Sickle cell disease in pregnancy A disease of tremendous

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Sickle cell disease in pregnancy

• A disease of tremendous clinical variability.
• Clinical presentation seldom similar between any
  2 individuals

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Common clinical features

• Chronic haemolytic anaemia
• The occurrence of episodic sometimes catastrophic
  complications
• Typically unpredictable timing

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adults

• People with sickle cell disease do not feel ill
• Participate in regular activities (picture)
• A few achieve high education and professional
  life
• Survival into adulthood still little assurance
  of continued wellbeing

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Overtime

• Chronic haemolytic anaemia
• Micro and macrovascular occlusion leading to
  chronic organ damage
• Joint, Renal,cardiac,chest, cholethiasis
• Retinopathy

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Will I have problem conceiving?

• Fertility of women with sickle cell disease is
  generally unaffected
• Except for the usual reason
• Deferred age
• Poor semen
• Ovulatory disorders
• Tubal disease

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Which contraception should I use?

• No contraception is contra-indicated
• Barrier methods Easily available,safe,low PI
• Progestogen only pill
• Low dose combined oral contraceptivesNot
  contra-indicated
• Depot progestogen
• IUCD Relative contra-indication thus Mirena
  instead

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Pre-pregnancy counselling

• Combined clinic ideal
• Partner testing/PND discussion
• Pattern and frequency of crises
• Previous CVA,infarction,VTE
• Analgesic dependency
• Transfusion history
• Echocardiography

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Prepregnancy counselling

• Immunization status
• Antibiotics prophylaxis
• Renal and hepatic status
• Cardiopulmonary status
• Eye status
• High dose folic acid
• Past Obstetric history
• Individualized care plan

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Pregnancy and hydroxyurea

• Safety remains unclear
• Very large dose in animals shown to be
  teratogenic
• To date no teratogenic effects reported in humans
• Avoid pregnancy,
• If become pregnant on it, stop medication and no
  need to terminate

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Antenatal and neonatal screening Aim

• To reduce infant morbidity and mortality from
  undiagnosed SCD
• Alerting women to the possibility of having
  affected child
• Counseling about the condition
• To offer the option of prenatal diagnosis
• Occasionally picks up new and milder forms

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Neonatal screening Where are we at?

• Newborns-Universal screening by March 2005
• Guthrie test at 5-8
• Fully implemented in London since Sept 2003
• London prevalence of SCD 1750
• Alison
  Streetly(Programme director)

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Antenatal screening Where are we at?

• Two phase roll out
• Full coverage by March
• Universal thalasaemia screening
• Sickle cell high or low prevalence
• Family origin question(Dyson et al,2006)
• Midwives role pivotal in the process
• Aliosn Streetly
  (program director),2006

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Suitability for PGD

• Fertility problems, objection to abortions, or
  history of multiply affected babies
• Family or personal history of Mendelian disorder
  or chromosomal disorders
• PGD License and technique for disorder
• Payment - either personal or local PCT/HA

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Limitations of PGD

• Not suitable for majority of couples
• Stressful, time-consuming, requiring high level
  of commitment
• Only 15-20 of PGD cycles result in babies
• Reduces risk rather than eliminates - roughly 5
  failure rate, due to limitation of single-cell
  analysis

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Non-invasive Fetal Diagnosis

• Isolation of fetal DNA from maternal blood
• small amounts of free fetal DNA present in
  maternal plasma
• technically easy to concentrate and analyse by
  PCR
• limited application - dominant diseases,
  screening for paternal contributions to compound
  heterozygous states
• currently being developed at KCH for HbSC

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Maternal and fetal risk

• Maternal
• Anaemia
• Infection(UTI,Chest,puerperal sepsis)
• Crises
• PET
• Thromboembolism

• Fetal
• Miscarraige
• Intra-uterine growth restriction
• Increased risk of prematurity
• Increased risk of fetal distress

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Antenatal care

• To give appropriate care to ensure healthy mother
  and baby
• Avoidance and early treatment of crises
• Low threshold for admission if unwell
• Screening of partner and offer prenatal diagnosis
  where indicated

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Booking

• Early booking between 6 and 12 weeks is
  recommended
• Early dating scan essential
• Ensure taking folic acid and penicillin
  prophylaxis
• Booking investigations PET bloods

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Antenatal sickle clinic(ASC)

• Once a month Joint clinic with Haematologist,Speci
  alist nurse and high risk midwives
• Once a month review by high risk midwife
• Access to antenatal and haematology day unit 7
  days a week

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ASC clinic

• At 20 week scan uterine artery dopplers performed
• 4 weekly growth scans
• Delivery between 38-40 weeks unless obstetric
  indication otherwise

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Reasons for admission

• Sickle cell crises and pain
• Blood transfusion
• Shortness of breath
• Pre-eclampsia
• Induction of labour
• Infection
• Labour

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Sickle crisesPrecipitating factors

• Infection
• Fever
• Dehydration
• Cold
• Prolonged labour
• operative delivery

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Management

• Keep warm and hydrated
• Maintain strict fluid balance chart
• If initial saturation below 94, give humidified
  Oxygen 4l
• Do blood gases
• Appropriate pain relief
• Infection screen
• Physiotherapy if evidence of chest complication

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Blood transfusion

• Only if clinically indicated
• On going high transfusion regime
• Multiple pregnancy
• Complicated pregnancy
• Recurrent crises

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Umbilical cord blood banking

• UK national cord blood bank currently stores over
  7000 units of cord blood samples
• Donated altruistically for non-directed use
• Under the auspices of National Blood service
• Currently seven other private banks in the UK

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Umbilical cord banking

• Dual public-private approach
• 1 in 10 000 to 1 in 20 000 likelihood for
  personal use
• Used in preference to Bone marrow
• Fewer complications,easier availability,
• higher matching success esp BME.
  Limitationscells from 1 cord insufficient
• Defect already present in the child own cord
  cells
• Shows great promise

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Pitfalls in management

• Haemoglobin SC disease may not run a benign
  course in pregnancy
• Prompt diagnosis of crises saves lives
• Acute chest syndrome may develop from an initial
  uncomplicated crises
• Signs of ACS can be non-specific

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Acute chest syndrome

• Pulmonary crises-infarction/-infection
• Adults are often afebrile
• Lung examination can be normal but progressive
  hypoxia
• CXR Lower lobe involvement

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Management of Acute chest syndrome

• Involve haematologist and anaesthetist early
• Blood should be leucocyte depleted and phenotype
  specific
• Exchange transfusion
• Antibiotics
• Therapeutic clexane
• Oxygen and physiotherapy

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Sudden death in sickle cell disease

• Recognised in SS, SC and AS
• Postmorten evidence
• Intravascular plugs of sickle RBCS
• Extensive fibromascular dysplasia
• Abnormal fibrosis through out conducting system
• Lethal cardiac electrical instability

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Summary

• Sickle cell disease is an inherited disorder of
  varying clinical severity with potentially
  serious complications
• Pregnant woman with sickle cell disease is at
  considerable risk of morbidity and mortality and
  perinatal mortality rates are high

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Summary

• Expert knowledge of the condition, proper crises
  intervention and appropriate management can
  alleviate some of these complications