Tay-Sachs PGD Screening Case

In the article “Selecting the Perfect Baby: The Ethics of “Embryo Design,” is an article about a married couple, name Larry and June Shannon. They have a daughter, four years old, name Sally, who is diagnosed with Fanconi Anemia. Therefore, the Shannons are getting help from a research team, to find the perfect bone marrow transplant for Sally. The Shannon couple is also interested in having another child and they are aware of the risks and odds of success. However, a PGD process has to be performed and the couple must undergo an IVF procedure more than once, before the implantation is successful, to be able to produce a healthy full-term baby.

A Preimplantation Genetic Diagnosis (PGD) is a test that “allows future parents to detect genetic defects that cause inherited disease in human embryos before they are implanted.” One of the most ethical questions that one might ask before considering the PGD is whether the benefits of genetic knowledge outweigh harmful effects that occur to the embryo? Is it really worth manipulating embryos genes in order to achieve the desire of the parents? Often times we have to take into considerations the risk and benefits of each situation. I believe that the PGD test should be only be done to detect genetic defects, but it should not be used to manipulate genes in order to make what to them is a “perfect” child. As stated in our text, “ In the united Kingdom alteration of an embryos genes, even for gene therapy or cloning embryos is illegal.” By manipulating genes its like going against Gods wishes. In the eyes of God every person that comes into this world is equally seen as a human being because they are all created in “ the image of God.” In this case the parents should not be allowed to manipulate the genes of their unborn child just to accommodate to their

PGD is known as pre-implantation genetic diagnosing. I do not think it is ethical to design and conceive a child that meets specific genetic requirements. I do not feel that this is an ethical reason to conceive a child. Rather, I believe all children should be seen as blessings or gifts, not sacrificial genetic progeny.

The purpose of this paper is to discuss the hereditary genetic disease Tay-Sach’s, discovered during a pregnancy. The discussion will focus on developing an interdisciplinary team and care plan for the expectant parents based on their wishes. This paper will also cover any ethical and/or legal dilemmas that may arise as well as identify counseling needs of those involved. In addition, there will be a personal reflection about high risk pregnancy, abortion, and the decision made by the expectant parents.

Mr. and Mrs. Trosack have recently been told through chorionic villus testing, that their unborn child has Tay Sachs disease.As the case manager there should be several appropriate members identified for an interdisciplinary team to obtain information for the Trosacks ' initial visit. Those team members include, a high risk obstetrician, or perinatologist, obstetric nurses, a geneticist, a social worker, and or genetic counselor who specializes in such genetic diseases, and it would be

Derek Parfit in “Energy Policy and the Further Future” presents the dilemma of whether or not there is a moral difference between allowing thousands of children to be born with an illness and later cured, or rather never allowing these same children to be born and instead have a “different child” come out of the child bearing process with their health fully intact. In the case in which funding can only be attributed to one of these circumstances, I would support the situation in which doctors performed Preconception Testing. I feel as though this is the most morally acceptable answer because it would prevent a human life from having to endure an unnecessary handicap. Regardless of the fact that children in the first example would eventually

Some of the general symptoms of the disease can be characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large

Imagine giving birth to a beautiful seemingly healthy baby, the doctor wiping him or her off and handing it to you. Two days later, the hospital discharges you, and you begin to spend the next 3 months adjusting your new baby to your home. Towards the 4 month mark you realize some serious symptoms that are hard to ignore such as the inability to grow beyond his or her small figure., inability to hold something like a spoon or even your finger,and lastly lack of eye contact. Scary as this scenario may seem, at least 16 babies are diagnosed with Tay-Sachs disease in United States every year. Unfortunately, the diagnosed cases are only found in toddlers because, children with this disease only survive to the age of 5 years of age.

Tay-Sachs disease is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Commonly it becomes apparent in infancy. Infants with this disorder usually appear normal until ages 3-6 months, when their development slows and muscles used for movement weaken.

As a Tay-Sachs genetics counselor waiting for the arrival of my next family session, I would have to prepare by reviewing their medical file. In the file, I would be reviewing the date of birth of the child at the time of the session. Age is very important to help identify the current symptoms the child may be exhibiting and upcoming symptoms. Observed symptoms of Tay-Sachs disease in infants can be muscle weakness or paralysis, seizures, respiratory distress, loss of hearing or deafness, exaggerated startle response to sound or light, and a red spot which is located on the macula in the child’s eye. Progression of the disease is rapid and most infants will have passed by the age of 5. Discussing hospice and hospice counseling along with offering

Tay Sachs Disease is an inherited disorder that kills nerve cells in the brain, and also in the spinal cord. A couple of things that could cause this mutation is a missing enzyme. This is an enzyme called ganglioside, that is a fatty substance. Another reason why tay sachs could appear is a change in chromosomes. This is chromosome number 15. The gene is the HEXA gene, or hexosaminidase A. This is a recessive disorder that you can only inherit if both parents have tay sachs. Some symptoms to know if you have this disease is weakened muscles, startling of loud noises, seizures, hearing loss, blindness, and paralysis. If you’re an infant and you have tay sachs disease, you will start to gain abilities, like crawling, but then start to lose them.

In Tay-Sach’s, the body does not have a particular enzyme that rids fatty tissues in the brain, allowing the fat build-up to persist (Specter). This causes the brain to slowly deteriorate as the baby matures, which annihilates the child by five years of age. The disorder is inflicted upon the baby when both parents give the faulty gene to their offspring (Specter) - this makes genetic engineering the solution to the problem. Scientists can concentrate on the egg or sperm to eradicate the defective gene, therefore averting the disease. Moreover, this demonstrates why genetic engineering in humans should be authorized because it can help counteract detrimental diseases. No couple would want to watch their child gradually lose his/her glee, mentality, and eventually life, just as no family would want a certain day remembered as the demise of their relative who could not even age up to six years. Furthermore, every newborn child is a new destiny brought into the world and a chance for someone exceptional to impact the community - with diseases like Tay Sach’s, that opportunity would be completely

With the guidance of their physician, Baby Does’ parents chose to withhold medical care and surgery due to the

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.

It can also be used to test for Tay-Sachs Disease, Fragile-X Mental Retardation, Cystic Fibrosis, Down Syndrome and Spinal Muscular Atrophy. In the past couples who wanted to have childr en, and were carriers of inherited diseases, worried about the possibility of their children inheriting the disease. Parents will no longer have this worry. In 1989, an English couple became the first to use PGD [Grady,1995]. It was used because they were at risk of passing along a form of severe mental retardation. Because it only affected sons, PGD was used to ensure that the couple had a daughter.