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Question 1
Correct
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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 genes is most likely to be mutated?
Your Answer: CYP21A
Explanation:CAH leads to virilization of the female foetus. It occurs to an enzyme deficiency (21-hydroxylase). This results in a reduced levels of corticosteroids from being circulated resulting in hyperplasia of the adrenal glands and increased progesterone production. The CYP21A gene has been implicated in causes this deficiency.
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This question is part of the following fields:
- Genetics
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Question 2
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 be receiving blood transfusions on a regular basis aiming for a pretransfusion haemoglobin of 100 g/l
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 3
Incorrect
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You see a patient in fertility clinic who you suspect has Klinefelters. What is the likely karyotype?
Your Answer: 47XYY
Correct Answer: 47XXY
Explanation:Klinefelter syndrome occurs in 1:1000 individuals. They are phenotypically male and genotypically they have 47,XXY chromosomes. These individuals have small testes, are tall with disproportionate long lower limbs.40% will also have gynecomastia.
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This question is part of the following fields:
- Genetics
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Question 4
Correct
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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: 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 5
Correct
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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: 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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A pregnant patient who is needle phobic has her nuchal translucency (NT) scan but refuses serum markers. You advise her the False Positive Rate of the scan is 5%. What would you advise the mother regarding the detection rate of Down Syndrome using NT alone?
Your Answer: 70%
Explanation:The nuchal lucency measurement is the measure of the nuchal pad thickness. Children with down syndrome have an increased thickness of the nuchal pad. The risk of down’s syndrome increases with maternal age. The nuchal lucency test has an accuracy rate of 70%.
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This question is part of the following fields:
- Genetics
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Question 7
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 8
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: 70%
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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