The smart way to learn. The smart way to teach.

MRCOG PART 2 SBAs and EMQs

Course PAID
notes336
EMQ1502
SBA2115
Do you realy want to delete this discussion?
Forum >>

ESSAY 231 - SICKLE CELL DISEASE

Posted by Srivas  P.
a) It is an autosomal recessive disorder caused by mutation in gene associated with beta2 protein chain, forming HbS instead of the normal HbA. Her red cells are prone to sickle and breakdown under conditions of hypoxia, dehydration, cold, stress and exercise, causing block of microcirculation leading to painful crisis and sometimes organ damage. Splenic damage may make her prone to bacterial infection.

If she has fever, urinary complaints , acute pain in abdomen or chest she should report to her doctor as acute sickle cell crisis can be life threatening. Her risks of crisis are increased in pregnancy and include anemia, risks of chest and urinary tract infections, puerperal sepsis, hypertensive disorders of pregnancy, bone marrow embolism and thrombo-embolic complications.

Fetal risks include risk of miscarriage, prematurity, IUGR and risk of being either a carrier of sickle cell trait or have the disease depending on partner status. Since this woman has homozygous pair of defective gene all her children will be carriers of the disease even if her partner is normal. Usually Sickle cell trait has a benign course with normal longevity with proper care but develop crisis rarely under conditions of extreme stress. Her partner should be screened for gene mutation because if he is a carrier there is 50% chance of her children having SCD while 50% will have sickle cell trait. This would necessitate prenatal diagnosis to detect fetal status. Prenatal tests should be offered to her after ascertaining her views on termination of pregnancy. I will explain to her about 2% and 1% risk of miscarriage above background with chorionic villus sampling and amniocentesis respectively. Latter is done in 2nd trimester and would need later and more complicated termination of pregnancy if she chooses that. I will give information booklets.

b)For optimum results she should be managed in tertiary care centre with multidisciplinary care involving obstetrician, hematologist, neonatologist and senior anesthetist.

It is a high risk pregnancy and sickle cell crisis can be life threatening?hence protocols and drills must be in place to deal with it.

She would need increased folic acid supplementation, 5mg per day throughout pregnancy due to increased hemopoiesis. Usually she does not need iron supplementation but it may be given if serum ferritin levels are low and she has iron deficiency anemia. If she is on drugs like hydroxyurea given to increase HbF, it should be stopped as there is insufficient data about its safety in pregnancy.

Factors that can precipitate a crisis should be avoided?this includes dehydration in early pregnancy due to excess vomiting, chest infections and urinary tract infections. A monthly urine microscopy and culture should be done to detect asymptomatic bacteruria which should be treated. Use of prophylactic antibiotic like penicillin V should continue throughout pregnancy to prevent infections by encapsulated organisms. She should receive pneumococcal vaccine and hepatitis B vaccine if she is negative for Hepatitis B antibodies. She should be encouraged to avoid exercise, cold atmosphere and stress. She should report immediately if there is fever or any evidence of sepsis.

Her blood group and red cell antibody screening should be done as she is likely to have minor antibodies which interfere with cross matching. Matched blood should be always kept ready.

Role for prophylactic exchange transfusions to raise HbA level to 60-70% is controversial. But should be considered if she has multiple gestation or she has repeated painful crisis. Any acute crisis should be dealt with immediately with Intra nasal oxygen, narcotics, hydration, infection control and fresh warm blood transfusions.

She should be assessed for risk for thromboprophylaxis early in pregnancy and her assessment should be an on going process if she develops any complication which may change her risk status and it should be given if she is immobilised due to sickle crisis. Routine thrombo prophylaxis is not necessary.

Baby needs close monitoring as she is prone to have IUGR. An early dating scan and a regular USG monitoring for fetal growth and Doppler should be instituted from 24-28 weeks.

In the absence of any complication spontaneous labor can be awaited. Vag delivery should be anticipated and C.S is done for obstetric indication only.
Posted by neera  B.
a) I will reassure her that in most pregnancies with sickle cell disease there are no complications. However, there is higher chance of sickle cell crisis during pregnancy than in nonpregnant. One third women develop sickle cell crisis of which 1- 2 % die. There is increased chance of anemia , so folic acid supplements will be given throughout pregnancy. Infections like urinary tract infections are more common , so regular antenatal care or oral penicillin prophylaxis will be offered . She has higher risk of pre eclampsia , so regular BP checks are important . Risk assessment for thromboembolism will be done as sickle cell disease is a risk factor and thromboprophylaxis may be offered with injectible heparin.
Sickle cell is autosomal recessive disease , so, if partner is normal , fetus can at best be having sickle cell trait. Such babies have normal or near normal hemoglobin. But if partner carries sickle cell trait or thallesemia trait , child may carrier for both sickle cell and thalassemia causing severe hemolytic anemia. There is higher risk of miscarriage, fetal growth restriction , low birth weight , intrauterine death and still birth . So, dating scan must be done and followed by 2 wkly growth scans from 24 wks . There is chance of needing preterm delivery. Written information will be provided.
b) The first principle is to involve multidisciplinary team involving consultant obstetrician, hematologist, anaesthetist, neonatologist, her GP and senior midwife. Another principle is patient education , with regard to avoiding cold exposure , drinking lots of fluids , avoid infection and travel to high altitudes as these can prcipitate crisis , education to emphasise compliance with regular antenatal care and to contact hospital at earliest symptom of infection.
Another principle is monitoring . Maternal monitoring involves regular BP check, tests for hemoglobin and MSU. Fetal monitoring by baseline dating scan followed by 2 wkly growth scans from 24 wks . Preventing maternal complications is important principle . So, oral penicillin V prophylaxis is offered against infections , oral folic acid 4 mg/d is given throughout pregnancy for anemia , thromboprophylaxis may be considered.
Prompt treatment of maternal complications is importaqnt. So, sickle cell crisis should be promptly managed with oxygen , rehydration , warmth, opiate analgesia and exchange transfusion.
Support groups, 24 hr helpline numbers should be offered .
Labour is high risk time for crisis , so principle is to have hospital confinement in consultant led unit with adequate facilities and in liaison with hematologist. Hypoxia , dehydration , exposure to cold are avoided, antibiotic and thromboprophylaxis considered.
Very important principle is patient involvement in decision making with informrd consent.
Vaginal delivery is permissible. Cesarian is for obstetric reasons.
Posted by NIRMALA SARASWA P.
SIcke cell disease is an autosomal recessive disorder where there is a defect in the b globin chain synthesis of hemoglobin,as a result of which,the red cells are prone for sickling when exposed to conditions,like low oxygen tension,dehydration,infection etc.,The condition in pregnancy lead to 2 fold increase in maternal mortality and 4-6fold increase in perinatal mortality and morbidity.So,the condition in pregnancy needs intense antenatal and fetal surveillance,and multidisciplinary management which include,senior obstetric consultant,senior physician,midwife,general physician,hematologist,anesthetist.
Effect of sickle cell disease to the mother include,sickle cell crises,megaloblastic anemia unresponsive to folic acid, infections,preeclampsia ,bone necrosis,venous thrombo embolism.
Since the condition is familial,the risk to the fetus,depends on the carrier state of her partner.Therefore also she may be referred for genetic counselling to know the inherent risks to her fetus.If the fetus is at risk of inheriting the disease the couple may be counselled for termination of pregnancy.Prenatal diagnoses in the form of chorionic villous sampling may be offered,to know the risk to her baby.The miscarriage rate associated with the procedure is 0.5-1%.The effect of the sickle cell disease on the fetus,include,risk of spontaneous miscarriage,pretermlabour,Intrauterine growth restriction.
During her visit,I will explain the sickle cell disease and its implications to the mother,assess the risk factors of thromboembolism by appropriate history,that include, family history if any of her family members,are affected to exclude inherent thrombophilia,and assess the need for either antenatal or postnatal thromboprophylaxis.BMI,BP,are noted,any signs of anemia are excluded,routine investigation for full blood count,midstream urine to exclude anemia and infection and if infection noted appropriate antibiotics,since infection may precipitate sickling crises.Also proteinuria,excluded in the urine analyses.Splenectomy is contraindicated during pregnancy or if the mother already had a splenectomy to ensure if she is on prophyllactic penicillin v therapy against encapsulated bacteria.
Also blood transfusion may be considered every 6 weeks, to maintain HbA >50-60%. Since the fetus is at risk of Intrauterine growth restriction intense fetal surveillance in the form of growth scans from 24 weeks onwards biweekly,umbilical dopplers,can help in identification of affected fetuses early and early intervention.General advise to the patient as to avoid travelling to high altitudes,avoid dehydration and stress.All the information can be reinforced by information leaflets.
Labour and delivery,since they are stressful conditions,mother is at high risk of sickling crises.Consulted led care with one to one midwifery support,adequate analgesia,in the form of epidural,good hydration,oxygenation,can lead to improved outcomeI will ensure that,the bloods are cross matched and available,iv access,continuous fetal monitoring.vaginal delivery is indicated and caesarean for obstetric reasons.Neonatologist to attend the baby.If caesarean delivery is necessary,prophylactic antibiotics,TED stockings are helpful to reduce the operative morbity.Post partum early mobilization,hydration are advised.Breast feeding.
contraception,OCP are prescribed after 21 days,If IUCD,is prescribed women is advised,about the risk of infection and also bleeding associated with IUCD.Suitable contraceptive after appropriate counselling.
Posted by Farzana N.
a)Systemic lupus erythematosis (SLE)is an autoimmune disease associated with multi organ involvement. It predominantly affects women in their child-bearing years.
Pregnancy associated maternal risks depend upon the remission period before pregnancy and also preexisting complications such as lupus nephritis and APS.
Most important complication is lupus flare or exacerbation during pregnancy. These may be severe if the disease has been active within six months before pregnancy. Symptoms of alopecia, palmar erythema, fatigue and facial erythema which are indicators of active disease can be masked as normal features of pregnancy.Risk is highest in the first trimester and postpartum.
Preexisting lupus nephritis may put the woman at higher risk of worsening renal functions .PIH and pre eclampsia during pregnancy, depending upon the severity of preexisting renal failure. If aPL are positive there is a high risk of fetal loss,oligohydramnios ,VTE ,pre-eclamsia and HELLP syndrome.
Fetal risks- include higher incidence of pregnancy loss, IUGR, preterm delivery with increased perinatal morbidity and mortality. In case the woman has positive anti Ro and anti La antibodies, the fetus is at risk of Neonatal lupus .The most serious complication. congenital heart block may occur in 2% of fetuses of mothers who anti Ro antibodies.Half of the surviving children may require pacing in the first year of life.
b)Antenatal care is ideally provided by multidisciplinary team including obstetrician,midwife,ultrasonographer,hematologist and renal physician.BP is checked.Investigations at booking include dating scan,FBC,urine for proteins and microscopy forRBCs and casts.Freuency of antenatal visits would be monthly upto 28wks,2weekly upto 36wks and weekly thereafter.At each visit signs and symptoms of flare,PIH and IUGR are looked for.If there is renal involvement 24hrs urine collected for creatinine and total protein.Thromboprophylaxis may be required if she has aPL or APS
Drugs that can be given safely include glucocorticosteroids and antimalarials hydroxychloroquine .Azathioprine as second line.Cyclophosphomide and methotrexate as third line.NSAIDs should be avoided in last trimester as the risk of oligohydramnios and premature closure of ductus arteriosus .Low dose Aspirin may be given if aPL positive,as thromboprophylaxis.
Serial growth scans should be done .Uterine artery Doppler scans performed at 20 and 24wks help predict women at highest risk of IUGR who would require close surveillance.If the fetus is small,even with normal uterine dopplers identification of fetal cerebral blood flow redistribution may help to predict fetus at risk. Recording of fetal movements and biweekly CTG provide continued surveillance.If any fetal comopromise is noted , woman should be delivered.


Posted by Farzana N.
sorry !I read the question wrong!excuse
Posted by Farzana N.
a)Sickle cell disease occurs as a result of point mutation in beta globin gene replacing valine with glutamic acid.This results in intravascular sickling precipitated by hypoxia ,dehydration ,infection and acidosis, causing chronic hemolytic anemia. Increased blood viscosity and hypoxia occur as sickled cells occlude micro circulation, causing vaso-occlusive crises-organ failure,pulmonary embolism and hematuria.,Anemic crises ,chest syndrome and neurologic events.
Pregnancy is associated with exacerbation of these complications. Maternal risks include increased crises-vaso occlusive and anemic, increased susceptibility to infections-chest and urinary tract,and puerperal sepsis.Increased risk of pre-eclampsia 14%.Eclampsia may occur in~1%.Inreased risk of thromboembolism and bone marrow embolism.
Fetal risks include higher incidence of miscarriage,IUGR and small for gestational age and preterm delivery.consequently perinatal mortality is increased 6times.Fetus may also be at risk of stillbirth.
b)Woman should be regarded as high risk case and ideally managed in tertiary center in cosultation with sickle cell/ hemoglobinopathy center and hematologist.A detailed medical history should be taken with particular reference to prvious crises and their management.Dating scan should be done.Regular hematological,biochemical and microbiological assessments to identify and treat complications early including-FBC and reticulocyte count,se iron and ferritin,B12 and red cell folate.U&E,LFTs and
RFTs.Blood is grouped and red cell antibody screen done,Screening for Hep B&C,HIV ,syphilis.MSU for culture and sensitivity.
Role of prophylactic transfusion is controversial,but can be given if twin pregnancy. Situations precipitating hypoxia, acidosis and dehydration should be avoided. Prophylactic penicillin should be continued. Use of tourniquets should be avoided.Any crises should be promptly treated by adequate hydration,O2 therapy and treating infection.
She should have two weekly antenatal visits. Growth scans should be done for early detection of IUGR.In suspected cases BPS with liquor volume and dopplers should be done.In the absense of an ostetric indication spontaneous labor at term is awaited.












.


Posted by Misbah W.

A] Sickle ?cell disease includes a group of inherited disorder characterized by a defect[s] in HB structure which predominately present with vaso-occlusive symptoms and complications of haemolysis .Sickle cell disease [SCD] is associated with increase in maternal mortality and morbidity. Maternal mortality rate is 1-2%. The major risk to her health in pregnancy is in frequency of vaso-occlusive attacks leading to pain ful episode, stroke, acute chest syndrome and acute splenic sequestration .Hospital admission are required to control such attacks. This will also increase her tendency towards thromboembolic incidents .Marked aneamia may need blood transfusion and morbidity associated with it like transfusion reaction, atypical antibodies and viral infection [hepatitis B,C]. She will be more expose to infection like-chest, pylonephritis and puerperal sepsis. Severe pre-eclampsia is more associated with SCD. Perinatal mortality and morbidity is also increased in SCD due to increased miscarriage rate, IUGR and prematurity. Genetic councelling is required to explain the risk of inheritance in fetus.This should be supported by written information and address of support group.


B] Antenatal management should entail a joint approach between obstetrician, physician, hematologist and neonatologist. The main aim of management plan should be focused on reducing frequency and prompt treatment of vaso occlusive episodes. The use of prophylactic blood transfusion programme or exchange transfusion to dilute defected HB concentration, is controversial. A complete assessment of patient should be done on initial visit with specific reference to complications like retinopathy and leg ulcer Dehydration due to hyperemesis in early pregnancy should be treated promptly to avoid sickle cell crisis. Blood group antibody screening and base line renal and hepatic function test should be done on booking and in second and third trimester. .Folic acid prophylaxis should be administered. Regular urine analysis should be performed due to high incident of pylonephritis and renal sickling. She should be educated to report in case of painful crisis, acute chest pain and bone pains. Acute crisis should be treated with oxygen, antibiotics, hydration and narcotic pain relief. Blood transfusions are used in symptomatic anaemia or other complication like acute splenic sequestration. Regular and frequent blood pressure recording should be obtained for early diagnosis and treatment of pre-eclampsia. Serial fetal growth scan and Doppler studies are recommended to monitor growth velocity. Patient should be warned about sign and symptoms of preterm labour. Prolong hospital admission should be assessed for thromboprphylactic measurement with deterrent stocking and LMW heparin if required.
Labour can be induced if required with PG or oxytoin.Epidural can be used and all measure should be taken to avoid dehydration. Caesarean is indicated for obstetric reasons. She should be provided with written information and 24 hours help-line services.
Posted by TAIWO NURENI Y.
a)I will tell her that there is increase risk of crisis in pregnancy and that 35% of pregnancies in sicklers are complicated with crisis.The crisis are often precipitated by infection,dehydration ,
hypoxia and acidosis.
She is at risk of recurrent urinary tract infection,pneumonia and puerperial sepsis.Acute chest syndrome could also arise from infection and this would require agressive management.It presents with fever ,tachpnoea,pleuritic and chestpain.She is also prone to early onset preeclampsia that progresses quickly with risk of eclampsia and its associated morbidity and mortality.Due to hyperviscosity of blood from sickling she is liable to venous thromboembolism,pulmonary embolism and renal infarction.She is in a chronic state of anaemia which may worsen in pregnancy and may nececcesitate blood transfusion with its attendant risk of early or late reaction or potential risk of yet unknown infections.She could also suffer from retinopathy.She may end up having ceasarian section because of increase icidence of fetal distress in labor.
The fetus is at risk of miscarriage,intrauterine growth retardation and prematurity either spontaneous or iatrogenic.There is also risk of hypoxia and even death due to placecta infarction from sickling crisis.
b) The care is a multidisciplinary involving the haematologist,Obstetrician ,paediatrician and the midwife.Folic acid supplement 5mg/day throughout the pregnancy.Iron supplement is avoided as they have a good iron store from haemolysis.Prophylactic antibiotics is also given against streptococci because they are prone to this secondary to auto/splenectomy.The partner is screen for his genotype because sickle cell disease is autosomal recessive so the chance of the baby could be predicted.Prenatal diagnosis is offered if the partner is a career and the risk associated with CVS and Amniocentesis discussed and backed with information leaflet .Fbc and Msu are checked at routine visit to screen for infection.The visits are also more frequent as this is a high risk pregnancy,close surveillance is warranted.
Crisis at any stage need to be aggressively managed and analgesia such as morphine may be used as in non pregnant.Acute chest syndrome is treated with all urgecy and intravenous antibiotics and heparin used.If haemoglobin is low than her usual,she is transfused if necessary and care is taken for Hb not to be above 10g/dl so that crisis is not precipitated.Role of exchage transfusion is controversial,but could be considered in severely unwell patient.
At term vagina delivery is targeted and c/s for obstetric reason.Good hydration to be maintained throughout labor and effectve analgesia instituted.Anaesthetist to be involved in this.Epidural is not contraindicated and GA should be avoided if c/s especially when transfusion has not been done.Labor should monitored continuosly throughout labor as this a high risk labor.
Third stage is managed actively,breastfeeding encouraged and followup with haematologist postnatal.Progesterone only pills is advised instead of combined pills.
Posted by Freha Z.
Sickle cell disease is disorder of haemoglobin synthesis and is an autosomal recessive disease. There is risk that that if the partener is also career 50% of her offspprings will be effected. During pregnancy there is risk of sickle cell crises to her precipitated by infection dehydration, hypoxia and cold resulting in bone pain and necrosis.
She is at increased risk of developing pre-eclampsia and pregnancy induced hypertension. Moreover, there is risk of pyelonephritis, cystitis and pneumonia.
She is also at risk of anaemia due to folic acid deficiency and iron. As she may require blood transfusions therefore she is at risk of infections with HIV, Hep B, C although the risk is low.
Fetus is at risk of miscarriage, preterm delivery, congenital malformations due to deficiency of folic acid. There is risk of intrauterine growth restriction, intrauterine death.
She should be provided written information and support in pregnancy
(b) A booking scan should be done to confirm the dates. Partener screening is offered and if partener is not career sickle cell disease is unlikely in the offspring but all will be careers. If partener is career then 50% of the children will be effected. In this case she should be offered prenatal diagnosis in form of chorionic villus sampling from 11 to 14 weeks, amniocentesis from 16 to 20 weeks or cordocentesis and termination of pregnancy offered if fetus is effected.
Her care should be shared among Haematologist, obstetrician, Neonatologist and anaesthetist.
Full blood count with haemoglobin and red cell antibodies should be done. She should be screened for syphilis, HIV, Hep B C. Folic acid supplementation should be given and iron required only if serum ferritin are low.
Dipstick testing and regular midstream specimen of urine done regularly and treated with antibiotics if infection develops. If sickle cell crises develops it should be treated aggressively as inpatient with intravenous fluids , antibiotics, oxygen warm fluids. Thromboprophylaxis may also be required.
Regular monitering of blood pressure and proteinuria for early detection of pre-eclampsia. Fetal monitering with regular growth scanning from 28 weeks, uterine umbilical artery velocimetry and biophysical profile.
Posted by Fahima A.
Sickle cell disease(SCD) is an autosomal recessive disease where there is disordered haemoglobin synthesis. As a result red cell becomes sickle shaped especially in hypoxia, infection, dehydration.
Risk of the mother is due to her chronic anaemia & blood transfusion she may have antibodies of red cell in blood & thereby difficulty in cross matching. Though very rare still she risk of hepatitis B, C & HIV infection due to transfusion.
There will be increased risk of pre ecalmpsia ( 14%) , ecalmpsia( 1%), urinary tract infection, pyelonephritis, pneumonia, sepsis & DVT than that of general population. Patient may suffer from sickling crisis, infraction of bone marrow and fat embolism. She may suffer from acute chest symptom, cholelithiasis and spleenic sequestration. Risk of maternal mortality is also higher than the background risk.
Fetus has an increased risk of miscarriage, IUGR, pre term delivery, still birth. If partner of the women is free from sickle cell disorder fetus will be carrier but if partner is the carrier 1: 4 chance of the fetus will have the disease. address of the support group should be given to her.
Antenatal care should be in a tertiary centre in joint clinic with obstetrician, haematolologist, anaesthetist. Her FBC, serum feritin level, red cell folate, liver function test, renal function test should be checked regularly. if history of blood tranfusion screening for hepatitis B,C red cell antibodies should be checked.Tablet Folic acid 5 mg/ day should be given through out the pregnancy. In case of iron deficiency oral iron can be given but parenteral iron is better to be avoided because of the risk of iron overload. Her haemoglobin level should be maintained 10 mg/dl. If mother already have spleenectomy Penicillin prophylaxis is needed all through the pregnancy. Any infection should be treated aggresively & dehydration and exposure to cold should be avoided.
A uterine artery doppler can be done at 22 weeks to assess the risk of pre ecalmpsia. During her antenatal check up regular BP monitoring is essential. Urine dipstick should be done in each visit for protien & leukocyte for detection of pre ecalmpsia & UTI. Regular growth scan should be done from 28 weeks & if IUGR is detected surveillance with doppler, biophysical profile, CTG is essential. If preterm delivery is suspected steroid injection is needed for fetal maturity. In sickling crisis patient should be admitted, adequate analgesia, hydration is to be given. Time & mode of delivery is for obstetric indication but patient shold be informed that thre is increased C/S rate in SCD. A meeting should be arranged with anaesthetist about labour analgesia as there will be increased requirements analgesia among the sickler. Care plan should be well documented & information leaflet should be given to the patient.


Posted by Shyamaly S.
A 20 year old primigravida with sickle cell disease is referred for antenatal care at 10 weeks gestation. (a) What will you tell her about the risks to her health and to her fetus? [8 marks] (b) Which principles underlie your antenatal care? [12 marks]

A)This is a high-risk pregnancy; close antenatal monitoring is crucial. Pregnancy is associated with significant maternal morbidity. Sickle crises are more common, occurring in 35% of pregnancies. It is also associated with a higher risk of thromboembolic disease due to increased plasma viscosity- thromboprophylaxis may be necessary if there are additional risk factors. She is prone to bacterial infections as a result of splenic sequestration and will require antibiotic prophylaxis. She is at risk of anaemia, which may be both folate and iron deficient. There is a higher risk of developing preeclampsia. There is an increased risk of needing to be delivered by Caesarean Section for fetal distress. All these factors conspire to cause an increased maternal mortality rate between 2 and 5%.
The fetus is subject to a 4 to 6fold increase in perinatal morbidity. There is an increased risk of stillbirth, miscarriage, IUGR and preterm labour- the aetiology is increased maternal plasma viscosity and placental infarcts causing placental insufficiency.
The fetus? sickle cell disease status is dependent on the paternal genotype, and it is important to test this antenatally. As Sickle cell disease is an autosomal recessive condition. If the father is unaffected, all the children will be carriers. If the father is a carrier, half will be carriers and half will be affected. If he has sickle cell disease all of the children will be affected. If the partner is a carrier she may wish to proceed with invasive genetic testing to discover the fetus? genetic status.
This discussion will be supported by referral to the Clinical Geneticist, information leaflets and contact with Sickle Cell Support Groups.

B)Multidisciplinary care should be given by Haematologists, experienced Obstetricians, Physicians, Midwives and the GP. There should also be close liaison with a tertiary referral centre. The patient and her partner should be educated about the severity of her condition, the importance of regular antenatal visits, prompt recognition of infections and crises and the need for aggressive management. She should be encouraged to avoid dehydration, painful stimuli and the cold, which may precipitate a crisis.
If she suspects an infection or a crisis she should seek urgent medical attention. The principles of care involve antibiotic therapy, iv rehydration, analgesia, warmth and adequate oxygenation.
Bacterial infections are more common in Sickle cell disease and they can precipitate Crises. Therefore UTIs should be screened for at each visit with an MSU, and she should be on Penicillin V prophylaxis throughout the pregnancy.
Anaemia is common- this should be checked regularly with FBC, red cell folate and serum ferritin. 5mg Folate supplements should be given and iron replacement may be necessary if ferritin is reduced. Exchange transfusions are recommended in multiple pregnancies and recurrent crises but should not be routinely given.
Regular surveillance with fortnightly clinic reviews is important.
There is an increased risk of thromboembolic disease- if there are additional risk factors, e.g. PET or immobility, thromboprophylaxis should be considered. With Sickle cell disease there is an increased risk of renal disease therefore baseline renal function and proteinuria should be assessed.
There is an increased risk of fetal IUGR. From 24 weeks, fortnightly growth, LV scans and dopplers should be performed. There is also a higher risk of developing preeclampsia, so blood pressure and urine dipsticks should be performed at each visit.
The anaesthetist should review her antenatally as she is likely to require good analgesia in labour, and because fetal distress necessitating Caesarean delivery is more common in Sickle cell disease. Antenatally a clear management plan for delivery should be made and kept in the patient?s notes so that these may be followed when she attends in labour.

Posted by AMNA  K.
I will tell her that her pregnancy will be managed as high risk pregnancy in view of increased tendency of sick ling crises compared to a non pregnant woman with sickle cell disease. These sickling crises are very painful and can lead to the damage to the different organs of her body (spleen, kidney, liver) which can affect her health badly.

Frequency and severity of sickling crises increases in the presence of infection so she should report as early as possible if she gets fever, cough (chest infection) increased frequency, dysuria and urgency of urine (UTI). She will have to take prophylactic penicillin throughout pregnency to prevent infections and will need vaccination against pneumonia.

There is an increased risk of thromboembolism so she will be offered thrombopro phylaxiswith LMWH after the assessment on the basis of presence or absence of other risk factors. Her risk of PE (14%) and eclampsia (1%) will be told to her and regular and vigilant watch must be kept on her blood pressure and urine will be analysed by dipstix for proteinuria and she will be educated about the symptoms of PE (headache a epigestric pain and blurring of vision).

Her fetus will be a carrier for the disease if her partner is negative for he abnormal gene but if her partner is also a carrier then the baby will a sufferer for the disease in 25% of the cases and will be chronically anaemic since the first year of life and will be transfusion dependent for the the rest of its life.

There is an increased risk of growth restriction so she (the woman) will have to have a regular growth scan and her chance of having pre term delivery is 25 to 30% so needs to be educated regarding the symtomps of preterm delivery (uterine contractions, leaking per vaginally ). She needs to know that there is 1% risk of still birth in such pregnancies.
written information and name of support group will be provided.
b.) She will be managed under the principle of multi disciplinary approach (haem atlogist, neonatologist and an obstetrician who has an experience of managing such pregnancies in collaboration with sickle cell/ haemoglobinopathy centre. Regular surveillance involving bio chemical, bacteriological and haemotological assessment which include FBC + reticulocyte index, serum iron, ferritin and B12, red cell folate, U&E creatinine and LFTs, blood group and red cell antibody screen, screening for Hep B & C, HIV, syphilis, MSU for culture and sensitivity.to prevent and detect the complications

Patient will be educated to avoid cold weather, hypoxia, infection and alcohol as these increases the frequency and severity of the crises. Prophylactic penicillin and vaccination against pneumonia will be given to her during pregnency. Thromboprophylaxis with LMWH as per protocol and folic acid through out the pregnancy to prevent anaemia.

Transfusion only if required as role of prophylactic transfusion is controversial and treatment of crises under high dependency unit with oxygen, analgesics , hydration,blood transfusion and antibiotics.

Screening will be offered to her partner and option of prenatal diagnosis will be given through CVS to asses the status of the fetus. Fetal growth will be monitered through regular growth scan and umbilical artery Doppler if there is an element of IUGR.
Posted by Abi T.
a)Sickle cell disease is an autosomal recessive condition with a 6 fold increase in perinatal mortality. I will tell her that 35% of pregnancies are complicated by increased frequency of crises eg, acute chest syndrome, painful crises and bone marrow embolism. Acute anemic crises is also increased in 3% of patients. The risk of VTE is also increased. She is more susceptible to UTIs,chest infections and puerperial sepsis. The risk of preeclampsia and eclampsia is more common in women with SCD.
Partner testing shuld be offered to indicate likelihood of the fetus being affected or being a carrier, i.e, if the partner has a trait them 1:2 fetuses will be affected and the other half carriers, if the partner was affected as well, the all the fetuses will be affected and if he is normal then all of the fetuses will be carriers.
There is an increased rate of miscarriage. Due to placental infarction secondary to sickling, there is an increases risk of IUGR and a 1% risk of IUD. The risk of preterm birth is also increased.
Contact details of support groups and information leaflets should be provided.
b) The main principle is to optimize outcome by providing care in a multidisciplinary team comprising an Obstetrician with special interest in maternal medical disorders, Haematologist, Anaesthetist, Neonatologist and Midwife. Antenatal visits should be more frequent. A care plan should be documented for when she attends in labour.
Patient education is important in avoiding precipitating factors for crises such as the cold and dehydration. She should be urged to get urgent medical attention should she suspect a UTI or symptomatic for chest infection.
Hyperemesis and dehydration in early pregnancy as well as presentation with any form of crises should be treated appropriately and aggressively with oxygen,hydration, antibiotics and opiate analgesia ,with Haematologist input. Thromboprophylaxis risk should be assessed at each admission and offered if there is prolonged immobilization or severe infection.
Folic acid 5mg/day should be prescribed throughout pregnancy due to increased haemopoeisis.
Hb should be maintained at 60-70% of normal and exchange transfusions performed for crises or in multiple pregnancies, liaising with the Haematologist. The role of prophylactic transfusions is controversial. Iron should be prescribed if ferritin is low.
Baseline FBC, U+E and LFT should be checked at booking and repeated each trimester. Blood grouping and antibody screening should also be checked as she may have unusual antobodies due to past transfusions. Urinalysis must be done at each clinic visit to exclude proteinuria and UTI. Blood pressure measurements must also be done regularly to detect hypertension.
As she may have had previous transfusions, the risk of HepB/HepC and HIV are increased hence, testing should be done at booking.
Penicillin V prophylaxis should be continued throughout pregnancy to prevent infections with encapsulated organisms.
Fetal surveillance with serial growth scans and Doppler assessments are necessary to detect IUGR.
Posted by Parveen  Q.
Sickle cell disease is an autosomal recessive condition associated with increase perinatal and maternal mortality and morbidity. The perinatal mortality is increased 4-6fold, and maternal mortality is increased estimated to be 2.5%. The risk to the foetus involves misscarriage, IUGR , prematurity and fetal distress. The risk to the mother during pregnancy is commonly crisis in the form vaso occulusive crisis. The other risks are increase risk of thrombosis, bone marrow embolism, thrombo embolism, increase risk of infection particularly, pnemonia, UTI, puerperal sepsis. Also increase incidence of pre eclamsia, anaemia, placental abruption. All informations should be documented and she should be given the name of support groups.

(B)Her antanatal care involves mutidisplinary team of obstetrician with an experience in managing such cases, haematologist, physician,midwife , and health visitors. The aim of the mangement is to give effective care, diagnose crisis, aggressive management in such situation to avoid potential complications. During her intial visit, if partner was not screened earlier, it should be undertaken to know the risk to foetus,which is 50%if partner is with sickle cell trait.Folic acid 5mg,should be given throught out pregnancy and pnemoccocal prophylaxis by pencillin V 250mg should be given. She should have frequent antenatl visit, during each visit, haemoglobin and midstream urine should be checked to treat anaemai and UTI early. She should be advised to avoid dehydration, to keep warm and avoid sports like scuba diving. Crisi should be managed aggresively by admitting her, giving her adequate analgesia, in the form of s.c or iv morphine infusion or other opiates,rehydration,and treating infections by iv antiobiotics. In acute chest syndrome , which is characterised by fever, anaemia, pulmonary infection , heparin and antibitics given, to control infectin and thrombosis. Blood transfusion may be required in severe anaemia. The role of exchange transfusion is controversial. It may decrease the crisis but has its own risk of transfusion reaction, precipitating crisis, and infection. Regular check up of blood pressure to detect and treat PET. USS for fetal growth, from 24weeks every fortnight , to ensure better perinatal outcome. She should be advised about preterm labour and to report earlier so that steriods given to reduce neonatal morbidity and mortality. She should be encouraged mobilisation and wear thromboembolic stockings to avoid thrombosis.
Posted by sailaja devi K.
I will tell the woman that pregnancy in sickle cell disease woman is associated with increased maternal and perinatal mortality and morbidity. She should know that sickle cell disease is associated with defect in haemoglobin chains; life expectancy of red cell is reduced from 120 days to 5- 30 days. Major complications of sickle cell disease are chronic anaemia and intravascular thrombosis leading to crisis. Because of this changes fetus and mother are risk.

Fetus is at risk of miscarriage, intrauterine growth restriction. IUGR risk is seen in 21 neonates out of 100 (21%) because of hypoxoa ,anaemia. Pregnancy is at risk of preterm delivery, 21 out of 100 delivered before 37 weeks. She should know that risk of still birth is 1 in 100 (1%) and 6 fold risk of perinatal mortality. As the fetal haemoglobin has different globin chains, fetus is not at risk of fetal hemoglobinopathy. Neonate is at risk of hemolytic disease of newborn due to red cell antibodies.

Discuss the option of partner screening for sickle cell disease. The chance of child getting sickle cell disease is 1:2 if the partner is a trait. If the child is at risk of disease discuss the options of prenatal diagnosis. Chorionic villi sampling between 11to 14 weeks and DNA analysis is preferred. CVS allows for early diagnosis but associated with 1% fetal loss. Discuss with the woman about her views of affected child, option of continuation/ termination of pregnancy.

She should be made aware that complications of sickle cell disease increase in pregnancy and crisis occurs in about 35% of woman. Fall in haemoglobin occurs in 3 out of 100 by more than 30% below base line. She should know that she is at risk of infection in urinary tract and chest infection, risk of preeclampsia, VTE and bone marrow embolism. Support the verbal information with written information leaflets.

Multidisciplinary care with obstetrician, consultation with sickle cell/ hemoglobinopathy centre and haematologist and with specialist midwife. Advise the woman to continue folic acid 5mg per day for effective erythropeosis & to prevent megaloblastic anaemia.Pencillin prophylaxis to be continued because of hyposplenisn secondary to sickle cell damage.

Sickle cell woman is at risk of anaemia, infection and compromised renal and hepatic function. Regular hematological, biochemical and microbiologic assessment to identify and treat complications early. Investigations include FBC, reticulocyte count, serum iron, ferritin and B12, red cell folate. Renal function test includes urea, creatinine and electrolytes, LFT. Check blood group and red cell antibody screen. Screen for Hepatitis B and C, HIV and Syphilis. MSU for culture and sensitivity.
Antenatal check up every 2 weeks till 30 weeks, followed by weekly check up to detect and treat complications. Pregnancy is at risk of preeclampsia,preterm labour so check biood pressure ,urine protein at every check up & enquiry about any abdominal pains.Any signs of infection should be treated aggressively.Avoid dehydration,exposure to cold as it increases risk of sickling.

Role of transfusion is controversial. Any transfusion programme must be individualized and should be under the supervision of an experienced haematologist. Aim of prophylactic transfusion is to reduce the amount of HbS, there by reducing the risk of sickling. Prophylactic transfusion carries the risk of transfusion reaction, blood borne viral infection and development of red cell antibodies. With prophylactic transfusion there is no improvement in obstetric outcome, but it reduced the crisis.

Fetus is at risk of IUGR so assignee correct gestational age and monitor growth with serial scans and Doppler.

Symptoms of crisis overlap with the symptoms of pregnancy, there should be low threshold to diagnose and treat complications. Asses the risk factors for VTE and consider prophylaxis.

Plan of management should be made in consultation with haematologist, midwife and a copy of plan hand it over to the mother.Patient education & information about support groups
In the absence of obstetric indications, spontaneous labour at term should be awaited