Chapter·OB/GYNScreening tests

Genetic counseling principlesDownloads

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1

A 28-year-old woman comes to the physician for genetic counseling prior to conception. For the past year, she has had intermittent episodes of headache, nausea, abdominal pain, and tingling of her fingers. She also complains of dark urine during the episodes. Her mother and maternal uncle have similar symptoms and her father is healthy. Her husband is healthy and there is no history of serious illness in his family. Serum studies show elevated concentrations of porphobilinogen and δ-aminolevulinic acid. What is the probability of this patient having a child with the same disease as her?

A25%

B67%

C50%

D100%

2

An 83-year-old man presents to the gastroenterologist to follow-up on results from a biopsy of a pancreatic head mass, which the clinician was concerned could be pancreatic cancer. After welcoming the patient and his wife to the clinic, the physician begins to discuss the testing and leads into delivering the results, which showed metastatic pancreatic adenocarcinoma. Before she is able to disclose these findings, the patient stops her and exclaims, "Whatever it is, I don't want to know. Please just make me comfortable in my last months alive. I have made up my mind about this." Which of the following is the most appropriate response on the part of the physician?

A"If that is your definite wish, then I must honor it"

B"The cancer has spread to your liver"

C"As a physician, I am obligated to disclose these results to you"

D"If you don't know what condition you have, I will be unable to be your physician going forward"

E"Please, sir, I strongly urge you to reconsider your decision"

3

A 52-year-old man with stage IV melanoma comes to the physician with his wife for a routine follow-up examination. He was recently diagnosed with new bone and brain metastases despite receiving aggressive chemotherapy but has not disclosed this to his wife. He has given verbal consent to discuss his prognosis with his wife and asks the doctor to inform her of his condition because he does not wish to do so himself. She is tearful and has many questions about his condition. Which of the following would be the most appropriate statement by the physician to begin the interview with the patient's wife?

AHave you discussed a living will or goals of care together?

BWe should talk about how we can manage his symptoms with additional chemotherapy.

CWhy do you think your husband has not discussed his medical condition with you?

DWhat is your understanding of your husband's current condition?

EYour husband has end-stage cancer, and his prognosis is poor.

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