MRCOG tutorial. 9th. October 2023

 

Contact me

Website

 

66	Role-play.
67	EMQ. Phenylketonuria
68	EMQ. Toxoplasmosis
69	EMQ. Measles

 

66.   Role-play.

Candidate’s instructions will be sent shortly before the tutorial.

 

67.   EMQ. Phenylketonuria.

Topic. Phenylketonuria in pregnancy.

Abbreviations.

IUGR:       intrauterine growth retardation.

PA:           phenylalanine.

PAH:        phenylalanine hydroxylase.

PAHD:     phenylalanine hydroxylase deficiency.

PARD:      phenylalanine-restricted diet.

PKU:         phenylketonuria  .

PPP:         pregnancy prevention programme.

Option list.

A	autosomal dominant
B	autosomal recessive
C	X-linked dominant
D	X-linked recessive
E	1 in 100,000
F	1 in 50,000
G	1 in 10,000
H	1 in 5,000
I	deficiency in phenylalanine hydroxylase
J	deficiency in phenylalanine oxidase
K	deficiency in phenylalanine transferase
L	deficiency in phenylketone hydroxylase
M	deficiency in phenylketone oxidase
N	raised PA levels
O	reduced PA levels
P	raised tyrosine levels
Q	reduced tyrosine levels
R	normal tyrosine levels
S	No
T	Yes
U	unknown

Question 1.        What is PKU? Write your answer – there is no option list.

Question 2.        What is PKU due to? Use the option list.

Question 3.        What levels of PA and Tyr are typical in PKU? Use the option list. This is not a real EMQ

as there are two answers.

Question 4.        Is PKU subdivided into different categories? If “yes”, what are the categories? Write

your answer – there is no option list.

Question 5.        Which, if any, of the following statements are true about hyperphenylalaninaemia?

This is not a true EMQ as more than one answer may be correct.

Option List

A	it blocks growth hormone
B	it destroys astrocyte miosis
C	it disrupts folic acid activity
D	it enhances vitamin A activity
E	it interferes with myelin synthesis
F	it negates the effects of vitamin C
G	nobody knows, nobody cares; especially me

Question 6.        How is PKU inherited? Use the option list.

Question 7.        Which chromosome houses the gene related to PKU transmission?

Question 8.        How many mutations of the gene related to PKU have so far been identified?

Question 9.        Is a person with PKU likely to have one or two mutations of the PKU gene?

Question 10.    What is BH4?

Question 11.    What is pegvaliase?

Question 12.    What is the approximate prevalence of PKU in Caucasians?

Question 13.    What is the approximate prevalence of PKU carrier status in Caucasians?

Question 14.          The prevalence of PKU varies between ethnic groups. Match each of the following ethnic groups to the closest prevalence given in the option list.

Question 15.    Which, if any, of the following are characteristic of PKU?

Option list.

A	alopecia
B	angst
C	facial dysmorphism
D	facial hair in females and pre-pubertal males
E	kyphosis
F	macroorchidism in post-pubertal males

Question 16.    Are fetal PA levels higher or lower than maternal?

Question 17.    Which, if any, of the following  are true in relation to the maternal PKU syndrome?

This is not a true EMQ as there may be more than correct answer.

Option list.

A	asymptomatic bacteruria is more common
B	cholestasis of pregnancy is more common
C	early onset gestational hypertension is more common
D	eczema is more common
E	gallstones are more common
F	miscarriage is more common
G	MPKUS is usually due to non-adherence to a low phenylalanine diet
H	porphyria is more common
I	reversible posterior cerebral syndrome is more common
J	urinary tract urea stones are more common
K	none of the above

Question 18.    What are the main consequences for the offspring of untreated maternal PKU?

Question 19.    Is neonatal screening for PKU routine in the UK?

Question 20.    The test for PKU used to be known by the name of its inventor. Who was he and why

did he have a particular interest? There is no option list and no one is going to ask you except me!

Question 21.     What conditions are covered in the routine neonatal ‘heelprick’ screening test?

Question 22.    Is neonatal screening for PKU still done using the bacterial inhibition method? If not,

what method is used? There is no option list.

Question 23.    What is the main treatment of PKU and what are its problems?

Question 24.    How long should the main treatment of PKU be continued and why?

Question 25.    A woman with PKU is planning her first pregnancy at the age of 22. She has been off

the PKU-restricted diet since the age of 10 and can barely remember being on it. Should she be advised to re-start the diet? If ‘yes’, when should she start and what explanation would you give for the advice?

Question 26.    Which if any of the following statements are true about screening for PKU and its

effects in the neonate born to a woman with PKU ?

Option list.

A	routine bloodspot screening alone is required
B	the neonate should be examined by a paediatrician for signs of PKU
C	the baby should have developmental assessment, even if it does not have PKU
D	an ultrasound scan should be done because of the increased risk of developmental dysplasia of the hip
E	the baby should be started on a low PA diet until all assessments are complete
F	none of the above.

Question 27.    Is breast-feeding advisable for women with PKU?

Question 28.    Are any other therapeutic approaches available? If ‘yes’, what are they and how do

they work? If ‘yes’ use the option list for the mode of action.

Option List

A	it binds PA to circulating plasma proteins, reducing its free levels
B	it increases hepatic metabolism of PAH.
C	it increases renal excretion of PA
D	it is a co-factor for PAH, increasing its efficacy in reducing PA levels
E	it is phenylalanine ammonia lyase, capable of breaking down PA
F	it is a synthetic PAH enzyme
G	it reduces absorption of PA from the small bowel

Question 29.    Is PIGD for PKU available on the NHS? Yes / No?

Question 30.    Which organisation regulates PIGD in the UK?

 

TOG CPD questions. These are open-access, so reproduced here.

Regarding phenylketonuria (PKU):

1.        it is a deficiency of the amino acid phenylalanine (Phe).                       True  False

2.        it is an X-linked recessive inherited metabolic disease.                         True  False

3.        it results in a deficiency in the amino acid tyrosine.                              True  False

4.        it is treated with a low-phenylalanine restricted diet.                           True  False

5.        the incidence is approximately 1:1000.                                                    True  False

6.        the Newborn Screening Programme has been a great success in the diagnosis and management of children with PKU.                                               True  False

7.        neonates with fetal alcohol syndrome and PKU are clinically difficult to distinguish at birth.                                                                                                                             True  False

8.        in utero exposure to very high levels of phenylalanine results in reversible neurological damage to the fetus.                                                                                     True  False

9.        pregnancy outcome is improved substantially when treatment results in low maternal phenylalanine concentrations ideally before conception.                                       True  False

10.      oral methods of contraception should be switched to barrier methods at least 12 months before conception.                                                                               True  False

11.      the risk of congenital heart defects is estimated to be 7–10%.           True  False

12.      it is an indication for early delivery by caesarean section.                    True  False

13.      neonates born to mothers with PKU should be offered screening for PKU as per the routine national screening programme.                                                                  True  False

14.      breastfeeding is contraindicated in women with PKU.                          True  False

With regard to the biochemistry of PKU:

15.      Phe is passively transported across the placenta.                                  True  False

16.      fetal Phe levels are approximately 1.25-2.5 times > than maternal levels.      True  False

Children born to women with PKU:

17.      tend to have blue eyes.                                                                               True  False

18.      are fair skinned.                                                                                            True  False

With regard to the effect of high Phe levels on loss of IQ or behavioural changes:

19.      these changes are reversible in utero.                                                      True  False

20.      they are reversible with resumption of diet deficient of Phe.              True  False

 

68.   EMQ. Toxoplasmosis.

Toxoplasmosis. EMQ. Questions.

Abbreviations.

cTg:             congenital toxoplasmosis.

TgIgG:        Toxoplasmosis immunoglobulin G.

TgIgM:       Toxoplasmosis immunoglobulin M.

Question 1.        Which, if any, of the following are true in relation to the organism causing

toxoplasmosis.

Option list.

A	it is Toxoplasma giardia
B	it is Toxoplasma gondi
C	it is Toxoplasma gondii
D	it is Toxoplasma gondola
E	it is Toxoplasma gung-ho
F	none of the above

Question 2.        Approximately what proportion of the UK pregnant population shows evidence of

previous Tg infection?

Option list.

A	< 10%
B	10%
C	20%
D	30%
E	40%
F	50%
G	> 50%

Question 3.        When is maternal infection believed to be of greatest risk to the fetus?

Option list.

A	peri-conceptually
B	1st. trimester
C	2nd. trimester
D	3rd. trimester
E	during vaginal birth
F	in the puerperium
G	in the puerperium if breastfeeding
H	none of the above

Question 4.        Which, if any,  of the following are true with regard to when tgIgG is detectable after

1ry maternal infection?

Option list.

A	2 weeks
B	4 weeks
C	2 months
D	3 months
E	6 months
F	none of the above

Question 5.        Which, if any,  of the following are true with regard to when TgIgM is detectable after

1ry maternal infection?

Option list.

A	2 weeks
B	4 weeks
C	2 months
D	3 months
E	6 months
F	none of the above

Question 6.        Which, if any,  of the following are true with regard to avidity testing for Tg?

Option list.

A	avidity testing is of little use
B	avidity testing requires expert advice
C	avidity < 30% indicates infection in the previous 3 months
D	avidity < 30% indicates infection in the previous 6 months
E	avidity < 30% indicates infection in the previous 9 months
F	avidity > 40% indicates infection more than 3 months previously
G	avidity > 40% indicates infection more than 6 months previously
H	avidity > 40% indicates infection more than 9 months previously
I	none of the above

Question 7.        Which, if any,  of the following are true with regard to confirmation of fetal infection?

Option list.

A	avidity testing is of little use
B	avidity testing requires expert advice
C	avidity < 30% indicates infection in the previous 3 months
D	avidity < 30% indicates infection in the previous 6 months
E	avidity < 30% indicates infection in the previous 9 months
F	avidity > 40% indicates infection more than 3 months previously
G	avidity > 40% indicates infection more than 6 months previously
H	avidity > 40% indicates infection more than 9 months previously
I	none of the above

Question 8.        Which, if any, of the following are true in relation to the NSC’s decision on routine

toxoplasmosis screening in pregnancy in 2016?

Option list.

A	screening should be introduced as soon as practicable
B	testing would produce a falsely-high prevalence of Tg in pregnancy
C	the prevalence of Tg is too low for screening to be cost-effective
D	the prevalence of Tg is high enough  for screening to be cost-effective
E	the prevalence of Tg is unknown
F	there is no treatment in pregnancy of proven benefit to mother or baby
G	they would leave the decision until after lunch, but drank too much wine and did not return
H	maybe some of the above, please tick the boxes for me
I	none of the above

Question 9.             Which, if any, of the following are complications of intrauterine Tg infection for the fetus and newborn.

Option list.

A	miscarriage
B	IUGR
C	stillbirth
D	chorioretinitis
E	hepato-splenomegaly
F	holoprosencephaly
G	hydrocephalus
H	intracranial calcification
I	microcephaly
J	neural tube defect

Question 10.    Approximately how common in vertical transmission of Tg in the 1^st. trimester?

Option list.

A	< 10%
B	10-20%
C	25%
D	50%
E	> 50%

Question 11.    Approximately how common in vertical transmission of Tg in the 2^nd. trimester? Use

the option list for question 4.

Option list.

A	< 10%
B	10-20%
C	25%
D	50%
E	> 50%

Question 12.         Approximately how common in vertical transmission of Tg in the 3^rd. trimester? Use the option list for question 4.

Option list.

A	< 10%
B	10-20%
C	25%
D	50%
E	> 50%

Question 13.         Which of the following are true in relation to reducing the risk of vertical transmission of Tg?

Option list.

A	the SYROCOT trial showed strong evidence of the efficacy of spiramycin
B	a Cochrane trial has suggested that pyrimethamine + sulfadiazine give better results than spiromycin
C	there is evidence that metronidazole is the most effective drug
D	there is a lack of clear evidence about effective therapies
E	spiromycin crosses the placenta, so is effective in reducing MTBT and treating the infected fetus
E	this is too esoteric for my poor pummelled brain

Question 14.         Which, if any, of the following are features of the classical triad associated with congenital Tg?

Option list.

A	chorioretinitis
B	deafness
C	hepatosplenomegaly
D	hydrocephalus
E	intracranial calcifications
F	low birthweight
G	jaundice
H	leukopenia

Question 15.    Which of the following are used in the treatment of cTg?

Option list.

A	metronidazole
B	pyrimethamine
C	steroids
D	sulfadiazine
E	none of the above.

 

69.   EMQ. Measles in pregnancy

Abbreviations.

MMR:         measles, mumps & rubella.

Scenario 1.                

Which, if any, of the following are notifiable in the UK? This is not a true EMQ as there may be more than one correct answer.

Option list.

A	chickenpox
B	malaria
C	measles
D	mumps
E	parvovirus
F	pertussis
G	plague
H	polio
I	rubella
J	scarlet fever
K	smallpox
L	varicella

Scenario 2.                

Which, if any, of the following statements are true in relation to the approximate level of immunity necessary in the community to provide effective herd immunity?

Option list.

A	50%
B	60%
C	70%
D	80%
E	90%
F	>90%
G	none of the above

Scenario 3.                

Which, if any, of the following statements is true in relation to the routine measles vaccination schedule in the UK?

Option list.

A	Measles vaccine should be given at 3 months with boosters at 12 months and 3 years
B	Measles vaccine should be given at 3 months with boosters at 12 months and 5 years
C	Measles vaccine should be given at 6 months with boosters at 12 months and 5 years
D	Measles vaccine should be given at 6 months with boosters at 12 months and 5 years
E	Measles vaccine should be given at 12 months with a booster at 3 years + 4 months
F	Measles vaccine should be given at 12 months with boosters at 2 and 5 years
G	MMR vaccine should be given at 3 months with boosters at 12 months and 3 years
H	MMR vaccine should be given at 3 months with boosters at 12 months and 5 years
I	MMR vaccine should be given at 6 months with boosters at 12 months and 5 years
J	MMR vaccine should be given at 6 months with boosters at 12 months and 5 years
K	MMR vaccine should be given at 12 months with a booster at 3 years + 4 months
L	MMR vaccine should be given at 12 months with boosters at 2 and 5 years
M	none of the above

Scenario 4.                

How effective is MMR vaccine at preventing measles?

Option list.

A	20%
B	3%
C	40%
D	50%
E	60%
F	70%
G	80%
H	90%
I	>90%
J	none of the above

Scenario 5.                

What is the main reservoir of the measles virus?

Option list.

A	cats
B	dogs
C	earthworms
D	house mites
E	Musca domestica
F	none of the above

Scenario 6.                

What is the approximate incubation period of measles?

Option list.

A	5± 4 days
B	7± 4 days
C	10 ± 4 days
D	10± 7 days
E	14 ± 4 days
F	14 ± 7 days

Scenario 7.                

When does the typical rash appear?

Option list.

A	before the development of other symptoms
B	at the same time as the development of other symptoms
C	1-2 days after the development of other symptoms
D	2-4 days after the development of other symptoms
E	none of the above

Scenario 8.                

Which, if any, of the following are characteristic of the measles rash? This is not a true EMQ as there may be more than one answer.

Option list.

A	it is usually the first evidence of the infection
B	it starts centrally and spreads to the periphery
C	it starts peripherally and spreads to the centre
D	it is erythematous
E	it is maculo-papular
F	it is vesicular
G	secondary infection of the lesions is common and leads to scarring

Scenario 9.                

How long is the period of infectivity?

A	from 4 days before the first symptoms to 4 days after the rash appears
B	from 4 days before the first symptoms to 7 days after the rash appears
C	from 7 days before the first symptoms to 4 days after the rash appears
D	from 7 days before the first symptoms to 7 days after the rash appears
E	from the onset of the first symptoms to 4 days after the rash appears
F	from the onset of the first symptoms to 7 days after the rash appears
G	none of the above

Scenario 10.            

Which, if any, of the following statements are true in relation to Koplick’s spots? This is not a true EMQ as there may be more than one answer.

Option list.

A	the spelling is ‘Coplick’
B	the spelling is ‘Coplik’
C	the spelling is ‘Koplick’
D	the spelling is ‘Koplik’
E	they are small white spots with blue centres
F	they are small white spots with  red centres
G	they are small white spots with  blue centres
H	they are small red spots with  blue-green centres
I	they are small red spots with  white centres
J	they are small red spots with  blue-white centres

Scenario 11.            

Which, if any, of the following statements is true about the spots mentioned in the previous question? This is not a true EMQ as there may be more than one answer; this is me being lazy and compressing three EMQs into one.

Option list.

A	they appear 1-2 days before the rash
B	they appear with the rash
C	they appear 1-2 days after the rash
D	they last for 3-4 days
E	they last for ~ 7 days
F	they occur in the mouth
G	they occur in the peri-anal area

Scenario 12.            

Which of the following groups is most at risk of serious morbidity from measles?

Option list.

A	infants < 3 months
B	infants < 12 months
C	infants who are not breastfed
D	infants with eczema
E	adolescents
F	pregnant women
G	the elderly

Scenario 13.            

Which, if any, of the following are complications of measles in the 1^st. trimester? This is not a true EMQ as there may be more than one answer.

Option list.

A	amblyopia
B	dermatographia
C	miscarriage
D	neural tube defect
E	optic atrophy
F	none of the above

Scenario 14.            

Which, if any, of the following are more common for the non-immune, pregnant woman who develops measles in pregnancy? This is not a true EMQ as there may be more than one answer.

Option list.

A	admission to hospital
B	admission to a passion for fried chicken
C	admission to a psychiatric ward
D	appendicitis
E	meningitis
F	pneumonia
G	none of the above