Genetics and Crisis Intervention - Research Paper Example

?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. The tests are being done to rule of fetal aneuploidy. Kim appeared worried because the obstetrician mentioned that “these tests were especially important for her.” She went and met the nurse counselor at the clinic and asked her several questions about aneuploidy and implications of the diagnosis of this condition in the fetus. 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 information and services and this is possible through eliciting appropriate family history and seeking advice from geneticists. The nurses must be able to tailor information concerning the genetic aspects of the disease based on the sensitivity of the patient and this can be done by recognizing the culture, social, religion, ethnic and ethical aspects of the patient. The nurses must uphold the rights of the patient during decision making and interventions and this must be based on the awareness of the fact that genetic information can be misused. The nurses must understand the fact that education plays a very important role in genetic practice and whatever information is delivered must be unbiased, accurate and without any coercion. At the same time, the nurses must recognize the personal values and beliefs of the individuals and deliver information in a sensitive manner (Kirk, 2006). Nurses must be able to demonstrate appropriate knowledge and understanding of the role of various factors including genetic factors in maintaining health of any individual and the effect and impact of modification and prevention of these factors in the manifestation of the disease. At the same time, they must also be aware of the limitations of genetic testing and genetic information that is available. The knowledge must be pertaining to the legal, ethical and social issues related to genetic testing and recording of the genetic information of the patient. They must also understand and recognize their own limitations with regard to genetics expertise and recognize their role in patient management and act accordingly. They must communicate in a credible manner using effective information technology (Kirk, 2006). In debilitating conditions like aneuploidy and Hungtinton's disease, termination of pregnancy is often recommended. Renauld et al (1993) conducted a study to ascertain the attitudes of physicians with regard to abortion in those with fetueses with diagnosed fetal anomalies. From the study it was evident that majority of physicians gave a consensus opinion about abortion in trisomy 21 condition and also in other genetic conditions like cystic fibrosis, muscular dystrophy and Huntington disease. However for several other anomalies there is no consensus statement. For providing appropriate advice with regard to genetic diseases, it is very important for the nurse to have proper knowledge of the condition diagnosed. In case of Kim, the initial suspicion was for aneuploidy. Screening for fetal aneuploidy during pregnancy began in 1960s and screening was done based on maternal age. However, currently, because of advances in non-invasive screening, all pregnant women are screened for fetal aneuploidy. The currently available screening options include maternal age along with certain non-invasive tests, namely, the nuchal transluscency test and maternal serum biochemical markers in the first trimester. In the second trimester, nuchal transluscency test has no meaning and hence maternal serum markers are used as a guideline (SOGC, 2007). In triple test, alpha-feto protein, human chorionic gonadotrophin and estriol levels are checked. The test is performed between 15- 17 weeks of gestation. This test only detects the risk of trimosies. It is performed in those with a positive family of birth defects, advanced maternal age of beyond 35 years, use of drugs and medications which are contraindicated in pregnancy, presence of gestational diabetes mellitus, history of viral infection during pregnancy and exposure to radiation during pregnancy. Low levels of alpha-fetoprotein, estriol and human chorionic gonadotrophin are indicative of chromosome abnormalities and necessitate further investigations in terms of ultrasound evaluation, chorionic villous sampling and amniocentesis. In cases where one of the tests is positive, amniocentesis is done. This is an invasive procedure, but safe, accurate and reliable diagnosis for aneuploidy. It is performed in the beginning of second trimester between 14- 20 weeks of gestation. The procedure is performed under ultrasound guidance. The fluid from the amniotic sac is sent for biochemical and cytogenetic studies. The results of the study are 90 percent accurate. CVS is performed between 10- 12 weeks of gestation. Beyond that period amniocentesis is performed. The risk of fetal loss with CVS is 0.5- 1 percent. It is 96- 98 percent accurate. Amniocentesis is performed between 14- 6 weeks of gestation. It is 99.5 percent accurate. It has a small risk of abortion, about 1 in 200 cases (Chen, 2009). Genetic counseling must be provided for those with established diagnosis of trisomy 18. The parents will be counseled to terminate the pregnancy. Level-2 ultrasound or the targeted ultrasound is the most effective method of evaluation of aneuploidies. Though an exact diagnosis of trisomy 18 cannot be made by prenatal ultrasonography, several abnormal sonologic findings can be detected in the fetus as early as the first trimester. There are many aneuploidies, the most common of which is Trisomy 21 or Down's syndrome, followed by Edwad syndrome (Chen, 2009). Whenever a parent is told about the possibility of aneuploidy in their child, they are gripped with extreme fear, distress, psychological trauma and confusion. However, what influences a parent to terminate or not terminate the pregnancy is poorly understood. According to Mezei et al (2004), "fear of having a child with abnormal sexual development or infertility remains the major determinant of parental decision toward terminating pregnancy, resulting in consistently high termination rates across time in pregnancies with 45,X and 47,XXY karyotypes. In cases with 47,XXX; 47,XYY; and mosaic karyotypes, the declining termination rate across time is a consequence of recent studies reporting normal sexual development and fertility." In Kim, the final diagnosis after chromosomal evaluation was Huntington disease. Huntington disease or HD is an adult-onset and incurable autosomal inherited disorder that occurs due to loss of neurons in the cortex and basal ganglia. It is mainly characterized by dementia, involuntary movements and behavioral changes. In this condition, the neostriatum is grossly atrophied and this is evident in the putamen and caudate nucleus. There is also accompanying astrogliosis and neuronal loss. These changes are also evident in deeper layers of the cerebral cortex. HD is a genetic disease and there exists "expansion of a cysteine-adenosine-guanine (CAG) repeat encoding a polyglutamine tract in the N -terminus of the protein product called huntingtin" (Revilla and Benbadis, 2010). As of now, the function of this product is not yet known. It is however proposed that this product contributes to neurodegeneration. The prevalence of the disease is about 4.1-8.4 per 100,000 people and varies from country to country. The prevalence is higher in western European countries (Revilla and Benbadis, 2010). The condition is a progressive disorder and can lead to significant disability and even death. The primary causes of death are cardiovascular events and pneumonia. The main characteristic presentation is chorea. During early years chorea may be mistaken for fidgetness. However, in advanced stages, it appears as ballism and interferes with the functioning of the patient. Over a period of time, chorea is replaced by parkinsonian features and dystonia leading to postural instability, rigidity and even bradykinesia. In advanced stages, patients can even develop dysphagia and dysarthria. Another characteristic feature of HD is cognitive diminition which is evident even at a younger age. Ultimately dementia develops leading to intellectual impairment, irritability, untidiness and memory disturbances. Most individuals with HD develop one or more affective disorders (Revilla and Benbadis, 2010). It is very difficult to establish a diagnosis of HD. According to Revilla and Benbadis (2010), " measurement of the bicaudate diameter (ie, the distance between the heads of the 2 caudate nuclei) by CT scan or MRI is a reliable marker of HD." Other abnormalities include proton MR spectroscopy and positron emission tomography. Genetic testing is currently available as "CAG repeat number for each allele" (Revilla and Benbadis, 2010). Genetic testing is not recommended in those with established family history of the condition and characteristic clinical features. It is recommended in those with no such family history. Those at risk for the disease can go for presymptomatic testing and they need severe counseling and psychiatric support in case the result is positive. Kim was psychologically depressed. But she gained sufficient information from the nurses about the disease condition and the accuracy of chromosome analysis. She opted to terminate her pregnancy. She received immense psychological support from the nurses in the genetic counseling room. She was poor and had financial issues and the nurses directed her for social help. Thus, genetic nurses, because of their proximity towards the patients are able to help them and for optimal provision of care and appropriate counseling, they need to possess adequate knowledge and expertise. References Department of Health or DOH. (2003). Our Inheritance. Our Future. Realising the potential of Genetics in the NHS. London: The Stationery Office Carroll-Johnson, R.M. (2000). Keeping up with scientific advances. Nursing Diagnosis, 11, 4, 149- 150. Chen, H. (2009). Trisomy 18. Emedicine from WebMD. Retrieved from http://emedicine.medscape.com/article/943463-overview Kirk, M. (2006). Learning Disabilities. Learning Disability Practice, 9(7), 33-37. Mezei, G., Papp, C., Toth-Pal, E., Beke, A., Papp, Z. (2004). Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy. Obstet Gynecol., ;104(1), 94-101. Renaud, M., Bouchard, L., Kremp, O., et al. (1993). Is selective abortion for a genetic disease an issue for the medical profession? A comparative study of Quebec and France. Prenat Diagn., 13(8), 691-706. Revilla, F.J., and Benbadis, S.R. (2010). Huntington Disease. Emedicine from WebMD. Retrieved from http://emedicine.medscape.com/article/1150165-overview SOGC Clinical Practice Guideline. (2007). Prenatal Screening for Fetal Aneuploidy. JOGC, 146- 160. Read More