answer the question in the most understanding manner. Thus, even nurses must have appropriate knowledge about various genetic disorders that may be encountered in their clinical practice (Kirk, 2006). According to the Genetics White Paper (DOH, 2003) advances in the knowledge and also the understanding of various genetic problems, disabilities and diseases have contributed towards more accurate diagnosis with better personalized prediction of risk, better preventive strategies, improved treatment modalities and newer drugs and therapies. Such an enhanced improvement in diagnosis and prediction has already made a great impact in the clinical practice of genetics. Advances in genetics have made it possible to provide more insight into the genetic component of the disease and also various environmental triggers of the condition (Kirk, 2006). With reference to nursing in the field of genetics, seven-point competence standards have been outlined. The nurses must be able to identify patients who might benefit from various genetic ...Download file to see next pagesRead More
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