Sickle cell disease in pregnancy

1. Sickle cell disease in pregnancy A disease of tremendous clinical variability. Clinical presentation seldom similar between any 2 individuals

5. Common clinical features Chronic haemolytic anaemia The occurrence of episodic sometimes catastrophic complications Typically unpredictable timing

6. 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

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

8. 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

9. Which contraception should I use? No contraception is contra-indicated Barrier methods: Easily available,safe,low PI Progestogen only pill Low dose combined oral contraceptives:Not contra-indicated Depot progestogen IUCD: Relative contra-indication thus Mirena instead

10. Pre-pregnancy counselling Combined clinic ideal Partner testing/PND discussion Pattern and frequency of crises Previous CVA,infarction,VTE Analgesic dependency Transfusion history Echocardiography

11. Prepregnancy counselling Immunization status Antibiotics prophylaxis Renal and hepatic status Cardiopulmonary status Eye status High dose folic acid Past Obstetric history Individualized care plan

12. 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

13. 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

14. 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 1:750 Alison Streetly(Programme director)

15. 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

16. 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

17. 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

18. 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

19. 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

20. 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

21. 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

22. Antenatal sickle clinic(ASC) Once a month Joint clinic with Haematologist,Specialist nurse and high risk midwives Once a month review by high risk midwife Access to antenatal and haematology day unit 7 days a week

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

24. Reasons for admission Sickle cell crises and pain Blood transfusion Shortness of breath Pre-eclampsia Induction of labour Infection Labour

25. Sickle crises:Precipitating factors Infection Fever Dehydration Cold Prolonged labour operative delivery

26. 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

27. Blood transfusion Only if clinically indicated On going high transfusion regime Multiple pregnancy Complicated pregnancy Recurrent crises

28. 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

29. 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. Limitations:cells from 1 cord insufficient Defect already present in the child own cord cells Shows great promise

30. 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

31. Acute chest syndrome Pulmonary crises-infarction+/-infection Adults are often afebrile Lung examination can be normal but progressive hypoxia CXR: Lower lobe involvement

32. 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

33. 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

34. 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

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