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  • Question 1 - Regarding twin pregnancies all of the following are correct EXCEPT: ...

    Correct

    • 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.

    • This question is part of the following fields:

      • Genetics
      2.7
      Seconds

  • Question 2 - Which of the following statements regarding BRCA gene mutations is true? ...

    Correct

    • 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.

    • This question is part of the following fields:

      • Genetics
      121.2
      Seconds

  • Question 3 - A women has undergone genetic testing due to her family history and has...

    Correct

    • 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%.

    • This question is part of the following fields:

      • Genetics
      9.3
      Seconds

  • Question 4 - A woman has undergone genetic testing due to her family history and has...

    Incorrect

    • 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.

    • This question is part of the following fields:

      • Genetics
      7.4
      Seconds

  • Question 5 - You are called to assist in an initially midwife led delivery. Upon delivering...

    Correct

    • 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.

    • This question is part of the following fields:

      • Genetics
      380.8
      Seconds

  • Question 6 - If both parents have beta-thalassaemia minor, what is the chance of their male...

    Correct

    • 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.

    • This question is part of the following fields:

      • Genetics
      6.7
      Seconds

  • Question 7 - A women has undergone genetic testing due to her family history and has...

    Correct

    • 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%.

    • This question is part of the following fields:

      • Genetics
      5.3
      Seconds

  • Question 8 - Which of the following statements regarding Management of Beta Thalassaemia in Pregnancy is...

    Correct

    • Which of the following statements regarding Management of Beta Thalassaemia in Pregnancy is not part of the RCOG guidelines?

      Your 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)

    • This question is part of the following fields:

      • Genetics
      4.2
      Seconds

  • Question 9 - Regarding Turner syndrome which of the following statements is true? ...

    Correct

    • Regarding Turner syndrome which of the following statements is true?

      Your 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.

    • This question is part of the following fields:

      • Genetics
      8.4
      Seconds

  • Question 10 - What is the mode of inheritance of beta Thalassemia? ...

    Correct

    • What is the mode of inheritance of beta Thalassemia?

      Your Answer: Autosomal recessive

      Explanation:

      Beta Thalassaemia is autosomal recessive.

    • This question is part of the following fields:

      • Genetics
      5.7
      Seconds

SESSION STATS - PERFORMANCE PER SPECIALTY

Genetics (9/10) 90%
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