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Genetic Screening using CF as an example.

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Introduction

Yathavan Premadasan ? AS Biology Genetic Screening using CF as an example Word Count: 1497 Genetic screening is a very useful medical technique used to identify abnormal changes in chromosomes, genes or proteins. Genetic screening is used in several tests with more than 1000 available tests today, and more are being developed. (1) The outcomes of a genetic screening test can be used to identify a person?s chance of obtaining a genetic disease or passing on an inherited disease such as cystic fibrosis or help people make family decisions such as having children, having an abortion or even marriage. There are several types of genetic screening methods used today; some are carried out when making family decisions such as identification of carriers whilst others are used prior to birth during pregnancy such as prenatal screening or even some that are done before pregnancy such as preimplantation genetic diagnosis. Genetic screening is being increasingly used in adults with cystic fibrosis as an approach to make certain that families do not pass on the disease by letting families be able to make informed decisions about having children if they are carriers of the disease. ...read more.

Middle

Besides these disadvantages, there are many advantages for example, if a baby is found to possess cystic fibrosis then planning can be taken to help the child from day one of birth. Additionally, as an ultrasound is used during the screening process, the process can also be used to check on the ?general well being of a baby? and its gender can be accurately identified in the process. (3) The other method of prenatal genetic screening is called chorionic villus testing, which essentially is the same process to amniocentesis with both tests used for the same purpose ? to identify the presence of faulty CFTR genes. In this process, a sample of embryonic tissue is taken from the developing placenta using a catheter (tubes used to drain body fluids) as shown in image B. (4) By doing so, this creates a very large sample of fetal tissue available for testing. The placental cells contain the same genetic material as the cells of the developing baby. CVS is usually carried out earlier than amniocentesis - between the beginning of the 11th and the end of the 13th week of pregnancy. ...read more.

Conclusion

There are opportunities for False-positive and False-negative results being obtained; in a false-positive situation a fetus that has been identified positive of cystic fibrosis will actually be healthy and not have the disease at all, this therefore suggests if the couple decide to have this fetus aborted, they are actually aborting a perfectly healthy child and thus this is an issue couples have to consider and decide whether or not to take the risk of an abortion. In a false-negative result the test would indicate that the unborn child is free of cystic fibrosis however in reality the child will be born with cystic fibrosis and this could harm the couple?s relationship or affect the couple?s health mentally as they now have to look after a diseased child with cystic fibrosis. However, the chance of obtaining false results is extremely low and very rare. The risks mentioned above have to be considered against all the benefits that these screening tests can bring to a newly born child such as immediate treatment and the benefits to a couple?s relationship as informed decisions can be made as using the results. In most cases, the test results are very accurate and consequently the benefits can outweigh the risks. ...read more.

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