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14
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EMQ. Cystic fibrosis.
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15
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EMQ. Turner’s
syndrome
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47
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A woman attends the pre-pregnancy counselling clinic. She plans her
second pregnancy in the near future. Her sister recently had a baby with
Down’s syndrome.
1. Outline and justify your agenda for the
discussion. 4 marks
2. Critically evaluate the investigations you
will arrange. 4 marks
3.
Justify the key information you will include. 12 marks
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48
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A 30-year-old woman with
thalassaemia major attends for pre-pregnancy counselling.
1. Justify the history you will take. 4 marks
2. Detail the investigations you will arrange. 6 marks
3. Outline the issues you will discuss in relation to
risks of pregnancy.
5 marks
4 Outline the management of pregnancy in cases of
thalassaemia major.
5 marks
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49
|
A
nulliparous woman is found to have hydrops fetalis on a routine 20 week
anomaly scan.
1. List the main causes of hydrops
fetalis. 12 marks.
2. Outline the key investigations. 8 marks
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50
|
A woman of 48 is referred
with erratic vaginal bleeding for six months. She has had an intra-uterine
contraceptive in place for five years. She has occasional hot flushes.
1. Justify the things you will focus on in taking her
history. 6 marks
2. Justify the investigations you will
perform. 6 marks
3. Justify the advice you will
give. 8 marks
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This question is about cystic fibrosis.
To make you behave in a model fashion, there is no
option list: you have to decide the
correct answer.
Scenario 1.
A woman is 8 weeks pregnant and known to be a
carrier of cystic fibrosis.
Her husband is Caucasian.
What is the risk of the child having cystic
fibrosis?
Scenario 2.
A healthy woman attends for pre-pregnancy
counselling.
Her brother has cystic fibrosis. Her husband is
Caucasian.
He has been screened for cystic fibrosis. The test
was negative.
What is the risk of them having a child with cystic
fibrosis?
Scenario 3.
A healthy woman is a known carrier of cystic
fibrosis.
She attends for pre-pregnancy counselling. Her
husband has cystic fibrosis.
What is the risk of them having a child with CF?
Scenario 4.
A healthy woman attends for
pre-pregnancy counselling. Her sister has had a child with cystic fibrosis.
What is her risk of being a carrier?
Scenario 5.
A woman attends for pre-pregnancy counselling. Her
mother has cystic fibrosis.
What is the risk that she is a carrier?
Scenario 6 .
A woman attends for pre-pregnancy counselling. Her
mother has cystic fibrosis.
The partner’s risk of being a carrier is 1 in X.
What is the risk that she will have a child with
CF?
Scenario 7.
A healthy Caucasian woman is 10 weeks pregnant.
Her husband is a known carrier of cystic fibrosis.
Which test would you arrange?
Scenario 8.
A woman attends for pre-pregnancy counselling. She
has read about diagnosing CF using cffDNA from maternal blood. Is it possible
to test for CF in this way?
Scenario 9.
A woman and her husband are known carriers of
cystic fibrosis.
What is the risk of them having an affected child.
Scenario 10.
A woman and her husband are known carriers of
cystic fibrosis.
What can they do to reduce the risk of having an
affected child?
Scenario 11.
A woman and her husband are known carriers of
cystic fibrosis.
Can CVS exclude an affected pregnancy?
Scenario 12.
A woman with cystic fibrosis has a normal delivery
of a healthy, 3.2 kg. baby at term. She has been advised not to breastfeed
because her breast milk will be protein-deficient due to malabsorption.
Is this advice correct?
Scenario 13.
A woman with cystic fibrosis has a normal delivery
of a healthy, 3.2 kg. baby at term. She has been advised not to breastfeed
because her breast milk will contain abnormally low levels of sodium.
Is this advice correct?
Turner’s syndrome.
This is supposed to be an EMQ, but some of the
questions are MCQ with “True” and “False” answerst. It includes everything I
think you might be asked about Turner’s.
Option list.
There is no option list.
Questions.
1.
TS is due to 45XO.
2.
What is the incidence of TS?
3.
The incidence of TS rises with maternal age? .
4.
Most cases of TS are due to loss of a paternal
chromosome.
5.
How common in monosomy X in TS?
6.
How common is monosomy Y in TS?
7.
What % of miscarriages are due to TS?
8.
What % of TS pregnancies miscarry?
9.
↑ NT is a feature of TS
10. ↑
NT is a feature of congenital heart disease
11. Low birth weight is a feature of TS. .
12. If
TS is suspected, but the neonate’s karyotype from blood testing is normal, the
diagnosis is Noonan’s syndrome. .
13. Neonates
are at normal risk of developmental dysplasia of the hip.
14. Immune
hydrops is more common in TS.
15. Cystic
hygroma is more common in TS.
16. What
is the approximate risk of malignancy if there is XY mosaicism in TS?
17. How
common is webbing of the neck in TS?
18. How
common is a low occipital hairline in TS?
19. How
common is congenital heart disease in TS?
20.
Dissecting aortic aneurysm is more common in TS.
21. How
common is lymphoedema in TS?
22. How
common is kidney disease in TS?
23. Short
stature in TS has been linked to the TS gene.
24. What
% of adolescents with TS have scoliosis. .
25. Inverted
nipples are more common in TS.
26. 1ry. amenorrhoea occurs in all
cases.
27. Adrenarche
occurs at a normal time.
28. Cubitus
valgus is more common in TS.
29. Cleft
palate if a feature of TS.
30. Micrognathia
is a feature of TS.
31. Abnormalities
of teeth and nails are more common in TS.
32. Otitis
media is more common in TS.
33. Intelligence is usually lower in TS, especially verbal skills.
34. Women
with TS have higher mortality rates than other women..
35. Oestrogen
should be started on diagnosis to promote bone growth. .
36. Oestrogen-only HRT is appropriate for bone protection.
37. Women with TS have an ↑ risk
of hypertension.
38. Women with TS have an ↑ risk
of coeliac disease.
39. Women with TS have an increased risk of Crohn’s disease and
ulcerative colitis.
40. Women
with TS have an ↑ risk of diabetes
41. Women
with TS have an ↑ risk of hyperthyroidism.
42. Women with TS have an ↑ risk of deafness. .
43. Women
with TS have an ↑ risk of osteoporosis.
44. Women
with TS have similar rates of red-green colour blindness to men.
45. Women
with TS have a normal incidence of ptosis.
46. Women
with TS cannot have children.
47. The “short stature homeobox” (SHOX) gene has been implicated in TS
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