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Question 1
Correct
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Regarding twin pregnancies all of the following are correct EXCEPT:
Your Answer: Identical or monozygotic twins arise from fertilization of two ovum
Explanation:Monozygotic (MZ) twins originate when a single egg is fertilized to form one zygote, which then divides into two embryos. Although they share the same genotype they are not phenotypically identical.
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This question is part of the following fields:
- Genetics
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Question 2
Correct
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Which of the following statements regarding BRCA gene mutations is true?
Your Answer: They account for around 25% of inherited breast cancers
Explanation:Hereditary breast cancers account for 10 % of the cases. BRCA gene mutations account for 25 % of these cancers.
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This question is part of the following fields:
- Genetics
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Question 3
Incorrect
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A women has undergone genetic testing due to her family history and has the BRCA 2 gene. What would you advise her lifetime risk of breast cancer is?
Your Answer: 25%
Correct Answer: 45%
Explanation:The life time risk of breast cancer in BRCA 2 gene is 45% and of ovarian cancer is 15%.
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This question is part of the following fields:
- Genetics
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Question 4
Incorrect
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A woman has undergone genetic testing due to her family history and has the BRCA 1 gene. What would you advise her lifetime risk of ovarian cancer is?
Your Answer: 25%
Correct Answer: 40%
Explanation:The most common hereditary cancer in the breast ovarian cancer syndrome accounts for 90% of the hereditary cancers. It is due to mutations in the BRCA 1 and BRCA 2 genes, most commonly the BRCA 1 gene accounting for 70% life time risk of breast cancer and 40% life time risk of ovarian cancer.
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This question is part of the following fields:
- Genetics
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Question 5
Incorrect
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You are called to assist in an initially midwife led delivery. Upon delivering a female baby you notice the baby has partial fusion of the labioscrotal folds. You suspect congenital adrenal hyperplasia. Which of the following is the most common enzyme deficiency?
Your Answer: 17a-hydroxylase
Correct Answer: 21-hydroxylase
Explanation:Congenital Adrenal Hyperplasia leads to the virilization of the foetus. It occurs due to an enzyme deficiency in the corticosteroid production pathway i.e. 21-hydroxylase which converts progesterone to deoxycorticosterone. The reduced levels of corticosteroids results in the negative feedback loop that leads to adrenal hyperplasia.
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This question is part of the following fields:
- Genetics
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Question 6
Correct
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If both parents have beta-thalassaemia minor, what is the chance of their male offspring having beta thalassemia major?
Your Answer: 25%
Explanation:This is not an X-linked condition so the sex of the child makes no difference to the inheritance. Any child will have a 1 in 4 chance of having beta thalassaemia major.
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This question is part of the following fields:
- Genetics
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Question 7
Correct
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A women has undergone genetic testing due to her family history and has the BRCA 1 gene. What would you advise her lifetime risk of breast cancer is?
Your Answer: 70%
Explanation:The life time risk of breast cancer in BRCA 1 gene is 70% and of ovarian cancer is 40%.
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This question is part of the following fields:
- Genetics
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Question 8
Incorrect
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Which of the following statements regarding Management of Beta Thalassaemia in Pregnancy is not part of the RCOG guidelines?
Your Answer: All women with thalassaemia major should undergo specialist cardiac assessment at 28 weeks
Correct Answer: Folic acid 5 mg daily should be commenced 12 months prior to conception
Explanation:Women with Beta-Thalassaemia require significant extra input during pregnancy. Folic acid 5 mg daily should be commenced 3 months prior to conception in these patients. NOTE Women with thalassaemia who have undergone splenectomy OR have a platelet count >600 should continue or be commenced on Aspirin (75 mg/day)
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This question is part of the following fields:
- Genetics
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Question 9
Incorrect
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Regarding Turner syndrome which of the following statements is true?
Your Answer: Complete monosomy is rare accounting for <10% of cases of Turners
Correct Answer: Only 1% of affected foetuses will survive to term
Explanation:The incidence of 45,XO turner syndrome is around 1 in 8000 live births. Approximately 1% of monosomy X female embryos survive. Phenotypically they are females and 90% do not develop secondary sexual characteristics and hormone replacement is required.
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This question is part of the following fields:
- Genetics
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Question 10
Incorrect
SESSION STATS - PERFORMANCE PER SPECIALTY
