Archives: MSRA

MSRA-0863

A 35-year-old woman is pregnant with her first child. She is offered screening for chromosomal abnormalities and an ultrasound assessment.
She decides to proceed with testing, which assesses nuchal thickness, pregnancy-associated plasma protein-A (PAPP-A), free beta-human chorionic gonadotrophin (β-hCG) and crown-rump length. She is told the pregnancy is a high risk for Down syndrome, and she and her partner are offered an amniocentesis.
Which one of the following statements regarding amniocentesis is correct?

MSRA-0834

A 28-year-old pregnant woman presents to the GP with jaundice and itchy skin for the past 2 weeks. She claims that is a lot worse during this pregnancy compared to her last one. History reveals that she is currently 30 weeks pregnant with no complications up until presentation.

On examination, the only notable findings are mild jaundice seen in the sclerae, as well as excoriations around the umbilicus and flanks. She denies any tenderness in her abdomen during the examination. Blood tests show the following:

ALT 206 U/L
AST 159 U/L
ALP 796 umol/l
GGT 397 U/L
Bilirubin (direct) 56 umol/L
Bile salts 34 umol/L
Bile salts reference range 0 – 14 umol/L

What is the most likely diagnosis?

MSRA-0835

A 35-year-old expectant mother seeks guidance regarding the likelihood of her child inheriting polycystic kidney disease. Despite her diagnosis, she is presently in good health. Her father, who also has the condition, is currently undergoing dialysis. What is the probability that her offspring will develop the disease?

MSRA-0836

A 25-year-old man collapses while playing basketball with his friends on a weekend. He is brought to the emergency department but is pronounced dead after experiencing cardiac arrest, despite receiving adequate life support. His family is in shock and cannot comprehend how this could have happened, as he was always healthy and an avid athlete. However, they do mention that two other family members have also died young under similar circumstances.

What is the correct method of inheritance for this condition?

MSRA-0837

A patient in her 40s comes in with concerns about her family history of cancer. Which type of cancer is the least likely to be passed down through genetics?

MSRA-0838

A 27-year-old man visits his doctor with worries about his increased risk of breast cancer due to his sister’s recent diagnosis at the age of 30 years with a BRCA2 mutation. He is considering getting tested for the mutation. If he were to test positive for BRCA2, what other type of cancer would he be at a higher risk for?

MSRA-0839

A 16-month-old child has been referred to the haematology team due to painful bone swellings in the hands and feet, along with a positive family history of sickle cell disease. What is the mode of inheritance for this condition?

MSRA-0840

A 25-year-old woman is seeking your assistance in getting a referral to a clinical geneticist. She has a family history of Huntington’s disease, with her grandfather having died from the condition and her father recently diagnosed. She wants to learn more about the disease and its genetic inheritance. Which of the following statements is accurate?

MSRA-0841

You assess a teenager in clinic with a diagnosis of muscular dystrophy. He struggles to stand up, using his arms to assist him in rising from a squat. What is this maneuver called?