Genetic Testing and Counseling in Pregnancy Essay

For m all women, pregnancy is met with excitement. However, for a few lucifers, the pregnancy dejection take a completely assorted turn when the fetus is determined to be afflicted with infantile amaurotic idiocy disease. This is a genetical condition, usually found in Caucasians, and primarily those of Jewish descent, and develops in 25% of fortunes when both p arnts carry the recessive gene ( discipline Tay-Sachs and Allied Diseases NTSAD, n. d. ).Genetic counseling is a relatively new concept in health upkeep and is the edge of helping people understand and adapt to the medical, psychological and familial implications of genetic contri butions to disease (National Society of Genetic Counselors NSGC, 2005, para. 2). For the men and women facing a pregnancy involving Tay-Sachs, genetic counseling is a vi suitable and important option to pick out. However, to ensure quality cargon and education, genetic counseling necessarily to involve a team of healthc are professionals f rom a variety of backgrounds.Interdisciplinary Team Members and Their Roles in Genetic Counseling Appropriate members of a multi-disciplinary team for the Trosacks include a genetic counselor, a nutritionist or dietician, the high-risk OB-GYN physician, a registered nurse specializing in high-risk perinatal care, and a therapist specializing in marriage and family therapy needs. Each member of this team leave alone add a unique perspective to the Trosacks case. The genetic counselor has graduate-level education and experience in both medical genetics and counseling (NSGC, 2005, para. 1). exploitation her expertise and skills, she bequeath review the medical history for Mr. nd Mrs. Trosack, and their families, identify opposite genetic risks that whitethorn exist and explain inheritance patterns. She get out contribute information and resources for further education on genetic dis set outs, so that they can pass off to learn about Tay-Sachs and connect with other families fa cing the disease. In addition to this expert information, the Trosacks will benefit from a nutritionist or dietician. The nutritionist not unless has special training in the area of nutrition, but also in educating patients about their options and making nutritious choices.In general, a nutritionist can advise individualson the nutritional practices that will promote hot health, and structure and recommend diet thinks for whole familiesincluding guides to the correct preparation of meals and shopping for the right foods (Princeton Review, n. d. ). He will perform a nutrition assessment, provide education on additional nutritional needs due to pregnancy, and even assist with meal planning to ensure a health pregnancy. He will continue to assess and make recommendations on Mrs. Trosacks nutritional needs based on lab work throughout the pregnancy.The patients overall care is the responsibility of her OB-GYN, who specializes in high-risk pregnancies. A high-risk OB-GYN has a lengthy education, residency and fellowship history to gain slamledge in caring for erstwhile(a) patients, patients with specific medical conditions and patients carrying a pregnancy that has been determined to need specialized care. The perinatologist is not only capable of making diagnoses other obstetricians may miss, but can also perform specialized procedures and administer medications across the placenta (Perinatologists, n. d. ).She will assess the medical needs of Mrs.Trosack and the fetus throughout the pregnancy, monitor fetal growth and development, order diagnostic tests as needed, and provide referrals to other specialists as needed. Working with the physician will be a nurse specializing in antepartum clients. This nurse has elect to expand on her nursing education, taking additional classes and obtaining certifications specific to perinatal care. He will assess the couples understanding of pregnancy and prenatal care at the world-class visit and make a plan to educate the m on each stage of pregnancy and fetal development as well as options available during labor and delivery.Additionally, he will ensure the couple understanding for each test or referral suggested by the physician. Due to the accede of the diagnosis, the couple will also benefit from a marriage and family therapist on their team. The couple has already expressed exasperation over the diagnosis, and volley mingled with denial and acceptance of the diagnosis. Additionally, Mrs. Trosack has already expressed guilt over her workload and its affect on the baby. Mr. Trosack has expressed anger, which can lead to resentment.The strong emotions felt by both parties need to be expressed in a healthy way to preserve their marriage, and a therapist specializing in family matters is an appropriate facilitator. She will find with the couple together, as well as individually to assess their feelings about the pregnancy, the Tay-Sachs diagnosis and the feelings they have toward each other. The therapy sessions will continue afterward the stomach of their baby, due to the nature of the disease and the stress the babys health will add to their lives.Teaching Plan for the Initial VisitThe teaching plan for the Trosacks initial visit at the high-risk pregnancy center will include the hunting Genetic diagnosisThe Trosacks need to understand the diagnosis of Tay-Sachs how it is transmitted, the probability of other pregnancies testing positive, and what symptoms their tiddler is likely to develop. This will help them to understand they have done nothing wrong and prepare for the special needs their pip-squeak will have. TreatmentNo treatment exists for the disease itself, but the Trosacks will benefit from learning about the symptoms their peasant may develop and how those symptoms are treated.They will be informed of ways to keep their child safe and comfortable during the illness. Prognosis as it applies to Tay-SachsThe prognosis for infantile Tay-Sachs is poor, with a bout children becoming progressively worse until their death by age 4 or 5. The Trosacks need to be informed of this so that they can make preparationsfor themselves and other family members. Because most children develop normally until around six months of age, the Trosacks need to know that an absence of symptoms does not mean an absence of the disease (NTSAD, n. d. ).They need to know that their term with this child will be limited and filled with doctor visits and difficult medical decisions. With this education and advanced notice, they can begin to discuss which treatments they may consider (medications) and those treatments they may not want to consider (feeding tube). Support groups and appropriate referralsWith the Internet, the community of support for families with Tay-Sachs has greatly expanded. The Trosacks will be given information on local support groups as well as the internet communities available to them.They will be directed to the National Tay-Sachs and Allied D isease, March of Dimes and National Organization for Rare Disorders websites to connect with other families who are living with Tay-Sachs. This support will help the Trosacks connect with the only other people who know what they are going through, share their concerns without fear of judgment, and learn from those have gone through it all personally. Pregnancy informationInformation on pregnancy is necessary for any pregnant woman, especially during her first pregnancy.Over the length of the pregnancy, the Trosacks will learn about how pregnancy and fetal development progresses during each trimester, what changes Mrs. Trosack can expectphysically and emotionally, and ways in which Mr. Trosack can be of assistance to her. The first visit will specifically cover the development to date and through the end of the first trimester. They will view pictures of the developing fetus and the ways in which Mrs. Trosacks body is changing to accommodate the pregnancy.Ethical Implications of Havi ng Genetic Information Available dapple genetic testing is a wonderful addition to the vast array of diagnostics medicine now offers, it can bring about new honourable implications. In reference to autonomy, genetic testing can sometimes reveal information about ones family that was not known. For example, a Caucasian family may be surprised to find they are crew cuts for Sickle Cell disease, a disease found primarily in African-Americans and can bring about questions regarding the family history. These discussions may lead to the ethical issue of perceived invasions of privacy for other family members.Another example would be the dilemmas that occur when there is a difference in societal believes and ones personal beliefs. First, persons with a genetic condition may prefer not to learn that their offspring is at risk for the condition, or they may prefer to have offspring with the same condition present in other family members (Halsey pastureland, Williams, & Donahue, 2005, par a. 15). Secondly, some people may feel it is unjust to bring a baby with anomalies into the world. The results of genetic testing in these instances may necessitate decisions about continuing pregnancy, selective termination and adoption.A third example of ethical dilemmas in regards to genetic information world available is in relation to beneficence and nonmalificence. For example, clinicians caring for a pregnant patient find the baby she is carrying has spina bifida. The patient states her sister had spina bifida and that she wants to deliver her baby in the community hospital with a midwife. The clinician now must balance her respect for her patients wishes with the concern she feels in allowing a baby with special needs to be born in an environment that cannot provide services that may improve the births outcome (Halsey Lea et al. 2005).A fourth ethical issue is that of justice. For, some genetic disorders can be found with testing while others still cannot. For example, the ability to identify carrier status for a mutation in the gene for cystic fibrosis is lower among Asian American and African American persons than it is in Caucasians (Halsey Lea et al. , 2005). Thus, the results of testing performed on an Asian American or African American patient may not be a reliable indicator of their carrier status. Personal thoughts, Feelings and protagonism As a woman, this writer cannot begin to imagine the feelings felt by the Trosacks.After years of trying to conceive, they learn that they are finally pregnant only to find out their baby is likely to die by age five from a horrible, progressive disease. If in Mrs. Trosacks shoes, would this writer be hardy enough to continue the pregnancy, knowing the prognosis? I do not know. I am sure, however, that the Trosacks have a difficult road ahead of them. If I were Mrs. Trosack, I would expect to feel a constant state of griefover the diagnosis and the life my child will not have, the loss of those milestones p arents count forward to (first day of school, first dance, etc), the impending months or years of illness.I would hope that I could treasure the better moments I do have with my childfrom birth to death, holding her as much as possible, trying to focus on the symptom-free moments, taking as many pictures as I can to record her short life. I question how angry a woman would feel in this situation. Surely, even those women with strong religious beliefs question the why of the diagnosis and circumstance. Why, after all this time allow me to conceive if youre going to give me a child so sick? What is the point of bringing a child into life if they are to suffer throughout?Why us? Would a woman facing this diagnosis feel as if everyone pities her? While reading the case study, I found myself feeling pity for her, knowing that she would lose her child in such a horrible way after wanting a child so badly. Despite these feelings, the Trosacks choice to continue their pregnancy is just th attheir choice. Many people think that being pro-choice means advocating for abortion. However, it is my belief that being pro-choice means advocating for people to make the best choice for themselves in particular situations.For, only those going through a particular situation know best how well or poorly they can handle a decision and circumstance. Their decision to continue a pregnancy after the diagnosis was make is a brave one and speaks volumes to their character and beliefs. The Trosacks case manager will work with each member of the interdisciplinary team to ensure they respect the wishes of the couple. The couple needs to know that they are supported and are being treated without judgment from the team members. She will meet with the team members to ensure they are able to continue treating with couple appropriately.If any of the team members express an inability to refrain from sharing their personal feelings with the couple, she will find suitable replacements. While the team members are entitled to their feelings, they are expected to keep those feelings to themselves when caring for patients. And, when patients are facing emotional and controversial decisions, the separation is even more important. Ethical and Legal Considerations When the Trosacks do the decision to continue the pregnancy after learning their baby has Tay-Sachs, they became bound, legally and ethically, to care for the child after the birth.Ethical considerations include the decision to bring a child into a life of poor health and early death after a progressive decline. Many people in society will judge them for this, and the child will be perceived in certain ways by others. Further, they will be faced with the decision to allow researchers to follow their child in an effort to gain more information about the disease in search for a cure. The child has no autonomy as a minor, and has no right to privacy when her parents are making the decisions.Another ethical question is who owns the genetic information? The genetic information is on the childs DNA, but the parents are the ones making all the decisions. Legally, there are several areas of concern for the couple. First, they are now bound to provide healthcare to this child, condescension the poor prognosis. They must provide food, clothing and shelter, and keep the child safe and comfortable as she declines. The child will eventually develop problems with swallowing, and at that time, will require further interventions to maintain life.Secondly, they are required to provide medical care for the child and, with the poor prognosis, this is likely to involve many appointments, testing and medications or treatments. Third, they may have problems with insurance coverage, as some insurance policies may consider the childs diagnosis to be pre-existing, denying coverage for any treatments associated with the disease. Though this is certainly not ethical, it is legal in this country, and may lead to financial p roblems and difficulty in continuing to obtain quality medical care.