SIckle Cell Disease In Pregnancy Flashcards
What gene is responsible for sickle cell disease (SCD)?
The sickle gene (HbS)
SCD is caused by the inheritance of the abnormal haemoglobin sickle gene.
What is the most severe form of SCD?
Homozygous SCD (HbSS)
This form of SCD occurs when an individual inherits two sickle cell genes.
What are some other haemoglobin variants associated with compound heterozygous genotypes of SCD?
- HbC
- HbD Punjab
- HbE
- β thalassaemia
These variants can contribute to the development of SCD when combined with HbS.
How many children are born with sickle cell disease each year globally?
Over 300,000 children
Three-quarters of these births occur in Africa.
Which ethnic communities are predominantly affected by sickle cell disease?
People of African or African–Caribbean origin
The prevalence of SCD varies significantly across different ethnic groups.
Where is sickle cell disease increasingly important due to population migration?
Worldwide, especially in Europe and the United States
The number of affected individuals is rising in these regions.
Which country has the largest population of individuals with sickle cell disease in Europe?
The UK
It is estimated that there are about 15,000 affected individuals in the UK.
How many infants are born with sickle cell disease each year in the UK?
Approximately 300 infants
This statistic highlights the ongoing prevalence of SCD in the UK.
What is the pathophysiology of sickle cell disease?
Polymerisation of abnormal sickle haemoglobin in low oxygen conditions
This leads to the formation of rigid and fragile sickle-shaped red cells.
What clinical features are caused by the blockage of small vessels in sickle cell disease?
- Acute painful crises
- Acute chest syndrome
- Stroke
- Renal dysfunction
- Retinal disease
- Leg ulcers
- Cholelithiasis
- Avascular necrosis
These complications arise due to vaso-occlusion caused by sickle-shaped red cells.
What has improved life expectancy for individuals with sickle cell disease in high-resource countries?
Neonatal screening and lifelong treatment
Life expectancy for these individuals is now at least in the mid-50s.
How many pregnancies occur in women with sickle cell disease each year in the UK?
Approximately 110–200 pregnancies
Management of SCD in pregnancy is increasingly relevant due to improved life expectancy.
What is the increased risk of pregnancy-related VTE in women with SCD compared to the general population?
1.5–5 times greater
VTE stands for venous thromboembolism, which can pose serious health risks during pregnancy.
What complications are women with SCD more likely to experience during pregnancy?
- Require blood transfusion
- Admission to critical care unit
- Deliver before 37 weeks of gestation
- Babies with reduced birth weight
These complications highlight the need for increased monitoring and care during pregnancy.
Which genotype of SCD is associated with more complications during pregnancy?
HbSS
While both HbSS and HbSC experience increased risks, HbSS is linked to more severe outcomes.
What significant increases were confirmed by a systematic review and meta-analysis of studies in pregnancy in SCD?
- Maternal mortality
- Pre-eclampsia
- Stillbirth
- Preterm delivery
- Infants small for gestational age
These outcomes emphasize the critical nature of care for pregnant women with SCD.
What factors were associated with increased relative risks in pregnancy outcomes for women with SCD?
- Genotype (HbSS versus HbSC)
- Low gross national income
Socioeconomic factors can influence health outcomes, including pregnancy complications.
What adverse outcomes can women with HbSC still experience during pregnancy?
- Increased painful crises
- Fetal growth restriction
- Antenatal hospital admission
- Postpartum infection
Women with HbSC require vigilant monitoring similar to those with HbSS.
What should be included in preconception care for women with SCD?
- Discussion of reproductive options
- Partner screening
- Optimisation of health prior to conception
- Preconception folic acid supplementation
- Review of teratogenic medications
Comprehensive preconception care can significantly improve maternal and fetal outcomes.
What is the risk of having a child with a sickling disorder for women with SCD whose partner is a carrier of a beta globin variant?
Up to 50% in each pregnancy
This risk underscores the importance of genetic counseling for couples considering pregnancy.
What reproductive options should women with SCD be counseled about?
- Non-intervention
- Prenatal diagnosis
- Preimplantation genetic diagnosis (PGD)
Counseling should be provided by trained professionals and documented appropriately.
What investigations are particularly important preconceptually?
Assessment of renal dysfunction and cardiopulmonary disease
These assessments are critical for women actively planning pregnancy.
What percentage of individuals with SCD experience renal complications during their lifetimes?
Up to 60%
Renal complications are characterized by glomerular hyper-filtration and microalbuminuria.
What are the indications for blood pressure monitoring prior to pregnancy?
Screening with creatinine and urinary protein
This includes the albumin:creatinine or protein:creatinine ratio.
What protein:creatinine ratio indicates the need for investigation to exclude non-sickle causes?
> 50 mg protein/mmol creatinine
Women with abnormalities in renal function or proteinuria should be further investigated.
What blood pressure reading should prompt consideration of anti-hypertensive treatment?
> 130/80 mm Hg
NICE guidance should be followed for the choice of anti-hypertensive medication.
What cardiac complications are increased in SCD?
Pulmonary hypertension, ventricular diastolic dysfunction, early cardiac death
These conditions are assessed using Doppler echocardiography.
What is a raised tricuspid regurgitant jet velocity (TRV) associated with?
Increased mortality and increased risk of pulmonary hypertension (PH)
A study showed 33% of pregnant women had a raised TRV, but it was not linked to poor outcomes.
When should women planning pregnancy have an echocardiography?
If it has not been performed in the previous year or if they have symptoms suggestive of PH
This is important for evaluating potential cardiac issues.
What chronic complication requires blood pressure, creatinine, and urinary protein monitoring?
Renal disease and hypertension
Regular monitoring is crucial for managing these conditions.
What action should be taken for pulmonary hypertension screening?
Echocardiography if not performed within 1 year or if symptomatic
Abnormalities should be discussed with a cardiologist.
What is recommended for chronic lung disease in women planning pregnancy?
Oxygen saturations monitoring, sleep studies, and pulmonary function tests if indicated
These assessments help manage respiratory health.
What should be reviewed regarding avascular necrosis?
Hip complications which may worsen during pregnancy
This is important for assessing risks during pregnancy.
What should be considered for women with a history of previous stroke during pregnancy?
Role of transfusion
This is particularly relevant if they are not already receiving transfusions.
What is recommended for women on long-term opioids during pregnancy?
Referral to a chronic pain clinic for assessment and management by a pain specialist
This ensures appropriate pain management strategies are in place.
What is the recommended daily dosage of folic acid for women before conception and throughout pregnancy?
5 mg daily
This recommendation is classified as 1A.
What vitamin should all pregnant women be given according to national recommendations?
Vitamin D
This is classified as 1C.
What type of prophylaxis is recommended daily for women during pregnancy?
Antibiotic prophylaxis
This recommendation is classified as 2B.
What vaccinations should be kept updated for women with SCD during pregnancy?
Flu vaccination and other national recommendations
This recommendation is classified as 1B.
What should be done with ARBs when attempting to conceive?
They should be stopped
This recommendation is classified as 1C.
What is the recommendation regarding ACE inhibitors when planning to conceive?
There should be a plan for stopping/converting ACEi
This recommendation is classified as 1C.
What should be done with hydroxycarbamide when attempting to conceive?
It should be discontinued unless at high risk
This recommendation is classified as 2C.
When should iron chelators be stopped?
When attempting to conceive
This recommendation is classified as 1B.
What is the purpose of antenatal haemoglobinopathy screening?
To ensure that screening tests are offered by 8–10 weeks of pregnancy for early prenatal diagnosis.
What should be documented regarding the partner’s status in antenatal care?
Partner status and subsequent counselling should be clearly documented.
When should prenatal diagnosis be offered to pregnant women?
As early as possible in pregnancy, ideally from 11 weeks of gestation.
What is the associated risk of miscarriage with prenatal diagnosis?
Approximately 1%.
Fill in the blank: Women should be offered partner testing if not already done during _______.
the first trimester.
What is the recommended dose of folic acid for pregnant women with SCD?
5 mg.
What are the main components of antenatal care for women with SCD?
- Monitoring for complications
- Prevention of SCD-specific complications
- Multidisciplinary care
How often should routine appointments be scheduled for women with SCD during pregnancy?
Once per month.
What is the target blood pressure for women with SCD during pregnancy?
<130/80 mm Hg.
True or False: Women with SCD should take aspirin prophylaxis to reduce the risk of pre-eclampsia.
True.
What is the recommended timing for the first-trimester ultrasound scan?
10–14 weeks.
What is the recommended frequency for fetal biometry scans for women with SCD?
Every four weeks from 24 weeks of gestation.
What type of blood should be selected for transfusion in women with SCD?
- CMV-negative
- HbS-negative
- Extended Rh- and Kell-matched
What is the primary goal of blood transfusion during pregnancy for women with SCD?
To correct severe anaemia and reduce sickle-related complications.
What should be discussed with the patient regarding blood transfusion during pregnancy?
The risks and benefits of prophylactic transfusion versus standard care.
Fill in the blank: Women with proven iron deficiency should receive _______ during pregnancy.
iron supplementation.
What is the increased risk for women with SCD during pregnancy?
Pregnancy-induced hypertension and pre-eclampsia.
What is the recommendation for women with a history of previous sickle complications in pregnancy?
They may be more likely to benefit from prophylactic transfusion.
What additional complications are associated with multiple gestation in women with SCD?
- Pre-eclampsia
- Hypertension
- Acute pain episodes
- Acute anaemic events
What should be reviewed at each antenatal appointment for women with SCD?
Blood pressure and presence of proteinuria.
What vaccination should be given to pregnant women with SCD?
Flu vaccine.
What should be avoided after 31 weeks of gestation due to risks?
NSAIDs.
What is the purpose of offering information and education at each appointment?
Regarding crisis prevention measures.
What is the recommendation regarding the use of aspirin for women with SCD?
Consider stopping at 36 weeks prior to delivery.
What should be discussed with the patient, haematologist, and obstetrician during early pregnancy?
The need for transfusion during pregnancy
Which genotype is more likely to benefit from transfusion?
HbSS
What phenotype is more likely to benefit from transfusion?
Severe disease phenotype
How does previous obstetric history affect transfusion consideration?
Women with a history of previous sickle complications may be more likely to benefit
What risks are associated with alloimmunisation in pregnant women?
Increased risk of transfusion-related complications
What should women on long-term transfusion therapy do during pregnancy?
Continue on the same frequency
What should women on hydroxycarbamide do prior to conception?
Stop hydroxycarbamide
When should prophylactic transfusion be considered after stopping hydroxycarbamide?
If they experience worsening sickle symptoms or have a very severe pre-hydroxycarbamide phenotype
What is the standard care if the benefits of prophylactic transfusion do not outweigh the risks?
To give transfusion on demand when clinically indicated
What Hb value was used as an indication for simple transfusion in the randomised trial?
<60 g/l
What Hb value do many clinicians aim for during pregnancy?
A higher Hb value than <60 g/l
What severe sickle complications should be treated with transfusion?
Acute chest syndrome, stroke, or intractable pain
Is there evidence about the optimal Hb level or HbS% prior to caesarean delivery?
No
What Hb level was associated with reduced postoperative sickle complications in non-pregnant patients?
> 90 g/l
What should be given to pregnant women with SCD if transfusion is needed?
ABO-compatible, extended Rh- and Kell-matched, CMV-negative units
Is prophylactic transfusion routinely recommended for sickle pregnancy?
No, but should be considered for specific cases
List some conditions where prophylactic transfusion should be considered.
- Previous or current medical, obstetric or fetal problems related to SCD
- Women previously on hydroxycarbamide due to severe disease
- Multiple pregnancy
What should women receiving long-term transfusions for stroke prevention do during pregnancy?
Continue with regular transfusions throughout pregnancy
When may transfusion be required during pregnancy?
In women with worsening anaemia
What acute SCD complications should lead to consideration of transfusion?
- Acute chest syndrome
- Stroke
What is the most common complication of SCD in pregnancy ? What percentage of pregnant women with SCD experience this?
Acute pain episodes, affect 57% of pregnant women with SCD
What percentage of pregnant women with HbSS vs HbSC had severe or extremely severe crises (requiring hospital attendance or admission)?
17.6% of women with HBSS; 9.1% with HbSC
What percentage of postnatal women with HbSS vs HbSC had severe or extremely severe crises (requiring hospital attendance or admission)?
HbSS- 21.6%;
HbSC- 2.3%
What should happen if a women with SCD has pain that does not settle with simple analgesia, who is febrile, has atypical pain or chest pain or symptoms of shortness of breath?
Should be referred to a hospital
How quickly should analgesia be given according to NICE guidelines for the management of acute crises?
Within 30 min of arrival in hospital; the pain should be controlled within 60 min of starting analgesia
Why should pethidine be avoided?
Risk of toxicity and pethidine- associated seizures in patients with SCD
What percentage of pregnant women with SCD are affected with acute chest syndrome?
up to 10%
A pregnant woman with HbSS sickle cell disease presents with fever and/or respiratory symptoms and a new pulmonary infiltrate on chest X-ray- what are these characteristic features of?
Acute chest syndrome
How do you manage acute chest syndrome in the SCD pregnant patient?
Prompt pain relief, incentive spirometry and treatment of bacterial or viral infection. Blood transfusion should be considered early in the hypoxic patient. Involve critical care team if severe features to consider non-invasive or invasive ventilation.
What infection can cause acute anaemia in women with SCD?
parvovirus B19 - erythrovirus infection
** causes red cell maturation arrest and an aplastic crisis -> characterised by a reticulocytopenia**
Pregnant women with SCD with a normally growing baby should be delivered between ______ weeks of gestation.
38-40 weeks– Due to the increased risk of placental insufficiency and pre-eclampsia
It is important for clinicians to remain vigilant postnatally as the risk of sickle cell crisis remains increased with ____% of women having a crisis post delivery and crisis being more common following general anaesthesia
21-25%
The 2019 updated Faculty of Sexual & Reproductive Healthcare (FSRH) guide classifies CHCs as category ___, where the advantages outweigh the theoretical risks
Category 2
