PBL 2 - Monica and Peter's First Child
Understanding Down Syndrome
Test your knowledge on Down Syndrome with our comprehensive quiz that covers various aspects of this condition, including genetics, diagnostics, and social impacts.
Engage with intriguing questions that will help you learn more about:
- Causes and types of Down Syndrome
- Medical and social implications
- Support systems available
- Ethical considerations in prenatal testing
Down syndrome occurs due to:
A deletion in chromosome 21
The presence of an additional copy of chromosome 21
A point mutation in chromosome 21
A nonsense mutation in chromosome 21
None of the Above
Standard trisomy-21 is the most common form of Down Syndrome. This occurs due to:
Incomplete maturation of DNA and genes in the sex cells
The diet of the mother during pregnancy
The nondisjunction of chromosome 21 in the production of sex cells
The inactivation of p53
All of the Above
Mosaic Down Syndrome is a much rarer form the disease and accounts for only about 1% of cases. Mosaic Down Syndrome occurs as a result of:
Inactivation of enzymes in sex cells
Errors during early mitotic division
Over-activation of enzymes in sex cells
Any one of the parents being over-exposed to carcinogens such as benzopyrene
None of the above
Which of the following is correct about translocation Down Syndrome?
It is the only inheritable form Down Syndrome
It only occurs between chromosome 14 and 21
It is only found in Western countries
None of the above
All of the above
Which of the following is not a lifelong biological impact of someone suffering from Down Syndrome?
Reduced immunity
Reduced ability to burn calories
Vision impairments
Dry skin and hair
Heart defects
Increased perception/recognition of pain
Learning difficulties
Which of the following is not a lifelong social impact of someone suffering from Down Syndrome?
Dependency and lack of autonomy
Social stigma
Relationship barriers
Inability to work
All of the above
There are a range of support services available for individuals/families suffering from Down Syndrome. Which of the following is not considered a professional support service/organisation for this disease?
GP
Hospital social worker
Doctors
Nurses
Maternal/Child Health Services
Genetic Counselling
Local Council
None of the above
True or False: Screening tests are more accurate than diagnostic tests.
True
False
True or False: Screening tests are non-invasive while diagnostic tests are.
True
False
Which of the following is not covered by Medicare (more than 1 answer)?
GP visit to learn about Down Syndrome
Screening test
Genetic Counselling
Diagnostic testing
Maternal Health access at public hospital
There is a “dual obligation” associated with any form of prenatal testing or diagnosis – obligation to the mother and obligation to the child. Physicians should aim to fulfil their obligations to both these individuals, while still considering the 4 major ethical concepts in medicine. What are some of the ethical issues that arise with prenatal testing with respect to the Autonomy Principle? (sample answer is available)
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