SICKLE CELL DISEASE

[Greentop Guideline No. 61 July 2011/ tog april 2013]

Introduction:
SCD is a group of inherited single-gene autosomal recessive disorders caused by the
sickle gene, which affects haemoglobin structure, includes sickle cell anaemia
(HbSS) and the heterozygous conditions of haemoglobin S and other clinically
abnormal haemoglobins i-e haemoglobin C (giving HbSC), beta thalassaemia (giving
HbSB thalassaemia) and haemoglobin D, E or O-Arab. All of these genotypes will
give a similar clinical phenotype of varying severity.
EPIDEMIOLOGY, SCD has its origins in sub-Saharan Africa and the Middle East,
hence it is most prevalent in individuals of African descent as well as in the
Caribbean, Middle East, parts of India and the Mediterranean, and South and Central
America.
Owing to population migration, SCD is now of increasing importance worldwide and
there are increasing numbers of affected individuals in Europe and the USA.
SCD is the most common inherited condition worldwide, About 300 000 children
with SCD are born each year, two-thirds of these births are in Africa.
In the UK, it is estimated that there are 12 00015 000 affected individuals and over
300 infants born with SCD in the UK each year who are diagnosed as part of the
neonatal screening programme. There are approximately 100200 pregnancies in
women with SCD per year in the UK.
PATHOPHYSIOLOGY SCD is a consequence of polymerisation of the abnormal
haemoglobin in low-oxygen conditions, which leads to the formation of rigid and
fragile sickle-shaped red cells. These cells are prone to increased breakdown, which
causes the haemolytic anaemia, and to vaso-occlusion in the small blood vessels,
which causes acute painful crises. Other complications of SCD include stroke,
pulmonary hypertension, renal dysfunction, retinal disease, leg ulcers, cholelithiasis
and avascular necrosis (which commonly affect the femoral head and may
necessitate hip replacement).
SCD was previously associated with a high early mortality rate, but now the majority
of children born with SCD in the UK live to reproductive age and average life
expectancy is at least the mid-50s.
PREPREGNANCY CARE SCD is a chronic, lifelong condition and there are
recommendations for clinical care which apply to all patients, including women
planning to become pregnant.

Women should be reviewed at least annually by a specialist sickle service for the
monitoring and an up-to-date assessment of chronic disease complications and the
imparting of information particularly relevant for women planning to conceive
includes:
" the role of dehydration, cold, hypoxia, overexertion and stress in the frequency of
sickle cell crises " how nausea and vomiting in pregnancy can result in dehydration
and the precipitation of crises " the risk of worsening anaemia, the increased risk of
crises and acute chest syndrome (ACS) and the risk of increased infection
(especially urinary tract infection) during pregnancy " the increased risk of having a
growth-restricted baby, which increases the likelihood of fetal distress, induction of
labour and caesarean section. " the chance of their baby being affected by SCD.
The assessment for chronic disease complications should include: "Screening
for pulmonary hypertension with echocardiography. A tricuspid regurgitant jet
velocity of more than 2.5 m/second is associated with a high risk of pulmonary
hypertension.Screening should be performed if this has not been carried out in the
last year.
" Blood pressure and urinalysis should be performed to identify women with
hypertension and/or proteinuria. Renal and liver function tests should be performed
annually to identify sickle nephropathy and/or deranged hepatic function.
" Retinal screening. Proliferative retinopathy is common in patients with SCD,
especially patients with HbSC, and can lead to loss of vision. women are screened
preconceptually. " Screening for iron overload. In women who have been multiply
transfused in the past or who have a high ferritin level, T2* cardiac magnetic
resonance imaging may be helpful to assess body iron loading.
Aggressive iron chelation before conception is advisable in women who are
significantly iron loaded. " Screening for red cell antibodies. Red cell antibodies may
indicate an increased risk of haemolytic disease of the newborn.
[Tog 2013 _Prior to pregnancy, up-to-date checks should be made of the womans
serology for hepatitis B and C, HIV and rubella, and relevant measures taken,
accordingly. She should be up-to-date with pneumococcal and hepatitis B
immunisations. The woman should be taking folic acid supplements (5 mg) daily,
and appropriate penicillin prophylaxis, given in the context of either previous
splenectomy or functional loss resulting from previous splenic infarctions. Any other
medication should be reviewed in the context of possible teratogenicity, and
stopped or changed to alternatives, as appropriate. Hydroxycarbamide
(hydroxyurea) should be stopped at least 3 months before conception. Angiotensinconverting enzyme inhibitors and angiotensin receptor blockers should be stopped
before conception.

Genetic counselling should be provided as part of the UK national antenatal

haemoglobinopathy screening programme, which was introduced in 2001. Ideally,
the womans carrier status and that of her partner would have been identified as
part of general prepregnancy health advice prior to planning pregnancy. Failing that,
she should have haemoglobinopathy screening at the time of booking for antenatal
care, unless she lives in a low prevalence area (with fewer than 1.5 per 10 000
pregnancies with sickle cell disease fetuses/ babies per year), in which case initial
screening is undertaken by ascertaining her ethnicity, by a standardised family
origin questionnaire, followed by laboratory testing, when relevant.
Currently 1 in 35 pregnant women in the UK are identified by the national screening
programme as carrying a haemoglobinopathy. If her partner also carries a
significant haemoglobinopathy, the expected inheritance pattern is that of an
autosomal recessive condition, and genetic counselling can be given accordingly.
Fetal testing by chorionic villus sampling, amniocentesis and fetal blood sampling
are all possible, with their attendant possible complications, and the possibility of
selective termination of the pregnancy if the fetus is found to be affected ( tog
2013).
In addition, they should receive counselling about the availability of
preimplantation genetic diagnosis and referred for this if appropriate. if their
partners status is unknown, the fetus should be treated as high risk for a
haemoglobinopathy.
Sperm
donors
should
also
be
screened
for
haemoglobinopathies for couples considering in vitro fertilisation.
Table 1 : Conditions requiring counselling when the mother is affected by SCD
CONDITION
HbS Carrier state
thalassaemia
O-Arab
HbC
D-Punjab
DB thalassaemia
Lepore HbE
Hereditary
persistence
hemoglobin (HPFH)

in partner which requires referral for

counselling and offer of prenatal
diagnosis

of

fetal

Carrier state in partner which requires

counselling and may need further
investigation

PREGNANCY/ ANTENATAL CARE: The level of care and attention in pregnancy

and the puerperium should be the same for women with all types of sickle cell
disease (Hb SS, SC, SD or Sb0 thalassaemia). Antenatal care should be provided by
a multidisciplinary team including an obstetrician and midwife with experience of
high-risk antenatal care and a haematologist with an interest in SCD.

The patient should be encouraged to come to hospital promptly whenever she

experiences symptoms suggesting an imminent sickling crisis, as early support may
be able to avert a more severe episode. This would include enhanced hydration,
infection screen and early recourse to antibiotics for any infection, which may have
been the trigger for the crisis. This particularly includes urinary and chest infections,
endometritis in the puerperium, and malaria in those with recent foreign travel.
A careful assessment of her state of oxygenation should be made, with appropriate
support, as relevant. Thromboprophylactic measures should be instituted.
Analgesia should be tailored to the needs of the individual, and is likely to include
the use of morphine, which may be more effectively administered through a patientcontrolled system. Pethidine is generally avoided, because it is less effective, and its
metabolites tend to have longerlasting depressant effects, as well as a tendency to
cause convulsions. The patient should be transferred to an intensive care unit
sooner rather than later, if her condition does not respond satisfactorily.
As a guide, the Hb concentration, haematocrit, platelet count, bilirubin,
transaminase and lactose dehydrogenase levels should be checked every 2 weeks.
Blood pressure checks and urine checks for infection, haematuria and proteinuria
should be made at least every 2 weeks and midstream urine for culture performed
monthly.
Fetal growth should be monitored with measurements by serial ultrasound scans,
Women should be offered a viability scan at 79 weeks of gestation, routine firsttrimester scan (1114 weeks of gestation) and a detailed anomaly scan at 20 weeks
of gestation. In addition, women should be offered serial fetal biometry scans
(growth scans) every 4 weeks from 24 weeks of gestation.
There should be a plan arranged for specific thromboprophylactic measures
appropriate for each individual. These are likely, as a minimum, to include daily
injections of low molecular weight heparin for 6 weeks following delivery.
The timing and mode of delivery is advised according to the relevant details of each
womans If the woman has not been seen preconceptually, she should be offered
partner testing.
If the partner is a carrier, appropriate counselling should be offered as early as
possible in pregnancy ideally by 10 weeks of gestation to allow the option of
first-trimester diagnosis and termination if that is the womans choice
advised to take daily folic acid and prophylactic antibiotics (if not contraindicated).
Drugs that are unsafe in pregnancy should be stopped immediately. Iron
supplementation should be given only if there is laboratory evidence of iron
deficiency.

Women with SCD should be considered for low-dose aspirin 75 mg once daily from
12 weeks of gestation in an effort to reduce the risk of developing pre-eclampsia.
Non-steroidal anti-inflammatory drugs (NSAIDs) should be prescribed only between
12 and 28 weeks of gestation owing to concerns regarding adverse effects on fetal
development.
Routine prophylactic transfusion is not recommended during pregnancy for
women with SCD. If acute exchange transfusion is required for the treatment of a
sickle complication like acute stroke , it may be appropriate to continue the
transfusion regimen for the remainder of the pregnancy.
Blood should be matched for an extended phenotype including full rhesus typing
(C, D and E) as well as Kell typing. Blood used for transfusion in pregnancy should
be cytomegalovirus negative.
Top-up transfusion is indicated for women with acute anaemia. Acute anaemia
may be attributable to transient red cell aplasia, acute splenic sequestration or the
increased haemolysis and volume expansion encountered in SCD.
There is no absolute level at which transfusion should be undertaken and the
decision must be made in conjunction with clinical findings, but haemoglobin under
6 g/dl or a fall of over 2 g/dl from baseline is often used as a guide to transfusion.
Alloimmunisation (the formation of antibodies to red cell antigens) is common in
SCD, occurring in 1836% of patients.
Table . Indications for blood transfusion in pregnancy complicated by SCD
INDICATION
Women with previous serious medical,
obstetric or fetal complications

Women who are on a transfusion regimen

before
pregnancy
for
primary
or
secondary stroke prevention or for the
prevention
of
severe
disease
complications
TWIN PREGNANCY

Acute anaemia
Acute chest syndrome or acute stroke

COMMENTS
Exchange or top-up transfusion may be
indicated
depending
on
clinical
indications and should be decided in the
multidisciplinary clinic setting
Transfusion should be continued during
pregnancy

Prophylactic transfusion should be

considered owing to the high rate of
complications in these women
Top-up transfusion
Exchange transfusion

Acute Painful crisis is the most frequent complication of SCD during pregnancy,
with between 27% and 50% and it is the most frequent cause of hospital admission.
Avoidance of precipitants such as a cold environment, excessive exercise,
dehydration and stress is important.Mild pain may be managed in the community
with rest, oral fluids and paracetamol or weak opioids. NSAIDs should be used only
between 12 and 28 weeks of gestation. Primary care physicians should have a low
threshold for referring women to secondary care; all women with pain which does
not settle with simple analgesia, who are febrile, have atypical pain or chest pain or
symptoms of shortness of breath should be referred to hospital.
Women with SCD who become unwell should have sickle cell crisis excluded as a
matter of urgency And should be looked after by the multidisciplinary team,
involving obstetricians, midwives, haematologists and anaesthetists. The
requirement for fluids and oxygen should be assessed, and fluids and oxygen
administered if required.
Thromboprophylaxis should be given to women admitted to hospital with acute
painful crisis. Initial analgesia should be given within 30 minutes of arriving at
hospital and effective analgesia should be achieved within 1 hour.
The World Health Organization analgesic ladder
paracetamol for mild pain; NSAIDs can be used for
12 and 28 weeks of gestation. Weak opioids such
dihydrocodeine can be used for moderate pain,
morphine can be used for severe pain.

should be used, starting with

mild to moderate pain between
as co-dydramol, co-codamol or
and stronger opiates such as

Assessments of pain score, sedation score and oxygen saturation should be

performed at least 2- hourly using a modified obstetric early warning chart.
Box 1. Outline of management of acute pain
Rapid clinical assessment
If pain is severe and oral analgesia is not effective, give strong opioids (e.g.
morphine)
Give adjuvant non-opioid analgesia: paracetamol, NSAID (if 1228 weeks of
gestation)
Prescribe laxatives, antipruritic and antiemetic if required
Monitor pain, sedation, vital signs, respiratory rate and oxygen saturation every 20
30 minutes until pain is controlled and signs are stable, then monitor every 2 hours
(hourly if receiving parenteral opiates)
Give a rescue doses of analgesia if required
If respiratory rate is less than 10/minute, omit maintenance analgesia; consider
naloxone
Consider reducing analgesia after 23 days and replacing injections with equivalent
dose of oral analgesia
Discharge the woman when pain is controlled and improving without analgesia or on

acceptable doses of oral analgesia

Arrange any necessary home care and outpatient follow-up appointment.
All patients, carers, medical and nursing staff should be aware of the other acute
complications of SCD, including ACS, acute stroke and acute anaemia.
Each hospital should have a protocol in place for the management of ACS in
pregnancy, including the use of transfusion therapy. ACS is the 2 nd most common
complication, reported in 720% of pregnancies. ACS is characterised by respiratory
symptoms such as tachypnoea, chest pain, cough and shortness of breath in the
presence of a new infiltrate on the chest X-ray.
The signs and symptoms of ACS are the same as those of pneumonia, so both
should be treated simultaneously. Acute severe infection with the H1N1 virus in
pregnancy can cause a similar clinical picture, and investigation and treatment for
this should be instituted.
Treatment is with intravenous antibiotics, oxygen and blood transfusion, as in nonpregnant women.Top-up blood transfusion may be required if the haemoglobin is
falling, and certainly if the haemoglobin is less than 6.5 g/dl, but in severe hypoxia,
and if the haemoglobin level is maintained, exchange transfusion will be required.
Acute stroke, both infarctive and haemorrhagic, is associated with SCD and
this diagnosis should be considered in any woman with SCD who presents with
acute neurological impairment. Acute stroke is a medical emergency and a rapidexchange blood transfusion can decrease long-term neurological damage. If a stroke
is suspected, the woman should have urgent brain imaging and the haematologist
should be called for consideration of urgent exchange transfusion. Thrombolysis is
not indicated in acute stroke secondary to SCD. Acute anaemia in women with SCD
may be attributable to erythrovirus infection. Infection with erythrovirus in SCD
causes a red cell maturation arrest and an aplastic crisis characterised by a
reticulocytopenia. Therefore, a reticulocyte count should be requested in any
woman presenting with an acute anaemia and, if low, may indicate infection with
erythrovirus.
Treatment is with blood transfusion and the woman must be isolated. With
erythrovirus infection there is the added risk of vertical transmission to the fetus,
which can result in hydrops fetalis, hence a review by a fetal medicine specialist is
indicated.
INTRAPARTUM CARE: Pregnant women with SCD who have a normally growing
fetus should be offered elective birth through induction of labour, or by elective
caesarean section if indicated, after 38+0 weeks of gestation. SCD should not in
itself be considered a contraindication to attempting vaginal delivery or vaginal
birth after caesarean section.

Blood should be cross-matched for delivery if there are atypical antibodies present
(since this may delay the availability of blood), otherwise a group and save will
suffice. In women who have hip replacements (because of avascular necrosis) it is
important to discuss suitable positions for delivery.
The risks of abruption, pre-eclampsia, peripartum cardiomyopathy and acute sickle
cell crisis are increased and unpredictable. It is the opinion of the developers that,
like most high-risk conditions, delivery of the baby at 3840 weeks of gestation will
prevent late pregnancy complications and associated adverse perinatal events.
Women with SCD should be advised to give birth in hospitals that are able to
manage both the complications of SCD and high-risk pregnancies.
The relevant multidisciplinary team (senior midwife in charge, senior obstetrician,
anaesthetist and haematologist) should be informed as soon as labour is confirmed.
Women should be kept warm and given adequate fluid during labour. Continuous
intrapartum electronic fetal heart rate monitoring is recommended owing to the
increased risk of fetal distress which may necessitate operative delivery.
Arterial blood gas analysis should be performed and oxygen therapy instituted if
oxygen saturation is 94% or less. hourly observations of vital signs should be
performed. A raised temperature (over 37.5C) requires investigation.
The clinician should have a low threshold to commence broadspectrum antibiotics.
Women with SCD should be offered anaesthetic assessment in the third trimester of
pregnancy. Avoid the use of pethidine, but other opiates can be used. Regional
analgesia is recommended for caesarean section.
POST PARTUM CARE In pregnant women where the baby is at high risk of SCD
(i.e. the partner is a carrier or affected), early testing for SCD should be offered.
Capillary samples should be sent to laboratories where there is experience in the
routine analysis of SCD in newborn samples.
This will usually be at a regional centre. Maintain maternal oxygen saturation above
94% and adequate hydration based on fluid balance until discharge.
Low-molecular-weight heparin should be administered while in hospital and 7 days
post-discharge following vaginal delivery or for a period of 6 weeks following
caesarean section.
The same level of care and vigilance should be maintained as has been described
for antenatal care, since acute crisis and other complications of SCD remain a risk in
the puerperium.
Contraception: Progestogen-containing contraceptives such as the progesterone
only pill , injectable contraceptives (Depo-and the levenorgestrel intrauterine

system (Mirena, are safe and effective in SCD. Estrogen-containing contraceptives

should be used as second-line agents.

TABLE 2. Specific antenatal care for women with SCD

Appointment

Care for women with SCD during pregnancy

What should happen

at
the first
appointment?

Offer information, advice and support in relation to optimising

general health

Primary care or

Offer partner testing if not already done; review partner results if

available and discuss PND if appropriate
Take a clinical history to establish extent of SCD and its
complications
Review medications and its complications; if taking
hydroxycarbamide, ACE inhibitors or ARBs, these should be stopped
Women should already be taking 5 mg folic acid and antibiotic
prophylaxis if no contraindication
Discuss vaccinations
Offer retinal and/or renal and/or cardiac assessments if these have
not been performed in the previous year
Document baseline oxygen saturations and blood pressure Send
MSU for C/S.
Confirm viability in view of the increased risk of miscarriage
Discuss information, education and advice about how SCD will affect
pregnancy
Review partner results and discuss PND if appropriate
Baseline renal function test, urine protein/creatinine ratio, liver
function test and ferritin should be performed
Extended red cell phenotype if not previously performed
Confirm that all actions from first visit are complete
Consider low-dose aspirin from 12 weeks of gestation
Routine as per NICE; repeat MSU
Multidisciplinary review (consultant obstetrician and haematologist)

hospital
appointment

79 weeks
What should happen
at the booking
appointment?
See midwife with
experience in highrisk obstetrics if
possible
16 weeks: see
midwife plus
multidisciplinary
review
20 weeks : see
midwife
multidisciplinary
team
24 weeks :
multidisciplinary
team
26 weeks: see
midwife
28 weeks: see
multidisciplinary
team
30 weeks: see
midwife and offer
A/N classes

plus Detailed ultrasound as per NICE antenatal guideline

Repeat MSU
Repeat FBC
Ultrasound monitoring of fetal growth and amniotic fluid volume.
Repeat MSU
Routine check including blood pressure and urinalysis
Ultrasound monitoring of fetal growth and amniotic fluid volume.
Repeat MSU Repeat FBC and group and antibody screen.
Routine check including blood pressure and urinalysis

32 weeks: see
multidisciplinary
team
34 weeks: see
midwife
36 weeks: see
multidisciplinary
team

Routine check Ultrasound monitoring of fetal growth and amniotic

fluid volume Repeat MSU and FBC
Routine check including blood pressure and urinalyis

38 weeks: see mw
and obstetrician

Routine check Ultrasound monitoring of fetal growth and amniotic

fluid volume Offer information and advice about: timing, mode and
management of the birth analgesia and anaesthesia; arrange
anaesthetic assessment care of baby after birth
Routine check Recommend induction of labour or caesarean section
between 38 and 40 weeks of gestation

39 weeks: see
midwife
40 weeks: see
obstetrician

Routine check and recommend delivery by 40 weeks of

gestation
Routine check and offer fetal monitoring if the woman declines
delivery by 40 weeks of gestation

SBA
1) Complications seen with increased frequency during pregnancy in women with
sickle cell trait include all except:
A. chest syndrome.
B. acute pyelonephritis
C. Malaria
D. Acute stroke
E. Acute anaemia
Ans: c
2) Treatment of a patient with an acute sickling crisis requiring admission in hospital
admission in pregnancy should usually include except :
A.low molecular weight heparin injections.
B. blood transfusion.
C. intramuscular injection of pethidine for analgesia.
D. Analgesia should be tailored to the needs of the individual, and is likely to
include the use of morphine, which may be more effectively administered through a
patient-controlled system.
Ans: C _Pethidine is generally avoided, because it is less effective, and its
metabolites tend to have longer-lasting depressant effects, as well as a tendency to
cause convulsions.
Ref tog April 2013

3) following medication should be stopped in a woman with sickle cell disease who
is trying to conceive except:
A.vitamin C
B.hydroxycarbamide.
C. desferrioxamine.
D.ACE ihibitors
Ans c_ ref tog 2013

4) following complications occur with increased frequency in pregnancies in women

with sickle cell disease:
A) severe pre-eclampsia.
B) placental abruption.
C) Peri partum cardiomyopathy
D) Placenta praevia
Ans :D The risks of abruption, pre-eclampsia, peripartum cardiomyopathy and acute
sickle cell crisis are increased and unpredictable in SCD. It is the opinion of the
developers that, like most high-risk conditions, delivery of the baby at 3840
weeks of gestation will prevent late pregnancy complications and associated
adverse perinatal events
Ref: Rcog guideline on SCD

5) With regard to pregnancies in women with sickle cell disease in the UK, following
is true statement,
A. the perinatal mortality rate is about double the overall national rate.
B. the maternal mortality rate is about 220 times higher than the overall national
rate.
C.In the UK, it is estimated that there are 12 000015 0000 affected individuals and
over 30000 infants born with SCD in the UK each year who are diagnosed as part of
the neonatal screening programme.
D.There are approximately 100200 pregnancies in women with SCD per year in
the UK Haemoglobin
Ans D There are approximately 100200 pregnancies in women with SCD per year in
the UK Haemoglobin S combined with normal haemoglobin (A), known as sickle trait
(AS), is asymptomatic, except for a possible increased risk of urinary tract infections
and microscopic haematuria.
Ref tog April 2013 n Rcog guideline on SCD.

6) A 25-year-old pregnant woman with sickle cell disease attends the antenatal
clinic at 8 weeks of gestation. What prenatal testing should be discussed in the first
instance?
A. Amniocentesis
B. Chorionic villus biopsy
C. Fetal sexing at 10 weeks of gestation
D. Noninvasive prenatal testing
E. Partner testing
The correct answer is partner testing. Ideally this will have been ascertained this in
advance. Preconception counselling is very important if the couple are identified as
an 'at risk couple'. This is not just if her partner carries HbS, but also if there are
other conditions detected, e.g. - thalassaemia or HbC.

7) A 25-year-old woman with sickle cell disease is considering having a child with
her partner who has sickle cell trait. What is the probability that the child will have
sickle cell disease?
A. 25%
B. 33%
C. 50%
D. 75%
E. 100%
The correct answer is 50%.
Following screening, this couple is identified as 'at risk'. They need counselling and
advice about their reproductive options, including the methods and risks of prenatal
screening and termination of pregnancy.
See Royal College of Obstetricians and Gynaecologists. Management of sickle cell
disease in pregnancy. Green-top Guideline 61. London: RCOG. 2011.

EMQ's
Management of abdominal pain in pregnancy in SCD women
A.
B.
C.
D.
E.
F.
G.
H.
I.
J.
K.
L.
M.
N.
O.

midstream urine culture and intravenous antibiotic

conservative management
cardiotocogram
appendicectomy
diagnostic laparoscopy
laparotomy
cholecystectomy
oral antibiotics
physiotherapy
stop opioid analgesia
rehydration with intravenous fluids
simple analgesia M laparoscopic removal of cyst/oophorectomy
bladder catheterisation
review in 2 weeks
none of the above

For each description below, choose the single most appropriate answer from the
above list of options. Each option may be used once, more than once, or not at all.
Q.1 A 34-year-old Afro-Caribbean lady is admitted to the delivery suite at 32 weeks
gestation with severe abdominal pain. She is a known sickle cell disease patient.
Ultrasound shows a normally grown fetus with no obvious uterine fibroids. She had
an episode of diarrhoea 3 days ago. Abdominal and vaginal examination are normal.
Ans: K Sickle cell crisis could be precipitated by dehydration and needs aggressive
fluid therapy.
Ref EMQs for the MRCOG Part 2 A self-assessment guide by Hodder arnold

Option list for Questions 23

A.Antibiotics intravenous
B.Anticoagulation full
C.Elective caesarean section
D.Emergency caesarean section
E.Induction of labour
F.Intramuscular opiates
G.Intravenous fluids
H.Intravenous fluids and thromboprophylaxis
I.Intravenous fluids, antibiotics and thromboprophylaxis
J.Lumbar epidural
K.Middle cerebral artery Doppler
L.Steroids
M.Thrombolysis
N.Thromboprophylaxis
O.Transfusion with red cells
P.Umbilical artery Doppler
Q.Transfusion with whole blood
Instructions: For each of the following clinical scenarios, choose the single most
appropriate intervention from the option list above. Each intervention may be
selected once, more than once or not at all.
Q 2) A 23-year-old woman, known to have sickle cell anaemia (HbSS), presents in
her first pregnancy at 34 weeks gestation feeling generally unwell. The fundal
height measures 32 cm. On examination she is found to have a mild temperature
and a blood pressure of 140/65 mmHg. There is nitrites and protein in her urine.
Her haemoglobin is 8.7 g/dL.
Q3)A 27-year-old woman, known to have sickle cell anaemia (HbSC), presents at 34
weeks with nausea and vomiting of 3 days duration. On examination, her
temperature is 36.98C, her pulse is 82 bpm and her blood pressure is 110/65
mmHg. The uterine fundus measures 32 cm, the lie of the fetus is longitudinal and

CTG is normal. The cervix is closed. Urinalysis reveals nitrites , leucocytes ,

proteins . Her haemoglobin is 7.5 g/dL.
Ans:2 . I)The most likely problems in this patient are urinary tract infections and
pseudotoxaemia of pregnancy. Pseudotoxaemia is characterized by systolic
hypertension and proteinuria, and typically occurs in women with sickle cell
anaemia. Bone marrow embolism is the most dreaded complication. Therefore, in
this patient a combination of intravenous fluids, antibiotics and thromboprophylaxis
would be the most suitable treatment option. Once the diagnosis is suspected, the
baby should be delivered.
3) I. The most likely cause of these symptoms is urinary tract infections. The
vomiting and pyrexia will increase the risk of venous thromboembolism. Intravenous
antibiotics and thromboprophylaxis are therefore the best treatment options.
Ref : get through emq book for mrcog part 2

Option list for Questions 14

A 1:1
B.1:2
C.1:3
D.1:4
E.1:5
F.1:10
G.1:20
H.1:25
I.1:50
J.1:75
K.1:100
L.1:150
M.1:200
N.1:250
O.1:500
P.1:750
Q.1:1000
R.1:1500
S.1:2500
T.1:5000
U.1:7500
V.1:10 000
W.1:25 000
X.1:50 000
Y.No risk

Instructions: A couple attend for pre-pregnancy counselling about sickle cell

disease. The genotype of the woman is HbAS and that of the husband HbAC. For
each of the questions raised by the couple below, select from the option list above
the single most appropriate risk estimate that you will give them. Each option may
be selected once, more than once or not at all.
Q4) What is the risk of the couple having a child with sickle HbSC disease?
Q 5) What is the risk of their child being a carrier of the C genotype?
Q6) What is the risk of their child having a normal genotype?
Q7) If their daughter were a carrier and married a man with sickle cell anaemia,
what would be the risk of their grandchild having sickle cell anaemia?
Ans: 4) D. 1:4
5) D. 1:4
6) D. 1:4
7) B. 1:2
Since both potential parents are carriers, the risk of any offspring having sickle cell
HbSC disease will be 1:4. The risk of having a baby who will be a carrier is 1:4 for
both HbAS and HbAC genotypes. The risk of having an unaffected child is 1:4. If
their daughter was a carrier, and she married an affected male, then the risk of this
couple having a grandchild with sickle cell disease will be 1:2.
Ref : get through emq book for mrcog part 2

Option list for Questions 8

A.Amniocentesis for chromosomes
B.Amniocentesis for DNA
C.Amniocentesis for OD 450
D.Chorionic villous sampling for karyotype
E.Chorionic villous sampling for DNA
F.Coelocentesis
G.Cervical flushing
H.Fetal MRI
I.DNA from clean voided specimen
J.DNA from amniocentesis
K.Low risk hence reassurance
L.Fetal blood sample (cordocentesis)
M.Fetal DNA in maternal circulation
N.Fetal cells in maternal circulation
O.Maternal blood for DNA
P.Paternal blood for DNA
Q.Ultrasound scan
Instructions: The patients below presented for antenatal counselling about the risk
of their baby having an inherited disorder. Select from the option list above list the
single most appropriate piece of advice that you would offer the patient. Each
option may be used once, more than once or not at all.
8) A 25-year-old woman, known to have HbAS, attends at 10 weeks gestation for
prenatal counselling about the risk of her baby having sickle cell disease. Her
partner is HbAC.
Ans:8) E. Both parents are carriers of the sickle cell trait. The risk of their baby
having sickle cell HbSC is 1:4. They should, therefore, be offered testing in order to
determine the genotype of the baby. At this early gestation this is commonly
performed through chorionic villous sampling.

Ref : get through emq book for mrcog part 2