Human Genetic Disorders

a medical abortion. This is a difficult decision but is an option that can be presented to the parents according to their location because it is not legal in every country or state (WOW, 2010).Furthermore, it is important to mention the fact that this type of mutations suffers from “anticipation” which is a phenomenon that makes that the expansion increase from one generation to the nextworsening the disease, so the Kelly’s baby may be more affected than she is.

For their next pregnancy the preimplantation diagnosis could be presented as a good option for this couple. This processanalyses cells of embryos conceived by in vitro fertilization to transfer to the mother’s uterus only those embryos which are found healthy of HD. (GHR, 2011).

If Kelly decides not having thetest during her pregnancy, she can have her baby tested in childhood. The genetic test for HD consists of a blood test and then observing the number of CAG repeats. This process is made first bysomething called polymerase chain reaction in which a pieces of DNA are amplified in a very short time generating thousands of millions of copies of a particular DNA sequence (Wikipedia, 2012). Then gelelectrophoresis is performed which is a technique that separates the DNA fragments by size with the help of electric current. The smaller fragments migrate faster and further to the positive pole ofthe gel and this create a band patter that can be analyzed. (Biggs et al, 2009). It is not considered a diagnosis when having a positive result because it may be obtained many years before the symptomsstart appearing. Nevertheless, a negative test means that the individual does not carry the repeat expansion mutation and will not develop HD.

It is important to mention that having her babytested in childhood, if it is affected with the disease, it can be a trigger for depression and frustration for both parents and the child. Being aware that this disease cannot be cured or treated and...