Tutorial.
Website.
Contact us.
https://soundcloud.com/drtmcf/28-october-2013
There was mention of a recent paper on the use of cffDNA in conjunction with the combined test and various biomarkers.
It can be found here: http://onlinelibrary.wiley.com/doi/10.1002/uog.12511/pdf.
"First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing." Nicolaides, Wright, Poon, Syngelaki & Gil. Ultrasound in O&G. Vol. 42, Issue 1, pages 41-50, July 2013.
We started with an adverse incident report. Unfortunately I was late turning on the recording device, so this was not recorded.
This is probably a blessing in disguise as it will make you write your version/
Send it to me and I'll send my ideas on the subject.
Adverse incident report.
Candidate’s
instructions.
Mrs Penelope Jane Brown sustained a 4th.
degree tear after the delivery of her second baby.
Dr. James Peter White conducted the delivery
and was asked to write a statement for the Risk Management Team (RMT), to whom
the incident has been reported as an adverse clinical incident.
You have been asked to look at Dr. White’s
report, comment on it and identify issues
that the RMT need to explore further. You have 15 minutes to read Dr.
White’s report, after which you will have a viva with the examiner. The
examiner will not lead the discussion and will simply listen to what you have
to say.
Dr.
White’s Statement.
I am Dr. J. White. I have been SpR in
obstetrics and gynaecology at the Royal Infirmary for over a year.
On the 27th. September I was
bleeped by a midwife on the labour ward and asked to see a Mrs. Brown who
needed to be delivered as there had been delay in the second stage and she was
becoming exhausted.
On arrival on the labour ward I felt that Mrs.
Brown was not trying very hard to deliver the baby naturally and that the
midwives were not making much effort to encourage her. I advised that they
should get her pushing properly and that I would go for a coffee and return in
half an hour.
I returned in 50 minutes, having had a phone
call from my wife about arrangements for our forthcoming holiday. The situation
was unchanged and I was not impressed with either the woman’s endeavours or the
midwives’ encouragement of her.
Examination showed the head to be midcavity.
I felt that it could get it out using forceps. The midwives told me that her
bladder was empty. I applied the forceps with ease. The baby delivered in good
condition. I then noted that she had a 4th. degree tear. I repaired
this in the usual way.
I went on holiday the next day for two weeks
and did not see this woman again.
Then we had a roleplay about Down's screening with a woman who had read an article about a new test in the Daily Mail.
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.
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.
Ariosa Harmony
Test.
Flexible for
Multiple Patient Populations
The Harmony
Prenatal Test detects >99% of fetal trisomy 21 cases at a false positive
rate of <0.1%
Optional X and Y
chromosome analysis available for fetal sex and X,Y sex chromosome analysis.
This test does
not assess risk for mosaicism, partial trisomies or translocations.
The Harmony test
is available for all singleton and twin pregnancies, including those conceived
by IVF
The Harmony
Prenatal Test has been developed and is performed as a laboratory test service
by Ariosa Diagnostics, a CLIA-certified clinical laboratory located in
California, USA.
Ariosa™,
Harmony™, and Harmony Prenatal Test™ are trademarks of Ariosa Diagnostics, Inc.
©2013 Ariosa
Diagnostics, Inc. All rights reserved.
Customer
service: 1-855-9-ARIOSA (855-927-4672)
Then we had a viva on neonatal jaundice.
