Website
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34
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Role-play. Neonatal screening.
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35
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EMQ. Marfan syndrome
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Structured
discussion. Apgar score.
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37
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EMQ. Cystic fibrosis.
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38
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SBA. Cowden syndrome
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34. Role-play.
Neonatal screening.
Candidate’s instructions.
You are a SpR in year 5.
You are in the antenatal
booking clinic and about to see Mary Eccles. She has been booked in by a
midwife at 10 weeks’ gestation and all is well. She has recently arrived in the
UK from the USA and asked about the routine neonatal screening that is done in
the UK. She will be having the baby in the UK.
35. EMQ.
Marfan syndrome.
Marfan’s syndrome.
Lead-in.
Pick one option from the
option list. Each option can be used once, more than once or not at all.
Abbreviations.
AR: aortic
root.
ARD: aortic
root dilatation.
cf: ‘compare with’, derived from the
Latin word for ‘to compare’.
Mas: Marfan’s
syndrome.
Scenario 1.
Which, if any,
of the following statements are true in relation to Marfan syndrome?
Option list.
|
A
|
Mas is a connective
tissue disorder
|
|
B
|
Mas is an autoimmune
condition
|
|
C
|
Mas is due to defects in
fibrillin-1
|
|
D
|
Mas is due to mutation
of the FUN1 gene
|
|
E
|
only one variant of the
gene causes Mas
|
|
F
|
the unique variant of
the gene that causes Mas explains the uniform phenotype
|
|
G
|
inheritance is autosomal
dominant
|
|
H
|
inheritance is autosomal
recessive
|
|
I
|
inheritance is X-linked
recessive
|
Scenario 2.
Which, if any,
of the following is the incidence of Mas?
Option list.
|
A
|
~ 1 in 500
|
|
B
|
~ 1 in 5,000
|
|
C
|
~ 1 in 50,000
|
|
D
|
~ 1 in 500,000
|
Scenario 3.
What % of
cases arise from new mutations?
Option list.
|
A
|
5%
|
|
B
|
15%
|
|
C
|
20%
|
|
D
|
25%
|
|
E
|
30%
|
|
F
|
>30%
|
Scenario 4.
How many
mutations of the Marfan gene have been identified?
Option list.
|
A
|
< 100
|
|
B
|
101-200
|
|
C
|
201-300
|
|
D
|
301-400
|
|
E
|
401-500
|
|
F
|
>500
|
|
G
|
>1,000
|
|
H
|
>2,000
|
Scenario 5.
Which of the following
are features of the classical Mas?
Option list.
|
A
|
arachnodactyly
|
|
B
|
brachydactyly
|
|
C
|
cauda equina syndrome
|
|
D
|
ectopia lentil
|
|
E
|
frequenting of lax
joints
|
|
F
|
kyphosis
|
|
G
|
long long bones
|
|
H
|
scoliosis
|
|
I
|
tall stature
|
Scenario 6.
Which, if any,
of the following are features of the classical Mas?
Option list.
|
A
|
aortic coarctation
|
|
B
|
aortic dissection
|
|
C
|
aortic regurgitation
|
|
D
|
aortic root dilatation
|
|
E
|
aortic stenosis
|
|
F
|
mitral regurgitation
|
|
G
|
mitral stenosis
|
|
H
|
pulmonary hypertension
|
|
I
|
tricuspid regurgitation
|
|
J
|
tricuspid stenosis
|
Scenario 7.
Which, if any,
of the following are features of the classical Mas?
Option list.
|
A
|
cataract
|
|
B
|
chronic obstructive
airways disease
|
|
C
|
glaucoma
|
|
D
|
myopia
|
|
E
|
pulmonary bullous
changes
|
|
F
|
pulmonary fibrosis
|
|
G
|
recurrent pneumothorax
|
|
H
|
stretch marks
|
|
I
|
striae distensae
|
|
J
|
melanoma
|
Which, if any,
of the following are features of the classical Mas?
Option list.
|
A
|
cataract
|
|
B
|
chronic obstructive
airways disease
|
|
C
|
glaucoma
|
|
D
|
myopia
|
|
E
|
pulmonary bullous
changes
|
|
F
|
pulmonary fibrosis
|
|
G
|
recurrent pneumothorax
|
|
H
|
stretch marks
|
|
I
|
striae distensae
|
|
J
|
melanoma
|
Scenario 8.
Which, if any,
of the following are features of the classical Mas?
Option list.
|
A
|
cauda equina syndrome
|
|
B
|
dural ecstasy
|
|
C
|
dural ectasia
|
|
D
|
dural ectoplasm
|
|
E
|
hydrocephalus
|
Scenario 9.
What is the
generally accepted cut-off for aortic replacement in the non-pregnant?
Option list.
|
A
|
AR > 3 cm.
|
|
B
|
AR > 4 cm.
|
|
C
|
AR > 5 cm.
|
|
D
|
AR > 7.5 cm.
|
|
E
|
AR > 10 cm.
|
|
F
|
none of the above
|
Scenario 10.
What is the
generally accepted cut-off for high risk associated with pregnancy?
Option list.
|
A
|
AR > 3 cm.
|
|
B
|
AR > 4 cm.
|
|
C
|
AR > 5 cm.
|
|
D
|
AR > 7.5 cm.
|
|
E
|
AR > 10 cm.
|
|
F
|
none of the above
|
Scenario 11.
Which, if any,
of the following statements are true in relation to the maternal risks
associated with an AR greater than the high-risk cut-off?
Option list.
|
A
|
worsening aortic
dilatation
|
|
B
|
aortic dissection more
likely
|
|
C
|
aortic stenosis
|
|
D
|
cervical incompetence
more likely
|
|
E
|
ectropion lentis more
common
|
|
F
|
gestational hypertension
more common
|
|
G
|
HELLP syndrome more
common
|
|
H
|
hydramnios more common
|
|
I
|
pulmonary embolism more
common
|
Scenario 12.
Which, if any,
of the following statements are true in relation to the fetal risks associated
with maternal Mas?
Option list.
|
A
|
↑ risk of breech presentation at term
|
|
B
|
↑ risk of neural tube defect
|
|
C
|
↑ risk of perinatal mortality
|
|
D
|
↑ risk of preterm birth
|
|
E
|
25% risk of Mas
|
|
F
|
none of the above
|
TOG CPD. 2007. 19. 1. These are open access, so are reproduced here.
Pregnancy is associated with
1.
increased pulmonary blood flow. True / False
2.
decreased stroke volume. True / False
3. increased heart rate. True / False
Indication for elective caesarean section
includes
4.
aortopathy with aortic root > 4 cm. True / False
5.
aortic dissection or aneurysm. True / False
In women with congenital heart disease
predictors for adverse neonatal events include
6.
prior maternal cardiac event. True / False
7.
presence of left-to-right shunts. True / False
Regarding Marfan syndrome and pregnancy,
8.
the risk of aortic dissection or rupture is reduced. True / False
9.
overall maternal mortality is about 1 in 4. True / False
10.
aortic root diameter should be monitored throughout pregnancy. True / False
The offspring of a mother with congenital
heart disease
11.
are at increased risk of inheriting congenital heart disease. True / False
12.
are at increased risk of complications during the neonatal period. True / False
Tetralogy of Fallot is
13.
the most common form of cyanotic heart disease. True / False
14.
often associated with pulmonary regurgitation. True / False
In women with congenital heart disease
15.
ventouse delivery under epidural anaesthesia is generally recommended. True / False
16.
cardiac arrhythmia is one of the main primary cardiac events in pregnancy. True / False
In pregnant women with coarctation of the
aorta,
17.
blood pressure must be carefully controlled to avoid low birthweight. True / False
In women with transposition of the great
arteries
18.
even if this has been repaired, arrhythmia can occur in pregnancy. True / False
In women with cyanotic heart disease
without pulmonary hypertension
19 up
to 1 in 2 pregnancies end in premature delivery.
True / False
In women with pulmonary vascular disease
20 about
a third of pregnancies will result in intrauterine growth restriction. True / False
36. Structured
discussion. Apgar score.
Candidate's Instructions.
This is a viva station.
The examiner will ask you 8 questions.
37. EMQ.
Cystic fibrosis.
This question is
about cystic fibrosis.
For each scenario choose the option that gives the best answer.
Each option can be used once, more than once or not at all.
And, to make you
behave in a model fashion, there is no option list, so 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 is planning pregnancy. Her husband is a known carriers of cystic fibrosis. What is
the risk of having an affected child?
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 be
protein-deficient due to malabsorption.
Is
this advice correct?
Scenario 14.
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?
38. SBA.
Cowden syndrome.
Scenario 1.
Lead in.
Which feature is associated with Cowden syndrome?
Option list.
A. albinism
B. hamartoma
C. hammer-toe
D. hypertrichosis
E. stammer
Scenario 2.
Lead in. Which condition has
the highest risk of occurrence in women with Cs?
Option list.
A. breast cancer
B. bowel cancer
C. congenital absence of Müllerian tract
derivatives
D. hypertension
E. hypothyroidism
Scenario 3.
Lead in. Which gynaecological
cancer is a particular risk for women with Cs?
Option list.
A. Bartholin’s gland cancer
B. cervical cancer
C. choriocarcinoma
D. endometrial cancer
E. vulval cancer
Scenario 4.
Lead in.
Option list.
A. breast cancer
B. colon cancer
C. melanoma
D. renal cancer
E. thyroid cancer
F. all of the above
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