Huntington Disease Essay

George Huntington first described Huntington’s disease in 1872, but it was only mentioned to the

Pre-implantation genetic diagnosis is a procedure performed on a zygote before implantation; it detects genetic defects within the embryos created via in vitro fertilization (Preimplantation Genetic). Preimplantation has a series of four steps: a cell is removed from the

All women should be offered genetic testing during child-bearing years. It may be done before pregnancy or during pregnancy.

Prenatal genetic testing is not intrinsically different from other medical exams or tests. The results are varied degrees of accuracy which limit the prognosis, but make it possible for parents to prepare for the birth of a potentially disabled child or to avoid the possible defects and abort the fetus (Denier, 2010). This prenatal genetic diagnosis (PGD) is routine in the United States although the patient must consent or use autonomy to refuse testing.

United States genetic centers now offer DNA tests for over 30 or 40 of the more commonly inherited disorders. Those including cystic fibrosis, susceptibility to breast cancer, X syndrome, Huntington’s disease, Duchenne muscular dystrophy, and many other various disorders (Golden). Also, with recent developments, couples are able to have a pre-implantation genetic diagnosis (PGD). This procedure allows the testing of genetic disorders before germination. It consists of “petri-dish” testing of sperm and egg cells donated by the soon to be parents. This procedure prevents the idea of abortion, for if genetic problems occur, you are not destroying a fetus, but simple flushing away embryo cells.

(L. Erlenmeyer-Kimling, Nancy E. Miller 275-281) This disease is entirely inherited, there is no way of getting it unless you get the gene for the disease. Huntington’s is an autosomal dominant disorder, which means that you only need to get the abnormal gene from one parent in order for you to inherit the disease. To give more clarification, Mayo Clinic states that “with the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent. A parent with a defective Huntington’s gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.” (June 14, 2014) If you have Huntington’s disease and also decide to have children, then your offsprings have a 50/50 chance of getting that illness, kind of like a coin toss in a way. These children usually have a tough decision to make. They lived through Huntington’s with their parents and saw all the hardships they had to go through due to the sickness. Now, they have to decide whether or not they want to be tested for the gene. This test can either lift a huge weight of their chest, or it can be fatal. The testing process for Huntington’s is

Huntington 's disease is a dynamic, neurological disorder. Tragically, it doesn 't demonstrate manifestations until people have reached they’re 30 's or more. 'Children whose parent 's have this genetic disorder have a 50-50 ' ( ) possibility of acquiring the trait.

Preimplantation genetic diagnosis with assistants from IVF meets this demand. PGD is a reproductive option for those who do not want to pass on specific genetic disorders or chromosome imbalance to their offspring. After undergoing IVF, embryologist’s will screen the embryo’s DNA. Embryo’s which contain obvious genetic abnormality will be excluded and unaffected embryo’s will be transferred to the uterus; therefore, the patient can have a genetically normal pregnancy and

The first section will focus on parents with a family history of severe hereditary diseases such as cystic fibrosis or sickle cell anemia. When one or both partners in a couple are carriers of the genetic mutation that could leave could lead to a serious medical condition in the child, IVF and PGD screening can be performed on their embryos1. These parents will choose to screen their child to see if the genes related to the hereditary disease are present in the embryo. They are also checking to see if genes that don’t guarantee the disease but have a strong correlation are present as well. This is done to prevent the onset of that disease for their child.

At this case, the family has to be informed of the following results as the test came positive to Freddie, Agnes and Edward. These members of the family carry the Huntington’s allele and will be affected by

A gene mutation which can be identified through prenatal testing is Tay-Sachs disease, which is an uncommon inherited condition that ruins the brain and spinal cord's nerve cells.

This test is not only expensive but is too invasive to be practical as a widespread screening tool. Moreover, the exact test procedure varies between countries and the results are not perfect. While carrying 100% sensitivity, specificity ranges between 80%-97% have been established and the ratio of result reproducibility between laboratories has only been shown to be 0.56-0.77 . Given the clear genetic component of MHS, genetic testing has long held great promise as a potential screening tool that could result in pre-op identification of individuals with MHS. However, there are several barriers to be overcome before genetic testing for MHS can supplant the

1. Pre-Implantation Genetic Diagnosis, or PGD, is a procedure that people can go through to avoid passing down inheritable conditions that can have dangerous long-term effects on their children. It involves screening the mother’s embryos by In-vitro Fertilisation (IVF) for mutations, and selecting healthy embryos for further treatment. This can ‘increase the chance of a genetically normal pregnancy and the chance of having a healthy baby.’ People who are likely to apply to undergo the IVF procedure are couples trying to conceive, but have a family history of genetic diseases that they do not want to pass down.

Pre-implantation testing is a used on embryos which is also called pre-implantation genetic diagnosis (PGD). PGD detects genetic abnormalities in embryos that were created by a method called in-vitro fertilization (IVF). This method consisted of removing egg cells from a woman ovaries and then unite it with sperm cells outside the body. Pre-implantation is then tested by taking a small number of cells from the embryos and testing them for certain genetic disorders. To achieve a healthy pregnancy only the embryos without the genetic disorders are inserted back into the uterus.

Prenatal testing provides many advantages to women and their babies.  One major advantage is the ability to detect a vast variety of diseases and disorders before the baby is even born.  According to Prenatal Screening and Its Impact on Persons with Disabilities, “The most frequently given reason is that [doctors] are trying to ‘prevent’ or ameliorate medical or disabling conditions that are genetically based” (Kaplan par.4).  By having these advanced tests, it allows doctors to research and garner information on how to prevent a possible disorder or disease.  As reported by LiveScience, the tests can detect genetic disorders and birth defects such as down syndrome, Tay-Sachs disease, sickle cell anemia, or cystic fibrosis (Nierneberg par.2).  These tests give the parents an advanced notice on some issues they could possibly deal with now or at a later time.  The tests can also determine the sex of the baby which is always thrilling for the parents-to-be.  Another advantage of prenatal testing is that some