Tutorial 18th. May 2023

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1	How to prepare. Part 2. What to read. StratOG. TOG CPD. RCOG sample questions. Revision system. Study buddies. Intelligent guessing. Statistics. Urogynae. Other specialist tutorials	18	May	2023
2	EMQ. ARRIVE trial	18	May	2023
3	EMQ. Cystic fibrosis	18	May	2023
4	EMQ. Fragile X syndrome	18	May	2023
5	Part 3. How to introduce yourself	18	May	2023
6	SBA. McCune Albright syndrome	18	May	2023

 

1.           How to prepare. Part 2.

 

2.           EMQ. ARRIVE trial.

Abbreviations.

EBL:    estimated blood loss.

IOL:    induction of labour.

SGA:   small for gestational age.

Question 1.              

What does the acronym ‘ARRIVE’ mean?

Option list.

A	a randomised review of intravenous ergometrine for the prevention of PPH
B	a randomised review of IVF efficacy
C	a retrospective review of IVF efficacy
D	a randomised review of IOL at term versus expectant management of high-risk pregnancy
E	a randomised review of IOL at 39 weeks versus expectant management of high-risk pregnancy
F	a randomised trial of IOL at term versus expectant management of low-risk pregnancy
G	a randomised trial of IOL at 39 weeks versus expectant management of low-risk pregnancy
H	none of the above

Question 2.        What was the primary outcome of the trial?

Option list.

A	C section and instrumental delivery rates versus the spontaneous delivery rate
B	cost-effectiveness of IVF
C	composite outcome of perinatal death or severe neonatal complications
D	estimated blood loss using low-dose ergometrine versus oxytocin for the 3rd. stage
E	frequency and severity of perineal trauma
F	length of labour
G	maternal satisfaction
H	urinary incontinence severity score at 3 months postpartum
I	none of the above

Question 3.        Which, if any, of the following were the important conclusions of the trial?

Option list.

A	C section and instrumental delivery rates were significantly ↓ with IOL at 39/52
B	C section rate but not instrumental delivery rate was significantly ↓with IOL at 39/52
C	instrumental delivery rate but not C section rate was significantly ↓ with IOL at 39/52
D	C section and instrumental delivery rates were significantly ↑ with IOL at 39/52
E	C section rate but not instrumental delivery rate was significantly ↑ with IOL at 39/52
F	instrumental delivery rate but not C section rate was significantly ↑ with IOL at 39/52
G	C section and instrumental delivery rates were unchanged
H	IVF was cost-effective
I	IVF was not cost-effective
J	composite perinatal outcome was better with IOL
K	composite perinatal outcome was unchanged with IOL
L	composite perinatal outcome was worse with IOL
M	EBL using low-dose ergometrine versus oxytocin for the 3rd. stage was ↓↓
N	EBL using low-dose ergometrine versus oxytocin for the 3rd. stage was ↓↓ but with ↑↑ BP
O	frequency and severity of perineal trauma ↑ with IOL
P	length of labour was ↑↑ with IOL
Q	maternal satisfaction was higher with IOL
R	urinary incontinence at 3 months was reduced by IOL
S	none of the above

 

3.           EMQ. Cystic fibrosis.

There is no option list to make you behave in a model fashion – best technique is to decide the correct answer before looking at the option list.

Scenario 1. A woman is 8 weeks pregnant and a carrier of CF. Her husband is Caucasian. What is the risk of the child having CF?

Scenario 2. A healthy woman attends for pre-pregnancy counselling. Her brother has CF. Her husband is Caucasian and has a negative CF screen. What is the risk of them having a child with CF?

Scenario 3. A healthy woman is a carrier of CF. She attends for pre-pregnancy counselling. Her husband has CF. 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 CF. What is her risk of being a carrier?

Scenario 5. A woman attends for pre-pregnancy counselling. Her mother has CF.

What is the risk that she is a carrier?

Scenario 6 . A woman attends for pre-pregnancy counselling. Her mother has CF.

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 carrier of CF. 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 carriers of CF. What is the risk of an affected child?

Scenario 10. A woman and her husband are carriers of CF. What can they do to reduce the risk of having an affected child?

Scenario 11. A woman and her husband are carriers of CF. Can CVS exclude an affected pregnancy?

Scenario 12. A woman has CF, her husband is a carrier. What is their risk of an affected child?

Scenario 13. A woman with CF delivers a 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 CF delivers a 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?

TOG CPD. 2009. 11. 1. Cystic fibrosis and pregnancy

These are open access so are produced here.

Regarding cystic fibrosis,

1.     there are approximately 8000 people living with this disease in the UK.                     True / False

2.     the main cause of death is liver disease.                                                                      True / False

Women with cystic fibrosis

3.     have an approximately 50% reduced fertility.                                                             True / False

4.     have a life expectancy of approximately 50 years.                                                     True / False

With regard to pregnancy in women with cystic fibrosis,

5.     their babies usually have an appropriate birthweight for their gestational age.      True / False

6.     approximately 70% of babies are born prematurely.                                                True / False

7.     the risk of developing gestational diabetes is higher than in the general population.              True / False

8.     the risk of miscarriage is higher than in the general population.                            True / False

9.     the risk of congenital malformations is similar to that in women who are carriers.             True / False

Women with cystic fibrosis who become pregnant,

10.   have a shortened life expectancy compared with women who do not.                    True / False

If a woman with cystic fibrosis becomes pregnant, the risk of the baby being born with cystic fibrosis

11.   is 50% if the father carries one of the common gene mutations for cystic fibrosis.         True / False

12.   is < 1 in 250 if the father does not carry any of the common CF mutations.                              True / False

During pregnancy, a woman with cystic fibrosis

13.   should be cared for by a multidisciplinary team, including a physician and an obstetrician with a special interest in CF in pregnancy.                                                                                         True / False

14.   should have a GTT if she did not have CF-related diabetes prior to pregnancy. True / False

In pregnant women with cystic fibrosis,

15.   the instrumental delivery rate is approximately 40%.                                               True / False

16.   the use of epidural analgesia during delivery is contraindicated.                            True / False

17.   the risk of poor pregnancy outcome increases if the FEV1 is < 70%.                     True / False

Post- delivery in women with cystic fibrosis

18.   breastfeeding is contraindicated because of the high sodium content of breast milk.         True / False

Which of the following statements about cystic fibrosis are correct?

19.   Menarche in girls with CF occurs at the same time as in unaffected girls.                          True / False

20.   Fertility in women with CF is affected to the same extent as it is in men with CF.      True / False

 

4.           EMQ. Fragile X syndrome.

Abbreviations.

AMH:            anti-Müllerian hormone

FXS:               Fragile X syndrome

FXTAS:          Fragile X tremor ataxia syndrome

HFEA:            Human Fertilisation and Embryology Authority

PIGD:            pre-implantation genetic diagnosis.

POF:              premature ovarian failure (now known as POI)

POI:               premature ovarian insufficiency

TR:                 trinucleotide repeat

TTR:               tetranucleotide repeat

Question 1. Which, if any, of the following are features of FXS in males?

Option List

A	autism
B	epilepsy
C	hyper-extensible joints
D	learning difficulty
E	post-pubertal macroorchidism

Question 2. Which, if any, of the following are features of FXS in females?

Option List

A	autism
B	epilepsy
C	hyper-extensible joints
D	learning difficulty
E	post-pubertal ovarian enlargement

Question 3. Why are women thought to be less affected by FXS than men?

Option List

A	two X chromosomes dilute the effect of an affected X chromosome
B	leonisation
C	lionisation
D	lyonisation
E	none of the above

Question 4. How common is FXS in males?

Option List

A	1 in 1,000
B	1 in 4,000
C	1 in 8,000
D	1 in 20,000
E	1 in 100.000

Question 5. How common is FXS in females?

Option List

A	1 in 1,000
B	1 in 4,000
C	1 in 8,000
D	1 in 20,000
E	1 in 100.000

Question 6. Which gene is implicated in the causation of FXS?

Option List

A	fragile X mental retardation 1
B	fragile X mitochondrial recognition 1
C	fragile X 1
D	the gene has not yet been identified
E	none of the above

Question 7. Which is the leading hereditary cause of learning difficulty?

Option List

A	Down’s syndrome
B	fragile X syndrome
C	galactosaemia
D	homocystinuria
E	phenylketonuria

Question 8. Which is the most common genetic cause of autism?

Option List

A	Down’s syndrome
B	fragile X syndrome
C	galactosaemia
D	homocystinuria
E	phenylketonuria

Question 9. Which mode of inheritance occurs with FXS?

Option List

A	autosomal dominant
B	autosomal recessive
C	X-linked dominant
D	X-linked recessive
E	none of the above

Question 10. What is the story about trinucleotide repeats and FXS? What are TRs? Which TRs are

involved with FXS? How are TRs categorised in relation to FXS?

There is no option list – just write your Answers.

FXS is due to repeats of the triplet CGG, cytosine-guanine-guanine.

Gene	Number of repeats	Phenotype
Normal	5 to 44	Normal
Gray zone	45-58	Normal
Premutation	59-199	Normal
Full mutation	≥ 200	FXS

Question 11. What is the FXS premutation? What are its key features?

There is no option list – just write your Answers.

Answer.

Females

Males

POI GHR says 20% have overt POI with menopause by the age of 40, compared with a 1% risk in other women. NORD says 21%. Others have ‘occult’ POI with reduced fertility but normal cycles. A woman with POI has a 2-4% of having the FX premutation – NORD says 2%. If there is a family history of POI, the figure is up to 15%. ~ 90% of POI has no identified cause and the FX premutation carrier status is the most common known cause. The premutation may expand to the full mutation when handed on to a son, giving him full-blown FXS. It is handed on intact to daughters, giving them a 50:50 risk of getting it. The premutation predisposes women to anxiety, depression and social awkwardness.

FXTAS which classically develops from the 60s on. Many men were ‘high flyers’ in their early days. There is some evidence of mental deterioration before the tremor and ataxia are apparent. With tremor and intellectual decline, it has features of Alzheimer’s and Parkinsonism. It is thought that it is underdiagnosed in the elderly with these conditions.

 

Repeat	Condition
GAA	Friedreich ataxia
CGG	Fragile X syndrome
CAG	Huntington disease
CTG	Myotonic dystrophy Type 1
CCTG	Myotonic dystrophy Type 2
CTG	Spinocerebellar ataxia Type B

Question 12. What is the importance of the AGG triplet?

Option List

A	it is the sequence analine-guanine-guanine
B	it normally occurs after every 9 or 10 CGG repeats
C	it promotes stability of the CGG repeats
D	high levels of AGG ­ the risk of expansion of FXS premutation to > 200
E	low levels of AGG ­ the risk of expansion of FXS premutation to > 200
F	it has no importance in relation to FXS.

Question 13. A woman has FXS. What is her approximate risk of POI?

Option List

A	0.1%
B	1.0%
C	5.0%
D	10%
E	20%
F	none of the above

Question 14. A woman is a carrier of the FX pre-mutation. What is her approximate risk of POI?

Use the option list in the previous question.

Question 15. A woman develops POI. What is the chance that she has FXS?

Option List. There is none to make you think.

Question 16. A woman develops POI. What is the chance that she is a carrier of the FXS

premutation?

Option List. There is none to make you think.

Question 17. A woman develops POI. She has a 1^st. degree relative with POI. What is the chance that

she has FXS?

Option List. There is none to make you think.

Question 18. A woman develops POI. She has a 1^st. degree relative with POI. What is the chance that

she is a carrier of the FXS premutation?

Option List. There is none to make you think.

The following TOG questions are open access, so reproduced here.

Fragile X syndrome: an overview Bambang et al. TOG 2011. Volume 13. Issue 2

Fragile X syndrome (FXS).

1.     is the most common cause of learning difficulty.                                                       False / True

2.     is an X-linked dominant disorder.                                                                                

With regard to women with FXS,

3.     the phenotype is worse than in men.                                                                           False / True

4.     if they have the full mutation, they are more likely to have a normal IQ than autistic features.

With regard to the genetics of FXS,

5.     women with 100 trinucleotide repeats are at higher risk of POI than those with 60.         False / True

6.     equal numbers of female & male carriers of the premutation are affected by FXTAS.

                                                                                                                                                      False / True

With regard to POI and FXS,

7.     up to 25% of women with the fragile X premutation develop POI.                         False / True

8.     measurement of levels of AMH is a valid test for assessing risk of POI.                     False / True

9.     women with POI have a 5-10% chance of spontaneous pregnancy.                       False / True

With regard to testing for FXS,

10.   cell-free fetal DNA testing in maternal blood at 11 weeks is available for identifying the fragile X premutation.                                                                                                               False / True

11.   cascade screening involves testing within families of affected individuals.                             False / True

12.   the HFEA allows preimplantation genetic diagnosis of FXS.                                     False / True

With regard to fragile X tremor ataxia syndrome,

13.   Parkinson’s disease is one of the recognised differential diagnoses.                     False / True

With regard to testing for FXS,

14.   PIGD allows distinction between the pre- and full FMR-1mutations.                     False / True

With regard to FXS,

15.   the mother and daughters of a normal transmitting father are obligate carriers.      False / True

16.   women with the syndrome are at a greater risk of developing depression compared with the general population.                                                                                             False / True

17.   where there are larger numbers of repeat trinucleotides, there is an increased tendency for these repeats to expand in the offspring, causing them to have earlier onset or more severe clinical effects.                                                                                                             False / True

18.   it is a recognised cause of macro-orchidism before and after puberty.                     False / True

19.   men with the syndrome are known to have spermatozoa containing the FMR-1mutation.

  False / True

20.   in families of women with FXS, carriers of the premutation are known to have irregular menses and shorter cycles than non-carriers.                                                                        False / True

 

5.           Part 3. How to introduce yourself.

You need to make immediate impact on the examiners and role-players. Decide how you will introduce yourself and use the model you choose in clinics so that it is perfected and routine by the time of the exam.

6.           SBA. McCune Albright syndrome.

Abbreviations.

CPP:      central precocious puberty.

MCA:    McCune Albright syndrome.

PFD:      polyostotic fibrous dysplasia.

PP:         precocious puberty.

Scenario 1.    Which, if any, of the following are components of the classical triad of MCA?

Option List

A	albinism
B	“cafè Cubano” spots
C	“Coast of California” pigmented areas
D	lentigo
E	macroorchidism
F	osteomalacia
G	polyostotic fibrous dysplasia
H	precocious puberty
I	premature menopause
J	primary amenorrhoea

Scenario 2.    Which, if any, of the following are true in relation to MCA?

Option List

A	it is an example of central primary amenorrhoea
B	it is an example of central secondary amenorrhoea
C	it is an example of central precocious puberty
D	it is an example of peripheral primary amenorrhoea
E	it is an example of peripheral secondary amenorrhoea
F	it is an example of peripheral precocious puberty
G	none of the above

Scenario 3.    Which, if any, of the following are believed to be true in relation to the abnormality of

onset of puberty associated with MCA?

Option List

A	it is due to abnormal FSH production
B	it is due to abnormal LH production
C	it may be due to abnormal androgen production
D	it may be due to abnormal oestrogen production
E	it is linked to ovarian cysts with ↑ malignant potential
F	none of the above

Scenario 4.    Which, if any, of the following are true in relation to polyostotic fibrous dysplasia?

Option List

A	polyostotic means resembling parrot bone
B	polyostotic means resembling pigeon bone
C	polyostotic means affecting long bones
D	fibrous dysplasia refers to replacement of marrow by fibrous tissue
E	PFD is a variant of osteomalacia
F	PFD may be unilateral
G	PFD is associated with a 1% risk of malignancy

Scenario 5.    Which, if any, of the following are true in relation to MCA?

Option List

A	hyperthyroidism is common
B	hypothyroidism is common
C	thyroid function is similar to those without MCA

Scenario 6.    Which, if any, of the following are true in relation to MCA?

Option List

A	excess growth hormone production  is common
B	inadequate growth hormone production is common
C	growth hormone production is similar to those without MCA

Scenario 7.    Which, if any, of the following is true in relation to MCA?

Option List

A	inheritance is autosomal dominant
B	inheritance is autosomal recessive
C	inheritance is X-linked dominant
D	inheritance is X-linked recessive
E	inheritance is multifactorial
F	it is not a hereditary disorder
G	it is not genetic
H	none of the above

Scenario 8.    Which, if any, of the following are true in relation to MCA?

Option List

A	renal artery stenosis is more common
B	renal cortex wasting is more common
C	renal phosphate wasting is more common
D	renal waisting is more common
E	none of the above.

Scenario 9.    Approximately what % of children born to women with MCAS will have MCAS?

Option List

A	0
B	1 in 105 - 106
C	1 in 104
D	1 in 100
E	1 in 50
F	1 in 10
G	1 in 2
H	All

 

TOG includes MCAS in CPD Questions for volume 14, number 2, 2012, which are open access, so reproduced here. There are only two questions on MCAS. Note that the second includes CPP.

McCune–Albright syndrome

1. is caused by activating mutations of the GNAS1 gene.                                            True / False

2. is characterised by polyostotic fibrous dysplasia, café-au-lait spots and CPP.      True / False