1 May 2014
41.
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Roleplay. DS screening. Daily Mail article.
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42.
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Viva. Fragile X syndrome.
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43.
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Viva: neonatal jaundice.
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44.
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Roleplay. Androgen Insensitivity Syndrome.
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45.
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Roleplay. Sterilisation request.
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41. DS screening. Daily Mail article.
Candidate’s
instructions.
You are the SpR in the antenatal clinic. Mrs Smith, whom
you are about to see, wishes to discuss her risk of having a baby with Down’s
syndrome and appropriate screening. She has read a Daily Mail article about a
new test which she would be happy to pay for.
Your task is to take a history and discuss appropriate
management.
Daily Mail. June
2013.
For expectant parents, whether or not to test their
unborn child for Down’s syndrome can be an agonising decision.
Routine scans at ten and 13 weeks can flag up a
heightened risk of the condition, which causes lifelong disability and a host
of complex health problems.
But a definitive diagnosis can be given only after
amniocentesis, an invasive procedure that draws amniotic fluid from around the
baby with a needle and syringe – and brings with it a risk of miscarriage.
Now, Carolyn and Neil Blockley, who are expecting twins,
have become one of the first couples in the UK to benefit from a controversial
blood test that can accurately identify Down’s and eliminate the danger of the
traditional method.
More than 98 per cent accurate for twins and 99 per cent
accurate for a single baby, the new non-invasive Ariosa Harmony test – one of a
number of similar tests – requires no more than a blood sample drawn from the
pregnant woman’s arm.
However, disability campaigners believe that if such a
test were to become widely available, it would increase terminations of Down’s
babies – nine in ten women given the news choose to have an abortion.
At present, mothers to be are given a combined test for
the syndrome at the end of the first trimester. It comprises an ultrasound
known as a Nuchal Translucency (NT) scan, which measures the fluid behind the
baby’s neck, a larger amount of which can indicate Down’s, and a blood test,
which looks for hormones and proteins related to the syndrome.
The two results are combined to give a risk rating.
If the risk is high, then women are offered amniocentesis.
Because these hormones and proteins are already higher in
a multiple pregnancy, women expecting twins have only the NT scan – which is 80
per cent accurate. The combined test is 90 per cent accurate at best.
It was after the NT scan that doctors first alerted the
Blockleys to potential problems. Carolyn, 29, an accountant, from Pentre, Mid
Glamorgan, explains: ‘They said there was more fluid than was usual around one
baby’s neck. We were shocked when the doctor told us he thought it could be
Down’s syndrome. It was very upsetting as these are our first babies and I
hadn’t had any problems before.’
With amniocentesis, performed from 15 weeks, there is a
one in 100 chance of miscarriage – and with twins this risk is doubled.
Carolyn says: ‘Had I not had the new test, I would have
faced a terrible dilemma about whether or not to have an amniocentesis.
Although we would have wanted to know our babies were healthy, the thought we
could risk losing them was devastating.’
Thankfully for Carolyn, her consultant suggested having
the Ariosa test, which has been available privately since May. She chose the
screening at 12 weeks, and ten days later the results showed her babies were
healthy.
Now 17 weeks pregnant, she says: ‘It was a huge relief to
be given the all-clear. I’m looking forward to enjoying the rest of my
pregnancy without worry.’
The couple’s doctor, Dr Bryan Beattie, a consultant in
foetal medicine at the University Hospital of Wales, Cardiff, wants the NHS to
provide the test as a routine screening.
42. Viva. Fragile X syndrome.
This is an unstructured viva.
Your task is to tell the examiner what you think are the
key points about Fragile X syndrome.
43. Viva: neonatal jaundice.
Candidate's
Instructions.
This is a structured viva station.
The examiner will ask you 5 questions.
44. Roleplay. Androgen Insensitivity Syndrome.
Candidate's
Instructions.
This is a role-play station.
The patient is Anastasia Johnstone. She is 17 years old.
She attended the gynaecology clinic 1 month ago with primary amenorrhoea.
Clinical examination showed an apparently normal young
woman with normal breast development but absent pubic and axillary hair. The
external genitalia appeared normal. Vaginal examination was not attempted.
She has come today for the results of the ultrasound scan
and blood results.
The scan has shown absence of the uterus. There are no
ovaries in the pelvis. There are bilateral groin masses that could be gonads.
The blood tests which were done are reported as: Karyotype.
46XY.
Your tasks are to explain the results and answer her
questions.
45. Roleplay. Sterilisation request.
Candidate’s
Instructions.
You are a 5th. year SpR. You are about to see
Mrs. Mary Fecund in the gynaecology clinic. There is a referral letter from the
GP.
Read the letter and then conduct the consultation with
Mrs. Fecund as you would do in the clinic in your hospital.
Perfect Health Centre,
Paradise Lane,
Slagheap.
SLH 678.
Your ref: BRI 07/54843.
Re. Mary Fecund,
The Shoe,
High Street,
Slagheap.
Dear Doctor,
Please see Mrs Fecund who has too many children. She
wishes to be sure she has no more and has asked to be sterilised – one of her
friends was sterilised recently which has put her in the mood to have it done.
Yours sincerely,
Dr. John Williams.
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