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Sarah Kennedy Spinal Muscular Atrophy Case Study

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The field of medical genetics has changed from the earlier days in that various diagnoses can be made during the first trimester of pregnancy. In the case Sarah Kennedy’s diagnoses of spinal muscular atrophy (SMA), the diagnose could only have been made during the child’s infancy period as the child started to show signs such as not eating, rapid weight loss and what doctors characterized as floppiness (Marion, 2010,p.83-100). After the Kennedys’ have lost Sarah to SMA, they learned that each of their child would have a 25% chance of having SMA if conceived however four years after the loss of Sarah, the Kennedy surprisingly had conceived a boy (p.88-89). Filled of fear, they seek out Dr. Robert Marion who gives them good news that research in genetics has amplified over the four year period in which Sarah has been deceased especially in SMA (p.83-90). He then goes on to explain that the root of disease has also been identified however that the reason behind why the genes are altered the way they are have not been discovered and the most he could do for them was to take a sample of Sarah’s DNA and make an comparative analysis with the fetus’s cell (p.90-91). …show more content…
Kennedys’ fetus

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