Tutorial 3 August 2023

 Contact me

Website

3 August 2023.

 

13	Role-play. Topic emailed shortly before the tutorial.
14	Structured conversation. Labour ward scenario 2
15	EMQ. Cystic fibrosis
16	EMQ. Fragile X syndrome

 

13.      Role-play.

I’ll send the topic just before the tutorial so that you don’t have time to prepare.

 

14.      Structured conversation. Labour ward scenario 2.

Candidate’s instructions.

Monday. 0900 hours.  You have just come on duty. The registrar on duty overnight has gone off sick and there has not been a proper handover. Your tasks are to prioritise the patients and allocate staff.

1	Mrs A	Para 0+0	25 yrs	41 weeks. In labour 12 hours. Cx 8 cm. No progress for 4 hours. "Dips" reported on CTG
2	Mrs B	Para 1+2	31 yrs	28 weeks. Just admitted. "Show" + contractions
3	Mrs C	Para 5+3	40 yrs	In labour 8 hours. Cx 6 cm. dilated
4	Mrs D	Para 1+3	27 yrs	37 weeks. Diabetes. Admitted ½ hour previously. Previous Caesarean section. Blood sugar high. Refuses insulin.
5	Mrs E	Para 1+2	32 yrs	40 weeks. Previous 9 lb. baby. In the second stage for 1 ½ hours.
6	Miss F	Para 0+0	15 yrs	34 weeks. Concealed pregnancy. In labour. Just admitted. Breech presentation
7	Mrs G	Para 1+2	28 yrs	26 weeks. Admitted with severe abdominal pain
8	Mrs H	Para 2+1	40 yrs	39 weeks. In early labour.
9	Mrs I	Para 1+0	32 yrs	Delivered two hours previously by C section for severe PET. Diastolic BP /110. Urine output 50 ml. since delivery
10	Mrs J	Para 1+0	38 yrs	Normal delivery + PPH >1,500 ml. one hour ago

Medical staff:

Consultant:                in his Consulting Rooms.

You:                             Registrar.

Foundation Year 1    six months’ experience.

Registrar in anaesthetics.

Midwifery staff:

Senior Sister.

Two staff midwives.

One community midwife.

Two student midwives.

 

15.      Cystic fibrosis.

There is no option list to make things you behave in a model fashion – ideally you should think of the answer before you scrutinise 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

 

16.      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.

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 develop 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 FXS have greater risk of depression than 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 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