Thursday, 27 August 2015

27th. August 2015


Contact us.

27 August 2015.

 The PowerPoint slides that Claire Candelier will use for her tutorial on diabetes are on Dropbox. If you don't have access, send me an e-mail.

53
Diabetes & pregnancy. Claire Candelier
54
SBA. Coeliac disease & pregnancy
55
SBA. Grades of evidence
56
SBA. Kisspeptin
57
SBA. Instrumental delivery
58
SBA. Morphology of skin definitions
59
SBA. Neonatal convulsions
60
SBA. NIPT. Non-invasive prenatal testing.

53. Diabetes & pregnancy.
Claire Candelier will give a tutorial. You need to download the Powerpoint slides from the folder “Materials for the tutorials” on Dropbox.

54. SBA. Coeliac disease & pregnancy.
Abbreviations.
AGA:     anti-gliadin antibodies 
CD:        coeliac disease.
EMA:    anti-endomysial antibodies. 
FGR:      Fetal growth restriction.
IgA:       immunoglobulin A IgG. 
tTGA:    anti-tissue transglutaminase antibody.

Question 1.
Lead-in
What is coeliac disease?
Option List
A.       
allergy to gluten
B.       
malabsorption due to large bowel inflammation
C.       
an auto-immune disorder triggered by gluten sensitivity causing villous atrophy of the descending colon in individuals with a genetic predisposition
D.       
an auto-immune disorder triggered by gluten sensitivity causing villous atrophy of the gastric mucosa in individuals with a genetic predisposition
E.        
an auto-immune disorder triggered by gluten sensitivity causing villous atrophy of the small bowel in individuals with a genetic predisposition

Question 2.
Lead-in
What is the prevalence of coeliac disease in women of reproductive age?
Option List
A.       
0.1%
B.       
0.5%
C.       
1-2 %
D.       
2-5%
E.        
5-10%

Question 3.
Lead-in
Which of the following groups have an increased risk of CD?
Option List
A.       
1st. degree relatives of those with CD
B.       
those with type 1 diabetes
C.       
those with iron deficiency anaemia
D.       
those with osteoporosis
E.        
those with unexplained infertility

Question 4.
Lead-in
Which of the following are features of CD in the non-pregnant population?
Option List
A.       
abdominal bloating and pain
B.       
amenorrhoea
C.       
anaemia
D.       
recurrent miscarriage
E.        
unexplained infertility

Question 5.
Lead-in
How do pregnant women with CD present most commonly?
Option List
A
anaemia
B
failure to gain weight in pregnancy
C
intra-uterine growth retardation
D
low BMI
E
no recognised abnormality

Question 6.
Lead-in
Which of the following commonly occur in pregnant women with CD?
Option List
A
anaemia
B
failure to gain weight in pregnancy
C
intra-uterine growth retardation
D
low BMI
E
no recognised abnormality

Question 7.
How should the woman with suspected CD be investigated initially?
Option List
A.       
jejunal biopsy
B.       
IgA EMA
C.       
IgA tTGA
D.       
IgA EMA + IgA tTGA
E.        
rectal biopsy

Question 8.
Lead-in
Which, if any, of the following statements are true in relation to the woman due to have testing for suspected CD?
Option List
A.       
continue with a normal diet.
B.       
continue with a normal diet that includes a minimum of 5 gm. gluten daily
C.       
continue with a normal diet that includes a minimum of 10 gm. gluten daily
D.       
follow a strict gluten-free diet for at least 1 month
E.        
follow a strict gluten-free diet for at least 3 months

Question 9.
Lead-in
Which of the following conditions should make consideration of testing for CD sensible?
Option List
A.       
amenorrhoea
B.       
Down’s syndrome
C.       
epilepsy
D.       
recurrent miscarriage
E.        
Turner’s syndrome
F.        
unexplained infertility

Question 10.
Lead-in
How is the diagnosis of CD confirmed after +ve serological testing?
Option List
A.       
colonoscopy
B.       
enteroscopy
C.       
gastroscopy
D.       
rectal biopsy
E.        
small bowel  biopsy

Question 11.
Lead-in
Which skin condition is particularly associated with CD?
Option List
A.       
atopic eczema
B.       
dermatitis herpetiformis
C.       
dermatitis multiforme
D.       
dermatographia
E.        
psoriasis

Question 12.
Lead-in
Which of the following are likely to be absorbed less well than normally in women with CD?
Option List
A.       
carbohydrate
B.       
fat
C.       
folic acid
D.       
protein
E.        
vitamins B12, D & K

Question 13.
Lead-in
What is the appropriate treatment of CD?
Option List
A.       
antibiotics: long-term in low-dosage
B.       
azathioprine
C.       
cyclophosphamide
D.       
rectal steroids
E.        
none of the above

Question 14.
Lead-in
Which of the following do not contain gluten?
Option List
A.       
barley
B.       
oats
C.       
rapeseed oil
D.       
rye
E.        
wheat

55. SBA. Grades of evidence.
Lead-in. This question relates to the Green-top and other RCOG guidelines and how evidence is evaluated and given importance.
There have been occasional questions on this, so knowing about it might be worth a mark or two.

Question 1.
Which of the following statements, if any, are true.
         i.             
CNST requires consultants to follow the advice in GTGs
       ii.             
CNST requires consultants to follow the advice in GTGs, unless the consultant has phoned the CNST to obtain permission for alternative management
     iii.             
Consultants deviating from the advice in a GTG should send details to the hospital lawyer
     iv.             
Consultants are responsible for the decisions they make about patient care and can choose to deviate from the advice in GTGs.
       v.             
A consultant choosing different care for a patient to that in a guideline should fully document the decision at the time it is made.
     vi.             
Pick the option from the list below that best fits.
Option List


  1.  
i

  1.  
ii

  1.  
iii

  1.  
iii + iv

  1.  
iv + v

Question 2.
Lead-in
Grade A recommendations have specific requirements. Choose the option from the list below that best fits.
Option List

  1.  
a positive Cochrane review is a requirement for a Grade A recommendation

  1.  
a Grade A recommendation can be based on high-quality systematic reviews of case series

  1.  
a Grade A recommendation can be based on a single systematic review or RCT.

  1.  
a Grade A recommendation must include a meta-analysis or systematic review of RCTs

  1.  
a Grade A recommendation can be an extrapolation from studies graded 2++ or better.

Question 3.
Lead-in
Which, if any, of the following statements are true about Grade A recommendations.
         i.             
≥ 1 meta analysis or systematic review can be sufficient for a Grade A recommendation
       ii.             
≥ 1 RCT rated 1++ and applicable to the target population can be sufficient for a Grade A recommendation
     iii.             
a systematic review of RCTs can be sufficient for a Grade A recommendation
     iv.             
studies rated as 1+ which are applicable to the target population and with consistent  results can be sufficient for a Grade A recommendation

Option List

  1.  
i

  1.  
i + ii

  1.  
i + iii

  1.  
all of the above

  1.  
none of the above

Question 4.
Lead-in
What other grades are there?

Question 5.
Lead-in
What criteria are associated with these other grades?

56. SBA. Kisspeptin.
Lead-in.
Pick the best answer from the list below about kisspeptin.
Option list.
A.       
is a pheromone released by the hypothalamus during passionate embraces
B.       
is a digestive enzyme released by the salivary glands during passionate embraces
C.       
is a digestive enzyme found in human carnivores but not vegetarians
D.       
does not exist
E.        
is thought necessary for trophoblastic invasion and low levels have been linked to miscarriage and recurrent miscarriage

57. SBA. Operative vaginal delivery. OVD.  Based on work done by Aqeela Ayaz.

Question 1.
Lead-in. The use of which of the following is categorised as instrumental delivery?
A.       
forceps delivery
B.       
vacuum delivery
C.       
manual rotation
D.       
delivery with the Odent device
E.        
delivery with Credé’s manoeuvre
Option List
1.        
A + B
2.        
A + B + D
3.        
A + B + C + D
4.        
A + B + D + E
5.        
A + B + C + D + E

Question 2.
Lead-in. The following are included in the recommended classification of instrumental delivery in GTG26 with which exception?
Option List
A.       
outlet
B.       
low
C.       
mid with sagittal suture ≤ 450 from the OA position
D.       
mid with sagittal suture > 450 from the OA position
E.        
high

Question 3.
Lead-in
What is the incidence of OVD in the UK?
Option List
A.       
≤ 5%
B.       
>5 % but <10%
C.       
≥10 % but <15%
D.       
≥15 % but <20%
E.        
≥20%

Question 4.
Lead-in. What has been the trend in the incidence of OVD in the UK in recent years?
Option List
A.       
the incidence has not changed significantly
B.       
the incidence has increased by 25%
C.       
the incidence has increased by 50%
D.       
the incidence has decreased by 25%
E.        
the incidence has decreased by 50%

Question 5.
Lead-in. Which, if any, of the following features would be grounds for considering OVD?
A.       
suspected fetal compromise
B.       
meconium staining of the liquor
C.       
maternal pyrexia
D.       
maternal myotonic dystrophy
E.        
paternal myotonic dystrophy
F.        
nullipara who has been “pushing” for 2 hours without evidence of continuing progress
G.       
multipara who has been “pushing” for 2 hours without evidence of continuing progress
Option List
1.        
all of the above
2.        
all of the above except B + C
3.        
all of the above except B + C + E
4.        
all of the above except B + C + D + E
5.        
none of the above
Question 6.
Lead-in. In relation to consent for OVD with the woman remaining in the delivery room, which, if any of the following statements are true.
Option List
A.       
It can safely be assumed that all women capable of giving consent will have heard of OVD and no information on the subject needs to be given during antenatal care.
B.       
It cannot safely be assumed that all women capable of giving consent will have heard of OVD.
C.       
All women should be informed during antenatal care about the possibility of OVD being required.
D.       
All women should be given enough information orally and in written form during antenatal care to ensure that they can give informed consent for OVD if required.
E.        
All women should be given enough information orally and in written form during antenatal care to ensure that they can give informed consent for OVD and be asked to sign a consent form for OVD to ensure that there is valid consent if OVD is required.

Question 7.
Lead-in. In relation to consent for OVD with the woman transferred to theatre, which, if any of the following statements are true.
Option List
A.
It can safely be assumed that all women capable of giving consent will have heard of OVD and no information on the subject needs to be given during antenatal care.
B.
It cannot safely be assumed that all women capable of giving consent will have heard of OVD.
C.
Verbal consent suffices.
D.
Written consent should be obtained.
E.
Written consent should be obtained before attempting OVD for both OVD and Caesarean section in case OVD fails.

Question 8.
Lead-in. Which, if any, of the following measures can reduce the need for OVD?
A.       
continuous support in labour, particularly by a supporter who is not a member of the labour ward team
B.       
consumption of raspberry tea in labour
C.       
use of erect or lateral position in labour
D.       
delaying pushing in primiparae
E.        
use of a personalised partogram taking account of height, BMI, ethnicity
Option List
1.        
A + B
2.        
A + B + D
3.        
A + C + D
4.        
A + C + D + E
5.        
A + B + C + D + E

Question 9.
Lead-in. Which, if any, of the following are not contra-indications to the use of the vacuum extractor?
Option List
A.       
blood-borne viral infection of mother
B.       
gestational age less than 34 weeks
C.       
asynclitism
D.       
mento-anterior face presentation
E.        
mento-posterior face presentation
F.        
breech presentation

Question 10.
Lead-in. What are the pre-requisites for OVD?
There is no option list – just jot down as many as you can think of.

Question 11.
Lead-in. Which, if any, of the following statements are true when vacuum extraction (VE) is compared with forceps delivery?
Option List
A.       
VE has a higher risk of failed delivery
B.       
VE has an increased risk of cephalo-haematoma
C.       
VE has an increased risk of risk of maternal retinal haemorrhage
D.       
VE has an increased risk of neonatal retinal haemorrhage
E.        
VE has an increased risk of maternal worry about the baby
F.        
VE has an increased risk of perineal trauma
G.       
VE has an increased risk of vaginal trauma
H.       
VE has an increased risk of Caesarean section
I.         
VE has a decreased risk of low Apgar score at 5 minutes
J.         
VE has a decreased risk of the baby needing phototherapy

Question 12.
Lead-in. How do forceps and the different types of vacuum extractor rank in the likelihood of achieving vaginal delivery?
Option List
A.       
forceps, hand-held vacuum extractor, metal cup vacuum extractor, soft cup vacuum extractor
B.       
forceps, hand-held vacuum extractor, soft cup vacuum extractor, metal cup vacuum extractor
C.       
forceps, metal cup vacuum extractor, hand-held vacuum extractor, soft cup vacuum extractor
D.       
forceps,  metal cup vacuum extractor,  soft cup vacuum extractor hand-held vacuum extractor
E.        
forceps, soft cup vacuum extractor, metal cup vacuum extractor, hand-held vacuum extractor

Question 13.
Lead-in. What is the role of episiotomy in OVD? Which, if any, of the following statements are true?
Option List
A.       
episiotomy should be done in all primiparous women and all multiparous women who have had episiotomy before
B.       
episiotomy should not be done unless 3rd. of 4th. degree tears are anticipated
C.       
a policy of liberal use dependent on the operator’s judgement is advocated in GTG26
D.       
a policy of restrictive use dependent on the operator’s judgement is advocated in GTG26
E.        
GTG26 does not advise

Question 14.
Lead-in. When should attempted OVD be abandoned?
Option List
A.       
after 3 pulls
B.       
when there is no progressive descent
C.       
when, using moderate traction,  there is no progressive descent or delivery is not imminent after 3 pulls
D.       
when there is no progressive descent or delivery is not imminent after 3 pulls
E.        
when the operator needs a rest

Question 15.
Lead-in
When should a clinical incident form be submitted after OVD?
Option List
A.       
all OVDs
B.       
all OVDs that fail to deliver the baby
C.       
all OVDs with an adverse outcome
D.       
all OVDs with an adverse outcome excluding failure to deliver the baby
E.        
all OVDs with injury to the baby or low 5-minute Apgar scores

Question 16.
Lead-in.
What is the main reason for medical litigation in relation to OVD
Option List
A.       
sneezing during traction
B.       
not abandoning the procedure at the appropriate time
C.       
pulling too hard, too long or too many times
D.       
using more than one instrument
E.        
failure to push the head up when C section is needed to deliver the baby

Question 17.
Lead-in
What advice is given in GTG26 in relations to sequential use of instruments for OVD.
Option List
A.       
sequential use should be avoided if possible
B.       
sequential use increased the risk of trauma to the baby
C.       
sequential use increases the risk of the neonate needing mechanical ventilation
D.       
sequential use may particularly indicated with outlet deliveries
E.        
all of the above
F.        
some of the above, but I don’t know which.

Question18.
Lead-in. With regard to prophylactic antibiotics for OVD, which, if any, of the following statements is true?
Option List
A.       
a broad spectrum antibiotic + metronidazole should be prescribed and continued for 5 days
B.       
erythromycin + metronidazole or clindamycin should be prescribed and continued for 5 days
C.       
a broad spectrum antibiotic + metronidazole should be prescribed initially and the drugs reviewed with the results of rectal and vaginal swabs taken at delivery. The final drug regime should be continued for 5 days
D.       
prophylactic antibiotics should be decided with advice from the bacteriologist to reflect local trends in infecting organism and antibiotic sensitivity for genital and urinary tract infections.
E.        
prophylactic antibiotics are not required.

Question 19.
Lead-in. What prophylaxis should be provided after OVD to reduce the risk of DVT & VTE
Option List
A.       
early mobilisation and good hydration unless the woman has thrombophilia
B.       
early mobilisation, good hydration, graded compression stockings + warfarin
C.       
early mobilisation, good hydration, graded compression stockings + LMWH
D.       
early mobilisation, good hydration, graded compression stockings + warfarin
E.        
none of the above

Question 20.
Lead-in. What pain relief should be prescribed after OVD?
Option List
A.       
aspirin
B.       
aspirin + codeine
C.       
aspirin + codeine + paracetamol
D.       
paracetamol and diclofenac
E.        
paracetamol and ibuprofen

Question 21.
Lead-in. Which, if any, of the following would represent minimum bladder care after OVD in women not having regional anaesthetic blocks?
Option List
A.       
documentation of the timing and volume of the first void
B.       
24 hour input / output chart
C.       
self-reporting of voiding difficulty
D.       
physiotherapy-directed strategies to reduce risk of UI
E.        
bladder training

Question 22.
Lead-in. Which, if any, of the following would represent minimum bladder care after OVD in women who have had regional anaesthetic blocks topped up for trial of OVD?
Option List
A.       
indwelling catheter for ≥ 12 hours
B.       
input / output charting to ensure good voiding volumes
C.       
self-reporting of voiding difficulty
D.       
physiotherapy-directed strategies to reduce risk of UI
E.        
bladder training

Question 23.
Lead-in. How effective is physiotherapist-provided intervention in reducing UI after OVD?
Option List
A.       
it reduces UI from about 50% to about 40%
B.       
it reduces UI from about 50% to about 30%
C.       
it reduces UI from about 40% to about 30%
D.       
it reduces UI from about 40% to about 20%
E.        
it doesn’t work at all – it is just a measure to keep women happy that something is being done

Question 24.
Lead-in. After OVD, the pre-discharge review is best done by whom?
Option List
A.       
a midwife with de-briefing skills
B.       
the senior midwife on the postnatal ward
C.       
the doctor who performed the delivery
D.       
the consultant under whose care the woman booked
E.        
the SpR on-call for the postnatal wards

Question 25.
Lead-in. GTG26 mentions that OVD can be linked to women developing a PTST syndrome with severe fear of childbirth. What is this called?
Option List
A.       
androphobia
B.       
iatrophobia
C.       
parturophobia
D.       
spermatophobia
E.        
tocophobia

Question 26.
Lead-in. What advice does GTG give about strategies to reduce the risk of tocophobia.
Option List
A.       
midwife de-briefing is effective but to only a small extent
B.       
operator de-briefing is more effective than midwife de-briefing
C.       
combined midwife & operatory de-briefing is the most effective intervention
D.       
fortnightly visits to the same hospital antenatal team are of proven value
E.        
there are no interventions of proven value

Question 27.
Lead-in. What proportion of women at 3 years after OVD indicate that they plan not to have further children?
Option List
A.       
5%
B.       
10%
C.       
25%
D.       
50%
E.        
100%

Question 28.
Lead-in. What advice should women be given about future deliveries after OVD?
Option List
A.       
aim for normal delivery
B.       
best with planned Caesarean section
C.       
anticipate likely need for OVD
D.       
best not to get pregnant

58. SBA. Morphology of skin definitions
Morphology: definitions of descriptive terms.
For each of the terms below, choose the definition from the option list.

Question 1.
Lead-in
What is the definition of “macule”?
Option List

  1.  
non-palpable lesion < 5mm.

  1.  
non-palpable lesion  ≥ 5mm but < 10 mm.

  1.  
non-palpable lesion ≥ 10 mm.

  1.  
palpable lesion < 5 mm.

  1.  
palpable lesion ≥ 5 mm.

Question 2.
Lead-in
What is the definition of “patch”?
Option List

  1.  
non-palpable lesion < 5mm.

  1.  
non-palpable lesion  ≥ 5mm.

  1.  
non-palpable lesion  ≥ 5mm but < 10 mm.

  1.  
palpable lesion < 5 mm.

  1.  
palpable lesion ≥ 5 mm.

Question 3.
Lead-in
What is the definition of “papule”?
Option List

  1.  
Non-palpable lesion, >5mm

  1.  
Palpable lesion  <5mm

  1.  
Palpable lesion  ≥5mm

  1.  
Palpable lesion, wider than it is tall

  1.  
Lesion filled with clear fluid  <5mm

Question 4.
Lead-in
What is the definition of “plaque”?
Option List

  1.  
Non-palpable lesion, >5mm

  1.  
Palpable lesion  <5mm

  1.  
Palpable lesion  ≥5mm

  1.  
Palpable lesion that is, wider than it is tall

  1.  
Dental lesion that can lead to inflammatory gum disease
Question 5.
Lead-in
What is the definition of “nodule”?
Option List

  1.  
Non-palpable lesion, >5mm

  1.  
Palpable lesion  <5mm

  1.  
Palpable lesion  ≥5mm

  1.  
Palpable lesion that is wider than it is tall

  1.  
Lesion filled with clear fluid ≥ 5mm

Question 6.
Lead-in
What is the definition of “papule”?
Option List

  1.  
Non-palpable lesion, >5mm

  1.  
Palpable lesion  <5mm

  1.  
Palpable lesion  ≥5mm

  1.  
Palpable lesion that is wider than it is tall

  1.  
Lesion filled with clear fluid ≥ 5mm

Question 7.
Lead-in
What is the definition of “bulla”?
Option List

  1.  
Palpable lesion < 5 mm.

  1.  
Lesion filled with clear fluid < 5mm.

  1.  
Lesion filled with clear fluid ≥ 5mm

  1.  
Lesion filled with purulent fluid < 5mm.Purulent fluid filled lesion

  1.  
Superficial structure lined with epithelium.

Question 8.
Lead-in
What is the definition of “pustule”?
Option List

  1.  
Palpable lesion < 5 mm.

  1.  
Lesion filled with clear fluid < 5mm.

  1.  
Lesion filled with clear fluid ≥ 5mm

  1.  
Lesion filled with purulent fluid.

  1.  
Superficial structure lined with epithelium.

Question 9.
Lead-in
What is the definition of “cyst”?
Option List

  1.  
Palpable lesion < 5 mm.

  1.  
Lesion filled with clear fluid < 5mm.

  1.  
Lesion filled with clear fluid ≥ 5mm

  1.  
Lesion filled with purulent fluid < 5mm.Purulent fluid filled lesion

  1.  
Superficial structure lined with epithelium.

Question 10.
Lead-in
What is the definition of “vesicle”?
Option List

  1.  
Palpable lesion < 5 mm.

  1.  
Lesion filled with clear fluid < 5mm.

  1.  
Lesion filled with clear fluid ≥ 5mm

  1.  
Lesion filled with purulent fluid < 5mm.Purulent fluid filled lesion

  1.  
Superficial structure lined with epithelium.

59. SBA. Neonatal convulsions
Scenario 1.
Lead-in
Approximately what proportion of neonates will have convulsions?
Pick one option from the list below.
Option List
A.       
0.1%
B.       
    1%
C.       
    5%
D.       
   10%
E.        
   15%

Scenario 2.
Lead-in
Approximately what proportion of neonatal convulsions occur in the first week?
Pick one option from the list below.
Option List

  1.  
5%

  1.  
10%

  1.  
25%

  1.  
50%

  1.  
80%

Scenario 3.
An audit is done of babies born at term who develop convulsions in the 12 hours after delivery.
Lead-in
What is likely to be the most common diagnosis?
Pick one option from the list below.
Option List

  1.  
hypoxic ischaemic encephalopathy

  1.  
intracranial haemorrhage

  1.  
neonatal epilepsy

  1.  
sepsis

  1.  
hypoglycaemia

Scenario 4.
An audit is done of babies born at < 34 weeks who develop convulsions in the 12 hours after delivery.
Lead-in
What is likely to be the most common diagnosis?
Pick one option from the list below.
Option List

  1.  
hypoxic ischaemic encephalopathy

  1.  
intracranial haemorrhage

  1.  
neonatal epilepsy

  1.  
sepsis

  1.  
hypoglycaemia

Scenario 5.
Lead-in
What is the approximate risk of neonatal convulsions in babies born at term?
Pick one option from the list below.
Option List

  1.  
< 0.1%

  1.  
<    1%

  1.  
      1%

  1.  
      2%

  1.  
      5%

Scenario 6.
Lead-in
What is the approximate risk of neonatal convulsions in babies born at < 34 weeks?
Pick one option from the list below.
Pick one option from the list below.
Option List

  1.  
 1%

  1.  
 5%

  1.  
10-15%

  1.  
16-20%

  1.  
> 20%

Scenario 7.
Lead-in
Which babies are particularly likely to have hypoglycaemic convulsions?
Pick one option from the list below.
Conditions.

  1.  
babies that are small-for-dates

  1.  
babies that have had intra-uterine growth retardation

  1.  
babies born to mothers taking heroin

  1.  
babies born to mothers using beta2-agonists for asthma

  1.  
babies born to mothers with diabetes
Option List

  1.  
1 + 2 + 3 + 4 + 5

  1.  
1 + 3 + 4

  1.  
1 + 3 + 5

  1.  
2 + 3 + 4 + 5

  1.  
2 + 4

  1.  
2 + 5

60. SBA. NIPT. Non-invasive prenatal testing.

Question 1.
Lead-in
What is the definition of NIPT?
Option List
A.       
any test to detect fetal anomaly, disease or significant problem that does not involve invasive testing of the mother
B.       
any test to detect fetal anomaly, disease or significant problem that does not involve invasive testing of the mother, excluding TVS
C.       
any test for fetal chromosomal anomaly that does not involve invasive testing of the mother
D.       
any test for fetal chromosome or genetic anomaly that does not involve invasive testing of the mother.
E.        
none of the above

Question 2.
Lead-in
What is the potential of NIPT using cffDNA and RNA?
Option List
A.       
description of the full fetal genome
B.       
description of the full fetal genome with the exception of disorders arising from mitochondrial DNA
C.       
description of the full fetal genome with the exception of disorders arising from mitochondrial RNA
D.       
description of the full fetal genome and most structural anomalies
E.        
none of the above

Question 3.
Lead-in
Which of the following statements is true?
Option List
A.       
cffDNA is found in maternal serum in greater quantities than maternal cell-free DNA
B.       
cffDNA is found in maternal serum in  lesser quantities than maternal cell-free DNA
C.       
the quantity of cffDNA rises throughout pregnancy, peaking at placental separation
D.       
cffDNA diminishes after placental delivery but remains detectable for at least 6 weeks
E.        
cffDNA diminishes after placental delivery but remains detectable for at least 1 year

Question 4.
Lead-in
Which, if any, of the following statements are true?
Statements.
1.        
cffDNA is usually detectable from 4-5 weeks’ gestation
2.        
cffDNA is not usually detectable at gestations < 12 weeks
3.        
the quantity of cffDNA rises throughout pregnancy, peaking at placental separation
4.        
cffDNA diminishes after placental delivery but remains detectable for at least 6 weeks
5.        
cffDNA diminishes after placental delivery but remains detectable for at least 1 year

Option List
A.       
1
B.       
2
C.       
3
D.       
4
E.        
5
F.        
1 + 3
G.       
1 + 4
H.       
1 + 5
I.         
2 + 3
J.         
2 + 4
K.        
2 + 5

Question 5.
Lead-in
Which, if any, of the following statements is true about cffDNA in maternal blood?
Statements.
1.        
cffDNA originates in the placenta, not the fetus
2.        
cffDNA originates in fetal squames
3.        
cffDNA originates in fetal blood cells
4.        
cffDNA occurs in maternal blood due to trans-membrane osmosis
5.        
cffDNA occurs in maternal blood due to feto-maternal transfusion

Option List
A.       
1
B.       
2
C.       
3
D.       
4
E.        
5
F.        
1 + 4
G.       
2 + 4
H.       
2 + 5
I.         
3 + 5

Question 6.
Lead-in
Which. if any, of the following statements are true?
Statements.
1.        
tests using cffDNA are based on detecting paternally-derived fetal DNA in maternal blood.
2.        
tests using cffDNA are based on detecting maternally-derived fetal DNA in maternal blood.
3.        
tests using cffDNA are based on detecting DNA from the fetal Y chromosome.
4.        
tests using cffDNA may involve shotgun sequencing.
5.        
tests using cffDNA may involve shotgun nuptials.

Option List

A.       
1
B.       
2
C.       
3
D.       
4
E.        
5
F.        
1 + 4
G.       
1 + 5
H.       
2 + 4
I.         
2 + 5
J.         
3 + 4
K.        
3 + 5

Question 7.
Lead-in
Which. if any, of the following statements are true?
Option List

A.       
detection of the SRY sequence in cffDNA means that the fetus is female
B.       
detection of the SRY sequence in cffDNA means that the fetus is male
C.       
detection of the SRY sequence in cffDNA means that the fetus is male unless it has a DSD
D.       
detection of the SRY sequence in cffDNA means that the fetus has Klinefelter’s syndrome
E.        
detection of the SRY sequence in cffDNA means that the fetus has 45X0/46XY mosaicism.

Question 8.
Lead-in
Which. if any, of the following statements are true?
Option List
There is none.
A.       
Rhesus D status can be determined accurately from 12 weeks’ gestation using cffDNA
B.       
Rhesus D pseudogene is more common in Africans than Caucasians
C.       
People with the RhD pseudogene are at risk of isoimmumisation.
D.       
People with the RhDu blood type may be identified as Rh-ve or Rh+ve on routing testing
E.        
People with the RhDu blood type are particularly prone to isoimmunisation

Question 9.
Lead-in
Which. if any, of the following statements are true in relation to cffDNA in maternal blood?
Option List
A.       
Checking the fetal RhD status is best left until > 16 weeks’ gestation
B.       
Checking the fetal Kell status is not yet routinely available
C.       
Checking the fetal Kell status is best left until > 20 week’s gestation
D.       
Routine screening of Rh –ve women for fetal RhD status reduces the use of RAADP by up to 10%
E.        
Routine screening of Rh –ve women for fetal RhD status reduces the use of RAADP by up to 40%

Question 10
Lead-in
List the other situations in which cffDNA in maternal serum can be used for clinical benefit.

Other questions.
1.     cffDNA levels in maternal blood are raised in pregnancies affected by Down’s syndrome. T / F
2.     screening for T 21 using cffDNA has both sensitivity and specificity close to 100%. T / F
3.     What is the value of cffDNA in women at risk of having a baby with CAH?
4.     How might cffDNA be used to screen for conditions such as cystic fibrosis?
5.     What is the role of amniocentesis if a cffDNA screen for a condition such as cystic fibrosis proved +ve?
6.     cffDNA screening for achondroplasia and thanatophoric dysplasia is now available on the NHS for women at risk of an affected baby.   True / False
7.     What is meant by “contingent” screening using cffDNA in relation to Down’s syndrome?
8.     What is an “allele”?
9.     What is a “wild-type” allele?

10.   What is the alternative to a “wild-type” allele?
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