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MRCOG PART 2 SBAs and EMQs

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notes	336
EMQ	1502
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Essay 263 - Sickle cell disease

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		Posted by hoping .. Mon Feb 18, 2008 06:50 am
I would obtain further information regarding severity of sickle cell disease in her with regards to any episodes of crisis is past, any compromise of renal,cardiovascular system. If she requires frequent blood transfusions. If she had splenectomy in past. I would check if she is currently on any medication. I would check for any significant medical problems especially thromboembolism. Her gynaecological history including menstrual and contraception use and past obstetric( if parous) should be obtained. Any significant medical problems in her first or second degree relatives should be checked. I would also check for her smoking, alcohol or use of any recreational drugs. Her Rubella and hepatitis immune status should be checked . Her occupation should also be asked for. I would ask if she is aware of her partner\'s rhesus status. Her FBC and serum ferritin levels should be checked. I would also check for Liver function test and urea and electrolytes. Her immunity to rubella should also be checked. Hepatitis and HIV status should be confirmed. Her blood group and presence of any antibodies in serum should also be confirmed especially if she had multiple transfusions. Her partners sickle cell status should be checked. Prepregnancy interventions should be guided towards improving her general medical condition.Avoiding alcohol, smoking improves pregnancy outcome. Healthy diet and excercise to aim BMI between 20-24 is ideal. Intake of 5mg folic acid at least three months reduces risk of fetal neural tube defects and maternal anaemia. Her medication should be reviewed and potentially teratogenic drugs should be swapped for alternatives if maternal condition allows. Immunisation for rubella, hepatitis B if nonimmune reduces risk of infection in pregnancy. I would obtain her partners haemoglobinopathy status and advise her in light of results. if her partner is not affected and is not a carrier then her offspring wouldnot have sickle cell disease but will carry one affected gene which may lead to symptoms when exposed to stress. If her partner is a carrier then child has equal possibility of being a carrier or have disease. If partner also has sickle cell disease then unfortunately her child will have sickle cell disease.
		Posted by Reiaz M. Mon Feb 18, 2008 07:29 am
It is important to determine the patients gravidity and parity and the outcome of any previous pregnancies. A prior baby affected with sickle cell disease (SCD) is determined. A history of infertility is also determined. The frequency, type and last occurence of sickle cell crises must be determined. A prior history of thromboembolic events and their treatment is of utmost importance. The occurence of urinary tract infections is sought. Symptoms of anemia are elicited. A history of menstrual disturbances in particular irregular menses is determined. Cervical smear reults are elicited. It must be determined is she is using folic acid and if she is on any long term suppressive antibiotic treatment. A history of prior splenectomy is determined. Any other medical conditions and a family history of sicle cell disease is noted. A family history of SCD in the patients partner is also determined. Use of cigarettes, alcohol and illicit drugs are also determined. b) A FBC is done to assess the degree of anemia. Hemoglobin electrophoresis is done to determine the type of sickle cell disease and to confirm the diagnosis. Serum and red blood cell folate levels are assesed. Hemoglobin electrophoresis is conducted on the patients partner. Midstream urine is sent for microscopy, culture and sensitivity. A cervical smear is done if not done in the past 3 years. c) This patient should be counseled in conjuction with a hematologist and a geneticist to ensure prepregnancy optimisation. Written information must be provided to reinforce the information given to her. The patient is advised to use folic acid 5 mg orally once daily. SCD is associated with a relative folate deficiency due to increased breakdown and production of erythrocytes. Prophylactic folic acid decreases the risk of neural tube defects in the infant and also sustains the increased erythropoiesis of pregnancy. She is advised to stop smoking and if obese she is advised on weight loss. She is at risk of venous thromboembolism and weight loss and cessation of smoking may decrease this risk. The use of routine iron supplementation is controverisla as there is no deficiency of iron in these patients. Antibiotics commonly used in sickle cell disease may have teratogenic effects and these should be either discontinued or changes to non teratogenic drugs. Treatment of urinary tract infections may decrease the risk of preterm labour. d) SCD is an autosomal recessive condition. I will tell her for her offspring to have the disease her partner must also carry the sickle cell gene. If her partner does not carry the gene there is no risk of the offspring being affected. However all offspring will be carriers of the disease and can pass it on to their children. If he is a carrier there is a 50% risk of SCD and a 50% risk of carrier offspring. If the partner also has SCD then all her children will be affected by the disease. She is provided with written information about these risks.
		Posted by Srivas P. Mon Feb 18, 2008 08:05 am
(a) I will like to assess severity of the disease including past episodes of crisis, blood transfusions, and any hospital admissions. H/O excess fatigue, myalgia, arthralgia suggesting anemia, anemic crisis. H/o Pain abdomen, chest pain and how repetitive, as recurrent episodes may cause irreversible organ damage including of liver, spleen, Kidney and lung. Urinary complaints like frequency, burning of urination, Hematuria. H/O seizures to be taken, to rule out any CVA or ICH. H/O any episode of thrombo embolism, would need to be addressed in any future pregnancy. H/o using medications like hydroxyurea which are disease modifying drugs given to decrease crisis but use in pregnancy is yet unproven as teratogenicity reported in animal studies. I would take her smoking history as any smoking active or even passive can induce hypoxia. O/H miscarriages, stillbirths, preterm labors, pre ecclampsia to understand her risks in future pregnancy I would take her contraceptive history and would advise her one until she is stabilized and can plan pregnancy. (b) I would take FBC, Reticulocyte count, serum iron, ferritin and B12, red cell folate levels. Blood group and red cell antibody screen so that matched blood is available. This is important if she has received multiple transfusions. Peripheral smear for sickle cells to see features of hemolysis and hyposplenism. I will do Hemoglobin electrophoresis to see proportion of sickle cells, F and A2 fractions. I will do urine dipstick and culture to detect asymptomatic bacillluria. U&E, Serum Creatinine and LFTs-bilirubin level to detect hemolysis. Other LFTs to detect possible coincident cholelithiasis. I will screen for Hep B & C, HIV, syphilis and rubella status (c) Educating the woman about her condition, risks to her and the fetus due to SCD in pregnancy, and measures to be taken to minimize the risks helps improve pregnancy outcome. She can be told to avoid factors precipitating crisis e.g cold, dehydration, exercise and stress thereby averting or minimising a likely vaso occlusive crises. Similarly telling her about symptoms of early infection, the need to treat infections help avert sickle cell crisis. Screening urine for asymptomatic bacilluria prevent UTI in pregnancy. She can also be given vaccination against common infections like Pneumococcal, H Influenza and meningococcal infections and Hep A, hepB vaccination and for rubella if she is not immune. She can also be put on prophylactic penicillin if she shows signs of hyposplenism and has repeated infections. I would stop drugs like hydroxturea whose safety profile is unsure, before pregnancy. Screening her partner for sickle cell trait and assessing her risks of having a baby with SCD, helps in early detection of SCD in fetus and gives her an option of termination if she wishes. She can also be screen for co-existent G6PD deficiency which is likely in same high risk population. Assessing baseline renal function, Liver function helps in later monitoring her disease status in pregnancy and also helps counsel against pregnancy if she is already in liver or renal failure. Hemoglobin levels can be optimized by blood transfusions. She can be put on pre conception higher doses of folic acid which can prevent NTDs as she is at risk of folic acid deficiency due to repeated hemolysis. d) SCD is autosomal recessive disease and if partner has sickle cell trait, baby has 1:2 chance of having SCD. If he is not a carrier, her babies will still be carriers of sickle cell trait with risks of occasional sickle cell crisis. If her partner is a carrier, she may undergo preimplantation genetic diagnosis to detect fetal status but that would require an IVF or she may have CVS in first trimester. Alternately she can have donor insemination. I will give her information leaflets.
		Posted by Jilly L. Mon Feb 18, 2008 08:40 am
A 23 year old woman with sickle cell disease attends the pre-conception clinic. (a) What information would you obtain from the history? [6 marks].(b) Which investigations would you undertake? [4 marks]. (c) Evaluate the pre-pregnancy interventions to optimise pregnancy outcome. [7 marks] (d) What will you tell her about the likelihood of her offspring inheriting the condition? [3 marks]. a)Sickle cell disease is a disease of haemoglobin chain function that can cause maternal and perinatal morbidity and mortality. Her general health will affect the outcome of pregnancy so the severity of her anaemia and frequency of crises are important in order to counsel her. Any complications such as deep vein thrombosis, avascular necrosis and renal impairment is revelant. The outcome of previous pregnancies will also provide information regarding future pregnancies such as prematurity, intrauterine growth restriction or pre-eclampsia as these are more common in pregnancies with sickle cell disease. Her partner\'s sickle cell status will affect the likelihood of the fetus inheriting the disease. Her drug history should be reviewed - penicillin prophylaxis is safe to continue and she should take 5mg folic acid. She should be advised not to smoke. b) A full blood count may reveal a microcytic anaemia. Ferritin levels may be normal. Folate levels may be low. A blood group and antibody screen is needed in case of the need for blood transfusion. Baseline renal and liver function tests can be taken due to the risk of developing pre-eclampsia. Urinanalysis should be checked to look for protein which may signify renal disease. Blood pressure should be checked for hypertension. Her partner\'s sickle cell status should be checked by haemoglobin electrophoresis. c) She should continue penicillin prophylaxis as this is not teratogenic. She should take 5mg folic acid preconceptually. She should be advised to normalise her body mass index if needed and to stop smoking and limit alcohol intake. Her immunity to rubella should be checked. If her partner has sickle cell trait she could consider preimplantation genetic diagnosis to select an embryo not affected by sickle cell disease. This would necessitate IVF treatment not necessarily available on the NHS. She should be seen in a specialist joint obstetric and haematology clinic and given written information about her condition and the risks posed by pregnancy. d)If her partner has sickle cell trait, 50% of the fetuses will have sickle cell disease and 50% will have sickle cell trait. If her partner is not a carrier, all the fetuses will have sickle cell trait. If her partner has sickle cell disease, all their offspring will also have sickle cell disease.
		Posted by S M. Mon Feb 18, 2008 09:52 am
I will obtain information about her general health specifically focussing my questions towards symptoms like shortness of breath and fatigue to rule out symptomatic anaemia. I will enquire about symptoms of chest infection and bony pains to rule out a chest crises and bony crises. I will take a personal and family history of chronic medical conditions specifically hypertension and thrombophilia as the risk of thromboembolism and preeclampsia would increase if these were present. I will ask if she is taking folic acid as there is a risk of macrocytic anaemia due to haemolysis. I will enquire if she is on any prophylactic antibiotics to prevent infections. I will take an obstetric history asking specifically about previous pregnancies, miscarriages and contraception if any. If the lady seems to me an immigrant (as sickle cell is more common in Afro Caribbeans), I will ask her when did she move to UK and whether she had adequate support framework here and how was the health care in the country she came from as confidential enquiry showed that immigrant women were more at risk of developing complications. Last but not the least, I will ask if her partner too suffers from the disease or is a carrier of the trait. I will undertake a FBC to find out her haemoglobin and to rule out active infection. I will also arrange a chest X Ray and a urine dipstick to rule out infection. I will arrange for her to have haemoglobin electrophoresis to rule out coexisting HbC/ Thallasemia. I will arrange for the lady to have a red cell folic acid estimation to rule out folic acid deficiency. I will arrange for the partner to have a genetic screening if he doesn?t know his status with regards to sickle cell. I will arrange for the patient to be seen by an haematologist so that her medical condition can be optimized prior to conception and any anaemia or folic acid deficiency be treated. I will advice her to take 5mg of folic acid per day to prevent its deficiency during pregnancy and in case of haemolysis. I will start her on Penicillin V 250mg BD (or other medication if she is allergic) to prevent infections in pregnancy as there is an increased risk of developing a crisis. I will advice her to avoid dehydration and hypoxia as these too can trigger a crisis. I will advice her that she is at an increased risk of thromboembolism and therefore should use pressure stocking and low dose aspirin if there is decreased mobilization eg even in a short haul flight. I will arrange for her to have regular blood pressure checks and growth scans as there is a risk of preeclampsia and intrauterine growth retardation. I will inform her of the symptoms of a chest, vaso occlusive or bony crisis and advice her to seek medical help immediately if she experiences them. I will ensure that patient and her partner have been seen by a geneticist for preconception screening and estimation of risk to offspring. If the partner has sickle cell disease, all offspring will be affected. If the partner is a carrier of the trait, 50% of the offspring will be affected and 50% be carriers. If partner is neither a carrier nor a sufferer, all offspring will be carriers.
		Posted by Sahathevan S. Mon Feb 18, 2008 11:41 am
(a) What information would you obtain from the history? [6 marks] A detailed history of previous sickle cell crisis eg acute chest syndrome, aneamic crisis and bone marrow embolism, should be elicited and also History of precipitated conditions of sickle cell crisis such as dehydration, infection and cold are important information. If she knows her partners inheritance of sickle cell disease from previous investigations it would be valuable information.History of previous pregnancies and outcome are important. Also complications like PET Preterm delivery, still birth should be noted. History of compromised renal and hepatic function and any thromboembolic disease and treatment history should be obtained. Recent Hb check, iron treatment and blood transfusions are vital informations. Any known problem with blood group antibodies and problem of cross matching are important information.Current treatment of iron chelationtherapy, penicillin prophylaxis also should be asked. History of screening for blood borne infections such as HeB ,C ,HIV ,Syphillis should be obtained. Folic acid supplementation and dosage should also be included drug history. Any previous problem of compromised venous access should be clarified. History of rubella immunization is useful. Compliance of sickle centre and haematologist follow up should be asked. (b) Which investigations would you undertake? [4 marks]. Sickle cell status of her partner should be investigated. Screening for blood borne infections Hep B,C and HIV and Syphilis is needed.FBC reticulocyte index , Baseline LFT , Renal function tests should be checkled.Blood grouping and and antibody screening also to be requested. HbS level and HbA level also to be investigated. Ferritin level should be checked and if elevated or there is history of iron overload an ECHO and cardiac assessment should be performed to exclude cardiomyopathy.Urinalysis and MSU C&S should be checked. Serum iron, redcell folate and B12 should be requested. (c) Evaluate the pre-pregnancy interventions to optimise pregnancy outcome. [7 marks] Risk of fetus would inherit the condition or to be carrier depending on the status of her partner. Therefore partner screening and regarding prenatal diagnosis should be offered in future pregnancies if these aspects have not already been addressed. If partner found to be positive or carrier genetic counseling will be offered to the couple regarding the possible interventions and outcome of pregnancy. Maintain HbA concentration at 60-70% is optimal for good pregnancy outcome. .Folic acid should be offered (5mg/daily), though iron should not be given unless low ferritin levels indicate a coexisting iron deficiency. Role of blood transfusion is controversial this should be balanced against the risk of alloimunisation and transfusion related infections.if the patient with Iron chelation it should be stopped as it is contraindicated to pregnancy , patient should be seen by hematologist and advice obtained .Abnormal blood antibodies level ( due to multiple transfusions ) should be identified.Blood borne infections (Hep B, C, HIV and syphyllis) should be screened and appropriately treated. Renal and hepatic function should be investigated to identify any compromise if severe impairment of renal function pregnancy should be discouraged. Abstinence of smoking and alcohol should be advised .Written information and contact details of support group should be provided. (d) What will you tell her about the likelihood of her offspring inheriting the condition? [3 marks]. I will tell her that if her partner has a trait 1:2 fetuses will be affected and other half carriers. If the partner was affected all the fetuses will be affected and if he is normal all the fetuses will be the carriers.
		Posted by S M. Mon Feb 18, 2008 01:03 pm
A 23 year old woman with sickle cell disease attends the pre-conception clinic. (a) What information would you obtain from the history? [6 marks].(b) Which investigations would you undertake? [4 marks]. (c) Evaluate the pre-pregnancy interventions to optimise pregnancy outcome. [7 marks] (d) What will you tell her about the likelihood of her offspring inheriting the condition? [3 marks]. a) I would like to find out about the severity of the disease and whether it is well controlled. Recent and frequent episodes of painful crises and the presence of risk factors such as infections would suggest poor control. A medication history would identify medication that is harmful to the fetus. I would find out the sickle cell status of the partner since this has implications on the fetus. b) I would do a full blood count to determine the haemoglobin level since this disease can cause sever anaemia. A renal function test would be needed to assess the renal function since there may be reduced renal function. I would offfer genetic counselling and screening to the partner. c) Effective contraception should be taken until the sickle cell disease is satisfactorily controlled. This will reduce the risks of maternal and fetal morbidity and mortality. Folic acid should be taken to reduce the risk of neural tube defects. Ineffective erythropoeisis may lead to deficiency in folic acid. Dehydration should be avoided since this can precipitate a painful crisis. Penicillin should be taken prophylactically to reduce the risk of pneumonia and other bacterial infections. The woman should carry a haemoglobinopathy card in case she collapses, the concdition will be identified. An information leaflet should be given to support the consultation. d) The likelihood of her offspring inheriting sickle cell disease is dependent on her partner\'s sickle cell status. If the partner has sickle cess disease, then all children will be affected. If the partner has the sickle cell trait, then there is a 50% chance that the children will be affected and 50% chance that they will be carriers. If the partner does not have sickle cell disease or trait, then there is no risk of the children being affected. However, they will all be carriers.
		Posted by Elizabeth V. Mon Feb 18, 2008 01:28 pm
A detailed history is important to decide on the effect of the disease on various systems and evaluate the risk for the planned pregnancy. Details of the age at diagnosis,crisis in the past and treatments such as splenectomy ,medications such as oral penicillin,antihypertensives are relevant in this situation.Liasing withthe haematologist who is treating her would retrieve the required information. Details of previous pregnancy outcome and contraception are important.A low dose COCP would be suitable to allow sufficient time to evaluate and optimise the maternal condition prior to attempting pregnancy. Details of immunisation against Hep B,Pneumococci in the past to plan prepregnancy care . Family history of any other inherited condition,or blood disorder should be asked for.Details of partner\'s status and family history are important to assss risk of having an affected child. Investigations include a full blood count,red and cell serum folate,serum ferritin as most of thee patients suffer form anaemia due to hemolysis.Urea ,electrolyte ,creatinine ,liver function test are important to assess the function of these organs as often they would have undergone damage at the time of a sickling crisis.Serology for Hep B ,Hep C,HIV,haemoglobin electrophoresisare important .Screening for glucose 6 phosphate dehydrogenase deficiency,as this is frequently associated with sickle cell disease.Urine should be examined for proteinuria ,haematuria and infection.Partner should be screened for carrier state to decide on risk of affecting the baby. Pre pregnancy interventions include Correction of anaemia ,control of hypertension,diabetes and optimising the the function of the organ affected in previous episodes of sickling crisis as it helps to improve the pregnancy out come ,as well as improve fertility. Educating on the increased risk of crisis in pregnancy and the avoidance of precipitating factors helps to create awareness and improve pregnancy outcome. Folic acid supplementation(5mg daily) is important to reduce the incidence of neural tube defect and also to correct the deficiency that is frequent in these patients due to the hemolysis. Rubella ,Hepatitis B ,and pneumococcal vaccination can be given at this time as these patients are at increased risk of infection by encapsulated organisms due to splenectomy.Pneumococcal vaccine does not protect against all srains and hence start oral penicillin.Advise to avoid pregnancy for a month after Rubella vaccine. Partner screening can be done to determine the risk of an affected child and for genetic counselling.This also gives the couple opportunity to think about oocyte donor,adoption. Sickle cell disease is autosomal recessive and hence manifests only of homozygous.If her partner is not a carrier then none of her children will be affected ,although the will be carriers ,who can have a normal life.If her partner is a carrier then 50% of her children will be affected .Inform her about prenatal diagnosis such as chorion villus sampling and the risks associated with it such as miscarriage 2%. If partner is affected, all the children will be affected. Offer genetic counselling,written information leaflet and contact numbers of support groups
		Posted by Anna A. Mon Feb 18, 2008 05:23 pm
a. The number of previous episode of sickle cell crisis or any complication like VTE or spesis should be asked. Pregnancy and fetal outcome if any should be obtained. The carrier status of the sickle cell diseases of her partner should be asked. This will help to counsel the couple about the risk of their children to suffer sickle cell diseases. Renal function and presence of anaemia should be reviewed in her folder. Presence of splenomegaly or any removal of spleen should be assessed. Frequencies of blood transfusion indirectly picture the severity of her sickle cell diseases status. Presence of blood born diseases like hepatits B, C and CMV should be obtained. Vaccination history like Rubella or Hep B should be noted. Medication like folic acid or penicillin prescription should be asked b. Full blood count with reticulocytes count, serum feritin and red cell folate should be sent. Sickle cell carrier status of her partner should be determined. Screening for Hep B, C, HIV and Syphilis should be sent. Immunity status of Rubella should be determined. Blood group and antibody status should be assessed. Creatinine, urea and electrolyte with liver function should be obtained. c. Ensure stable condition of her sickle cell disease before embark to future pregnancy. Prescription of long term contraception should be given if her sickle cell condition is not optimized. Her hemoglobin should be maintained in optimized condition by treating underlying cause of anaemia. Concurrent renal dysfunction should involve early referral to nephrologists to avoid further deterioration of her renal function. Sickle cell status of her partner should be determined and referral to a genetics expert should be arranged if her partner is a carrier of sickle cell diseases. Folic acid of 5mg should be given for 3 months before conception. Hepatitis B and Pneumococoal vaccination is prudent. Education about possible precipitating factor for sickle cell crises should be given. The precipitating factor for sickle cell crises includes sports like scuba diving or skydiving, dehydration and acidosis. Information leaflet and group support contact should be provided. d. Sickle cell disease is an autosomal recessive disorder. If her partner is a carrier then there is 50% chance of her children will suffer sickle cell disease and 50% of them become a carrier. If her partner is normal, then all her children will become a carrier. Information leaflet should be provided to her.
		Posted by Azza S. Mon Feb 18, 2008 09:37 pm
I will enquiry about her general well being and specifically about palpitations, breathlessness and fatigability. I will also ask about chest symptoms, bone pain and urinary symptoms. Her menstrual history, date of last period, regularity. Also her obstetric history as previous pregnancies and outcome and complications. If there is sub fertility. I will ask about previous blood transfusions, and any blood received out of UK. Previous surgical history as spleenectomy or any abdominal or pelvic surgery. I will ask also if her partner had been investigated before for any haemoglobinopathies. I will request a FBC, ferritin level, and red cells folate level and urine function test. A mid-urine sample for culture and sensitivity will also will be offered. I will request Rubella immunoglobin antibodies IgG. I will counsel her and request investigation for hepatitis B & C and for HIV. A multi-disciplinary approach with a hematologist, pediatrician and obstetrician. Pre-pregnancy Folic acid [400mcg] proved to be effective to minimize the risk of neural tube defects. In her situation I will recommend a dose of 5mg because of the increased haemolysis due to sickle cell disease. I will also request penicillin prophylaxis to minimize the risk of chest infections. I will recommend Rubella and hepatitis B vaccines if proved to be seronegative, together with a low dose contraceptive. Also I will offer pneumococcal vaccine. Women with Sickle cell disease are more prone to develop venous thromboembolism especially on the combined contraception. Her haemoglobin should be maintain at around 10 mg/l with minimal abnormal forms to improved pregnancy outcome. In case of a positive test for the blood borne infection [Hep.B,C or HIV] management with infection physician to reduce her morbidity and to reduce the risk of vertical transmission. The general live style advise will improve her health and the pregnancy outcome like to stop smoking and to reduce alcohol drinking. Also she should be advised to avoid dehydration, hypoxia and infection to avoid crises. A genetic consultation if her partner is a carrier or diseased for any haemoglobinopathies. A written information should be offered. To counsel her about the risk to her offspring will depend on her partner screening test. If he is normal and not a carrier, then all her offspring will be carrier and non will be diseased. If he is a carrier, half her offspring will be diseased and the other have will be carrier. She will be offered prenatal diagnosis. If he has the disease then all her offspring will be affected.
		Posted by a P. Tue Feb 19, 2008 06:27 am
a.An enquiry is made into the type of sickling condition the patient has; homozygous (HbSS) or sickle cell/HbC (HBSc). The former tend to have a chronic haemolytic anaemia and the latter are not usually anaemic but at risk of sickling which may be overlooked in pregnancy. A past history of splenectomy places the patient at risk of infection and a drug history is taken to confirm prophylactic use of penicillin. A history of previous blood transfusions is noted. Past gynaecology and obstetric history would provide information on her menstrual cycle and any previous pregnancies and their outcome respectively. A history of sickling crises is noted including any precipitating factors, the most recent episode as well as any episodes of thromboembolism. This will facilitate optimisation of pre-pregnancy management upon liaison with the haematologist. b.Investigations include haemoglobin electrophoresis to ascertain homozygous or haemoglobin SC status and to determine the level of fetal haemoglobin (the greater the level the better the outcome) and percentage of sickle haemoglobin. A full blood count and film is performed to look for anaemia. Rubella status is checked. The partner is screened to assist counselling regarding the risk of having an affected child. c. This commences with liaison with the patient?s haematologist to obtain additional information and assistance as appropriate. Rubella vaccine is administered if the patient is non-immune and she would be advised not to get pregnant for 3 months. However, if she falls pregnant before then, this is not an indication for termination and she should be reassured. Folic acid 5mg daily is commenced due to an increased risk of neural tube defects and miscarriage. Prevention of infection, acidosis, hypoxia and dehydration by seeking medical advice early minimises a potential sickle cell crisis. Blood or exchange transfusion may be required to correct severe anaemia. This is associated with risks notably transfusion reaction, precipitation of crisis, infection, red cell antibodies or iron overload and should be performed only upon advice from the haematologist. Urinalysis and a midstream urine to exclude and treat infection may be performed. d. Sickle cell disease is an autosomal recessive condition. Using diagrams to aid explanation, if the partner is sickle negative, all of the offspring would be asymptomatic carriers (sickle trait). If the partner is sickle trait, 1 in 2 children would be carriers and 1 in 2 would be affected. If the partner has sickle cell disease. all offspring will be affected. Written information would be given and the couple referred for genetic counselling.
		Posted by Idris O. Tue Feb 19, 2008 09:20 am
a)I would ask about the specific type of sickle cell disease as HbSC becomes worse in pregnancy. Her frequency of crisis and the last episode including admission to hospital. Her steady state haemoglobin and past blood transfusion. This is to determine her state of health and if ready for another pregnancy. Her previous pregnancies and their outcomes because of increased risk of miscarriage, preterm delivery and IUGR. Drug treatment and the last haematological follow up. I would ask about family history of this same condition as it runs in families. I would also ask about the haemoglobin electrophoresis of the partner if known. b)I would do her FBC, renal and liver function test. I would determine her HbF and HbS levels.I would check her rubella immunity. I would check the urine to exclude UTI.I would assess the haemoglobin electrophoresis of the partner. c)Anemia is corrected with 5mg folic acid daily. This helps production and maturation of new red blood cells as a consequence of chronic hemolysis. Blood transfusion is however, required if drastic drop in haemoglobin, develop acute chest syndrome or bone crisis. This increases the oxygen carrying capacity of the blood and rapidly help in maintaining a steady state. Urinalysis helps in early detection and prompt treatment of UTI. This reduces the risk of pyelonephritis , sickling crisis and improves pregnancy outcome.The liver and renal function tests helps in determining her state of health and planning for the risk that may be associated with the pregnancy. Haemoglobin electrophoresis showing high HbF and low HbS levels are associated with good pregnancy outcomes. There may also be reduced risk of sickling.Assessing rubella immunity allows rubella vaccination and protects against the risk of congenital rubella if come in contact with the virus in pregnancy. Life style modification of avoiding dehydration, hypoxia and acidosis. In addition, stopping smoking and alcohol have the benefit of improving the overall health. There is also reduction in the risk of perinatal morbidity and mortality.The determination of the haemoglobin electrophoresis of the partner helps in assessing the risk of having an affected child. If this is declined or increased risk in the fetus,invasive testing in pregnancy with chorionic villous sampling would determine the haemoglobin electrophoresis of the fetus. d)She would be informed this is an inherited condition from an abnormal gene passed from one or both parents. If the partners genotype is AA, all her offsprings would be carriers and none with the disease. If however, the partner is a carrier, she has 50% of her offspring being carriers and 50% with the disease.I would give her information leaflet on SCD.
		Posted by Farina A. Tue Feb 19, 2008 05:40 pm
a) First of all I would like to know about her family history of sickle cell disease. Her partner status is also essential to know as it will predict the risk to the neonate .the severity of the disease should be known in terms of its complications like bone infarction. Recent (within past 6 months) episode of pulmonary embolism, renal pathology, aplastic crises are the factors which can lead to an advice against pregnancy. History blood transfusions, smoking and alcohol consumption is also important. Her profession is also important to know as school teachers are prone to acquire parvovirus infection during an outbreak. b) I would like to check her FBC, reticulocyte count, serum iron, ferritin B12 and red cell folate concentration in order to have an idea about the severity of the disease. Her blood group and red cell alloantibodies should be known as she may require transfusions. LFT and UCE should be known along with midstream urine to detect the presence of asymptomatic bacterurea. c) Pre pregnancy folic acid supplements 5mg reduces the likelihood of neural tube defects. Smoking should be avoided to minimize the risk of hypoxia. Excessive alcohol, tea and coffee consumption should be discouraged to minimize the risk of acidosis and dehydration. Prophylactic penicillin administration for infections in a non functioning spleen is wise. Pnoumococal vaccination is advised as these pts are prone to infections in the absence of a functioning spleen. HIV, HepB and C, screening and vaccination are advised as these patients are prone to the blood borne infections. Opportunistic screening for G6PD deficiency is advised as the concomitant presence with sickle cell disease is common. Patient should be provided with haemoglobinopathy card for identification. Maintenance of good hydration and avoidance of hypoxic sports like scuba and sky diving is advised. Pre existing anemia can be treated with blood transfusion. Oral iron therapy is not recommended unless serum iron and ferritin levels are low. d) If her partner is suffering from sickle cell trait then the risk to have an affected baby is 1: 2.
		Posted by Dr seema jain J. Wed Feb 20, 2008 02:20 am
a)History taking should include eliciting of symptoms like breathlessness on exertion suggestive of severe anemia,bone pains and h\|o cerebrovascular accident.Past history of any pregnancies,any complications during pregnancy and its outcome should be asked.Mode of contraception and past history of blood transfusions is important.Factors precipitating sickle cell crisis or hemolytic crisis should be inquired.Intake of any medications viz. iron chelating agents should be asked.It is also important to ask whether her partner?s sickle cell status is known.History of recurrent infections like repeated respiratory or urinary trat infections should be asked.Vaccination against rubella and pneumococcus and whether penicillin prophylaxis is being taken should be checked. b)FBC to detect the severity of anemia and blood group,rhesus type and atypical antibodies should be done.Red cell folate,serum iron and serum ferritin levels are important.If the S.Ferritin levels are high suggestive of iron overload,echocardiography should be done to detect cardiomyopathy.HbS levels should be noted.Baseline renal and liver function tests and coagulation profile should be done.HIV,Hep B and C,VDRL and immunity to rubella should be checked.Paternal screening for sickle cell status will help in counseling.G-6PD deficiency screening is common in women with sickle cell ds. and it should be checked. c)Prepregnancy counseling should be a joint consultation with an obstetrician,hematologist and a genetic counselor.Contraception should be advised if the woman is severely anemic or is suffering from any complications.Lifestyle modifications will include cessation of smoking,alcohol intake and decrease in caffeine consumption.Iron chelating agents should be discontinued and penicillin prophylaxis continued.Vaccination against Rubella and pneumococcus should be given.Folic acid supplementation should be started.MSU to detect irinary tract infections should be done looked and treated.To treat anemia blood transfusion can be givenShe should be given an information leaflet,a card stating her sickle status and all emergency contact numbers. d)Sickle cell disease is an autosomal recessive disease.If her partner does not have sickle cell trait or disease,the child will not have sickle cell disease.If the partner has sickle cell disease then there is 100 % risk of the child having sickle cell disease.If the partner has sickle cell trait then there is a 50% risk of the baby having sickle cell disease.Written information will be given and genetic counseling will be offered.
		Posted by Hala T. Wed Feb 20, 2008 12:14 pm
a) I would ask her about any painful crises and its frequency. History of previous transfusion needs should be obtained due to its disadvantages of alloimmunisation and exposure to infection .History of splenomegaly and gallstone formation should be asked ,as both are secondary to red blood cell destruction. Painless haematuria may indicate renal infarction. History of pleuritic chest pain , cough and shortness of breath is suggestive of acute chest syndrome. History of leg ulcer and retinal disease should be elicited. History of prophylactic antibiotics as penicillin for previous infection should be asked. Enquiry about any chelating agents were used for iron overload and hydroxyurea treatment if it has been used in sickling disorders. I would ask about her obstetric history ,especially miscarriage ,stillbirth if she is parous. History of subfertility and delayed puberty should be enquired. b) Haematological assessment includes FBC ,reticulocyte index , serum ferrtin levels , serum iron and red cell folate should be checked. Screening for blood-borne infections as HIV , Hepatitis B and C should be done . Serology testing for syphilis should be performed. Urea , serum electrolytes ,creatinine and liver function tests should be done . MSU for culture and sensitivity to detect and prevent the complications. Screening for co-existent Glucose-6-phosphate dehydrogenase (G6PD) deficiency as there is high incidence in such patient .Opportunistic screening for rubella immunity should be performed. c)Maintaining of contraception and postponing of the pregnancy until the disease status has been optimized .This is of great importance to minimize the morbidity and mortality for both mother and baby.Partner screening ,offering genetic counseling will give accurate estimate of the risk of an affected child. Patient education and counseling about the severity of the condition and strategies to minimize these risk.Therefore the importance of avoiding the factors which are likely to precipitate the crisis such as dehydration , cold and avoidance traveling to high altitude . Penicillin prophylaxis affords protecting against pneumococcal septicaemia because patient with sickle cell disease often have a non-functioning spleen. Increasing the dose of folic acid to 5 mg daily to reduce the risk of folate deficiency due to ineffective erythropoiesis. Peumococcal vaccination is important in preventing some strains of pneumococci. Hepatitis B vaccine if she is Hep. B negative and Rubella vaccine if she is not immune can be given to prevent the risk of infection . Renal function assessment and referral to nephrologist if needed . Therapy review in consultation with haematiologist , physician , neonatologist is appropriate to avoid the risk of teratogenicity . A haemoglobinopathy card including the details of the patient\'s condition should be given to her , as she should be known to the haemtologist at any appointment. Prepregnancy counseling is optimal when the severity of the sickle cell disease assessed and pregnancy management planned to be in a high risk pregnancy unit. d) I would tell her that the sickle cell disease is an autosomal recessive condition.If the partner is unaffected , all the children will be carriers . If the partner is a carrier (HbAS) trait , half of the children will be affected and half will be carriers. If he has sickle cell disease ,all the children will be affected. This should be supported by referral to the Clinical Geneticist , written information leaflet and contact with Sickle Cell Support Groups.
		Posted by Shatha A. Wed Feb 20, 2008 03:53 pm
a) I would like to ask about her parity , past obstetrical history , and any complications occured in her previous pregnancies and deliveries including previous sickling crises and severity of crises if she needs anticoagulants or not? .I will ask about her children and if any one of them with sickle cell disease? I would like to ask about consanguinity with her partner and if he suffer from sickle cell disease or not . Medical history of renal disease , hypertension, diabetes musculoskeletal disease .Previous surgical history including splenictomy . History of blood transfusion and any complications , Social history regarding smoking , alcohol and drug abuse. b) FBC , blood group and antibodies as previous blood transfusions may cause senstization , Hb elestrophoresis to exclude other haemoglobinopathies could be associated with sickle cell disease. In presence of anaemia , serum ferittin level , red cell folate level and serum B12 levels as usually there is folic acid deficiency due to red cell distraction and haymolysis , MSU for protein or red cell casts as frequent crisis may cause renal insult and to exclude bacteruria and urin culture if infection present .Renal function test to evaluate the renal system. Partner should be tested for sickle cell disease or triat if he did not investigated before . screening for hepatitis B , C and HIV , Rubella screening . c) Should be under care of Multidisplinary team including obstetrician,genitics, haematologist ,and physician . Folic acid 5 mg given 12 weeks before conception , anaemia should be treated before pregnancy, in case of presence of symptomatic anaemia blood transfusion may be indicated .Asymptomatic bacteruria or any infection should be treated promptly to decrease crisis frequency ,this is done by use of penicillin . thrmboprophylasis may be needed, information about life style changes like stop smoking alcohol, dietary advice to improve her general condition ,early treatment of infection . if she is rubella non immune ,immunisation should be given . Information leaflet provided d) Sickle cell disease is autosomal recessive there is a risk all her children to be carrier if her partner is not affected but if her partner is with sickle cell disease there is 50 % chance of being affected with sickle cell disease ,prenatal diagnosis is indicated .
		Posted by SUDHA N. Thu Feb 21, 2008 06:47 am
a)Sickle cell disease is associated with increased maternal and perinatal mortality and morbidity.The number of blood transfusions that she has had and the duration since the last transfusion.Details about the hospital admissions and if she had any painful crisis, chest syndrome, cerebrovascular accidents or thromboembolism should be enquired.Obstetric history should be obtained about the number of miscarriages or preterm deliveries and the outcome.If she is on any medication at present like warfarin,iron chelating drugs or any antihypertensives,like ACE inhibitors. b)Partner\'s carrier status for sickle cell disease if not known.Full blood count , HbSlevels HbFlevels.Serum ferritin levels,and if these are high then exclude cardiomyopathy by performing echocardiogram.Baseline renal function and liver function tests.Blood group antibodies are multiple in these patients.Her HIV, HepatitisB &C status should be checked.Rubella immunity should be checked. c)Serum ferritin levels if high, she will need iron chelation prior to pregnancy.HIV, Hepatitis status if known staff can take precautions at the time of delivery and Paediatricians will be informed, so that the neonate can be treated.If she is not immune for rubella,she could be vaccinated and asked to continue with the contraception for 3months.Folic acid 5mg should be started to decrease her risk of neural tube defects. She should be educated on the effect of Ace inhibitors, if she is onthes and her medication should be changed as soon as she is pregnant.She should be given advise regarding smoking,alcohol intake and the need to have her BMI between 20-24.Hb F levels if high the outcome of pregnancy is good. Her Partner\'s carrier status should be known to offer her prenatal diagnosis if the risk for the the child to have sickle cell disease is high. d)I will tell her that if her husband\'s screening is negative for sickle cell then all their chidren will be carriers -they will not have the disease.If the partner has trait then the chance of having children with the disease is 50% and 50% will be carriers.If he has sickle disease then all their chidren will be like them with sickle cell disease.
		Posted by yossef ibrahim E. Fri Feb 22, 2008 03:45 am
I would ask about the frequency and management of crises outside of pregnancy.Th patient transfusion history and red cell antibody values should be documented.Discussion of hydroxyurea is important.contraceptive history should be taken.I would ask about the partner haemoglobinopathy status. Laboratory evaluation should include a Fbc,Hb electrophoresis,reticulocytic count,ferritin level,U&E,liver functions tests,blood typing,red cell antibody screen,blood tests for hep A,B,C,HIVand rubella antibody status .Urine dipstick and culture. The woman should be seen in a joint clinic by an obstetrician and a haematologist.Iron chelation should be stopped prior to conception. If there is iron overload ,an echocardiography should be done to exclude cardiomyopathy.Folic acid would be given.If the disease is not well controlled ,i would maintain contraception.I would maintain optimal Hb.Dehydration and exposure to cold should be avoided. SCD is an autosomal recessive disease .Iwould tell the woman that if her partner is normal ,her child will not be affected but he will be a carrier and may have symptoms on exposure to stress.If her partner is a carrier ,then her child has equal possibility of being a carrier or have the disease.If her partner has SCD,then her child will have SCD.I would give her written information.
		Posted by yossef ibrahim E. Fri Feb 22, 2008 06:30 pm
My answer has been missed. please for correction. Your answer has not been missed - it has not been marked yet. It was only posted yesterday and answers are marked on a first-come-first-served basis
		Posted by rachael L. Fri Feb 22, 2008 10:06 pm
a) I would obtain information about history of crises, type, frequency and precipitating factors such as infection. Enquiries would be made about previous blood transfusions. I would ask about whether she is on hydroxyurea and if she is taking prophylactic penicillin or folic acid. In addition I will find out if she has had pneumococcal, hepatitis B or rubella vaccinations. I will enquire whether her partner has been screened for sickle cell disease. Her previous obstetric history would be noted, in particular, history of miscarriage, preterm birth and stillbirth and whether any crises complicated her pregnancy. I will note any other concomitant medical problems. b) I would request a full blood count and antibody screen; renal function and liver function test and screen for rubella antibodies. Her partner should have haemoglobin electrophoresis if his status is not known. c) I would advise her that she should not become pregnant until disease control is optimised. She should continue or start contraception until this is achieved. I would refer her to a Haematologist and for genetic counselling. If she has had good control on hydroxyurea (or her partner is on this medication) then I would advise that this be discontinued and she continue contraception for at least 6 months afterward as there is theoretical risk of teratogenicity. I would advise that she avoid known triggers for her crises and situations that can cause dehydration or hypoxia such as extreme sport or air travel and seek prompt treatment for infection. She should continue or start folic acid, prophylactic penicillin and hepatitis B, pneumococcal and rubella vaccines should be given if required. d) If her partner is unaffected then her children will be carriers. If her partner is a carrier then there is a 1 in 2 risk of her child being affected and a 1 in 2 risk of being a carrier. If her partner is affected then her child will be affected
		Posted by Gulfreen J. Sat Feb 23, 2008 07:26 pm
A) I would take history with an aims to assess the status of her sickle cell disease and any inter current medical disorder. In order to evaluate the risks involved with pregnancy, a detailed history of the variant of sickle cell disease (with review of the electrophoresis report), frequency and pattern of crisis and any treatment taken e.g. blood transfusions (associated with risk of red cell antibodies) or use of hdroxyurea , a new drug but contraindicated in pregnancy. Any signs or symptoms of multisystem involvement such as nephropathy (haumauria) or H/O urinary tract infection (UTI), bone pains, cardiac failure (chest pain, breathlessness) or chest infections (tachypnoea, pluritie chest pain) would be taken. Use of prophylactic antibiotics, immunizations and contraception would be asked. Past obstetrical history is relevant . B) Full blood count, serum ferritin level, Reticulocyte count to evaluate her hematology status and would be discussed with the hematologist. Liver and renal function tests would be done. ABO blood group and Rhesus factor as well as antibody screening would be done (esp. if H/O blood transfusions), screening for hepatitis B and C and Human inhume deficiency virus infection (HIV) is essential. Partners screening for sickle cell disease/ trait would be done, if positive referral for genetic counseling would be offered to evaluate risk of transmission to offsprings. Special investigations in case of any multisystem complications would be advised. C) Patient?s status of healthy and sickle cell disease crisis would be evaluated. She would be advised to deter pregnancy till her condition stabilizes and her disease and multisystem complications are under control. Effective contraceptive advised would be given to avoid unplanned pregnancy. Her immunization status would be assessed and vaccination for hepatitis B and pneumococcal infection would be advised. Tab Folic acid (1-5 mg) would be started 3 months pre-conceptually. Screening of partner for sickle cell trait/disorder would be done if found, referral for prenatal diagnosis counseling arranged. Patient would be educated about risks of pregnancy and strategies to minimize these. D) The risk of her offspring inheriting the disease would depend on her partners result screening for sickle cell trait disease. As she has sickle cell disease she would be homozygous (Hbss) for sickle cell disease and if her partner is carrier, these would be a 50% chance of the offspring being a carrier and 50% chance of having disease. If the partner also has sickle cell disease (Hbss) then all her offspring would be affected. If the partner is normal all her children would be carriers. She would be offered prenatal screening counseling by geneticist to evaluate the risks and explain these to the couple.
		Posted by Dr seema jain J. Tue Feb 26, 2008 01:38 am
I?ll explain the couple that PCOS is predominantly a condition of male androgen excess and one of the commonest causes of anovulatory infertility.. It is a familial condition influenced by environmental factors. Apart from subfertility, the hyperandrogenaemia can lead to symptoms like acne, hirsutism,menstrual irregularity & hairloss. Obesity is commonly associated with it. Hyperinsulinemia is considered to be the central factor in its pathogenesis. Spontaneous pregnancy is known to occur in women with PCOS though women with PCOS may face pregnancy related complications like miscarriage, pregnancy induced hypertension and gestational diabetes. I will reassure them that effective treatment for anovulation is available and with treatment the chances of success are high (almost 60 ? 70%). The longterm complication of PCOS include diabetes mellitus because of insulin resistance.Hyperlipidemia and abnormal glucose metabolism predispose these women to cardiovascular disease and hypertension.Endometrial cancer because of unopposed estrogen stimulation of endometrium ican occur. I will provide them with an information leaflet and guide them to support groups. It is not a curable disease but most of its symptoms respond well to drug therapy and it is important to treat it in view of its long term implications even if the woman is not bothered by the symptoms. Spontaneous pregnancy can occur and so the couple can be offered expectant management. Lifestyle changes (exercise & weight loss) form the mainstay of therapy. Weight loss 5 ? 10% can lead to ovulatory cycles in 40-50% cases. Ovulation induction with clomiphene citrate (50 mg D3 ? D7) can lead to ovulation in about 60-70% cases. A trial of upto 6 cycles can be given if ovulation occurs. Risk of multiple pregnancy (10 ? 20%) should be explained. The dose required for ovulation should not exceed 150-200 mg/day and if ovulation occurs at a lower dose,there is no need to increase the dose.. If there is no pregnancy following six ovulatory cycles with clomiphene citrate, further 3-6 cycles with IUI with clomiphene can be offered. Addition of insulin sensitiser (metformin) to clomiphene has shown to improve the pregnancy rates and is advocated when pregnancy does not occur with use of clomiphene.Clomiphene resistant cases or in women whom pregnancy has not occurred following use of clomiphene as above, the second line of therapy would be either use of gonadotropins or laparoscopic ovarian drilling. Ovulation induction with gonadotropin (preferable with FSH instead of HMG) is associated with almost 40-50% success rate but it also carries the risk of multiple pregnancy (20-30%) and OHSS. Th lowest possible dose of the gonadotropins should be used to minimise the risk of OHSS and multiple pregnancy. Laparoscopic ovarian drilling results in ovulatory cycles in upto 60-70% cases and the advantage is that the risk of OHSS and multiple pregnancy is minimised.Follicular studies may not be required. The risks inherent with laparoscopic procedure of visceral and vascular injury, formation of adhesions and decrease in ovarian reserve over a couple of years are its disadvantages. IVF can be offered if all the above treatment modalities fail. GnRH antagonist to prevent premature LH surge has shown promising results in PCOS women undergoing IVF. The couple should be offered the option of adoption if no pregnancy results with these measures.Under all circumstances the wishes of the couple should be known and they should be informed about all the possible options.Psychological counselling should be encouraged and referral to support groups done.