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A 25-year-old primigravid woman comes to the physician for her first prenatal visit. Her last menstrual period was 7 weeks ago. She has had some nausea and vomiting but otherwise has no complaints. Past medical and surgical history are unremarkable. Her family history is significant for cystic fibrosis with an affected aunt. Her husband has an affected cousin. Physical examination is unremarkable. Given her family history, she is concerned about the risks of having a child with cystic fibrosis. She inquires about cystic fibrosis screening. Which of the following is the appropriate response?
A. Screening is available
B. Screening is inappropriate in her case
C. Screening is mandatory
D. Screening is not available
E. Screening is unnecessary: she has a 1 in 4 chance of having an affected child
Explanation:
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C. Screening is mandatory
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C. Screening is mandatory -- agree cuz both have FHx n culd be carriers
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The correct answer is
A. Cystic fibrosis (CF) is an autosomal-recessive disease that is common in North American Caucasians of European ancestry. In this population, the frequency of the disease is 1 in 2500 live births. The carrier rate is approximately 1 in 25 individuals. The outcome of patients with CF is highly variable. Some will die in infancy from complications of meconium ileus, whereas others will live beyond the age of 50. The usual clinic manifestations include pulmonary disease with bronchiectasis, pancreatic insufficiency, and failure to thrive. The gene for the disease is known. However, there are more than 500 mutations that can cause C
F. The most common mutation, which causes 75% of cases in Caucasians, is referred to as delta-F508. The CF gene has been cloned, and it is possible to perform screening on couples. Genetic techniques can also be used to determine whether the fetus has the relevant mutations. In this patient, with her and her husband's family histories, screening would be available and appropriate. To state that screening is inappropriate in her case (choice B) is incorrect. This patient has relatives with CF and so does her husband. She is concerned about the possibility of having a child with this disease. Screening is available and appropriate in her case. To state that screening is mandatory (choice C) is inappropriate. Whether to undergo screening for a genetic disease is a very personal choice. This patient may not want to know whether she is a carrier or whether her fetus is affected. Many patients with genetic diseases or with family histories of genetic disease feel this way, and screening is certainly not mandatory. To state that screening is not available (choice D) is incorrect. As stated above, CF screening is available. To state that screening is unnecessary because she has a 1 in 4 chance of having an affected child (choice E) is incorrect. If she and her husband were both carriers with the same mutation, the risk would be 1 in 4. However, we do not know this. Although they both have positive family histories, neither may be a carrier.
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guess we can't force them LOL
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i think if its a genetic diease which manifests in childhood and there is a treatment for it screening is mandatory
if its a genetic disease which manifests in childhood but there is no rx for it screening is optional (like cystic fibrosis)
if there is a genetic disease which manifests in adulthood screening is not done....
i remem this from step1...
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