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ESSAY 229 - HAEMOPHILIA

Posted by Freha Z.
I would tell her that Haemophillia A is a x- linked condition associated with deficiency of factor V111. The females are the carriers of disease and males are effected. She should know that her risk of female baby being a career is 50% and 50% of her male fetuses are effected. Haemophillia A is characterised by excessive bleeding from wounds due to defective coagulation. Risks to the baby during delivery is intracranial haemorrhage especially in case of instrumental delivery.
The modern management of Haemophillia has improved survival rates in children but there are small risks associated with blood trasfusion such as infection with HIV & Hepatitis. There is no long term effect on intellectual ability.
She should be told that it is important to know that fetus is effected or not even if she doenst want a termination in case of an effected fetus in order to plan antenatal and future care of the baby. Prenatal diagnostic tests are Chorionic villus sampling performed at 10 weeks which carries a risk of 2% of miscarriage above background. Amniocentesis is performed at 16 weeks with miscarrige rates of 1% above ground. Cordocentesis is another method with higher miscarriage rates. All these methods are associated with risk of haemorrhage. Noninvasive method is determination of fetal sex on ultrasound which can determine with reasonable sensitivity but can provide false results. All the discussion should be baked up by written information. She should be given addresses of support groups.
(b) Her management should be shared by Haematologist, Obstetrician, Neonatologist and anaesthetist. Vaginal delivery should be the aim, caesarean section reserved for obstetrics indications. Epidural analgesia should be given in consultation with anaesthetist. Invasive monitering via fetal scalp electrodes, fetal blood sampling and instrumental delivery should be avoided.
Active management of third of labour should be done because of the risk of postpartum of haemorrhage. FactorV111 transfusion can be given in case of severe haemorrhage.
Neonatologist should present at time of delivery. Cord blood should be taken especially if fetal haemophillia status unknown.
Injectable Vit K should be avoided and orally given instead. Positive babies should be registered with Haemophillia centre.
Postnatally breast feeding should be encouraged, contraception should be advised risks of recurrence discussed.
Posted by Misbah W.

A 30 year old nulliparous woman is known to be haemophilia A carrier. She attends the antenatal clinic at 10 weeks gestation. (a) What will you tell her about the risks to her fetus? [10 marks]. (b) She presents in spontaneous labour at 39 weeks gestation. Justify your management [10 marks].

A] Heamophilia A is the most common inherited X-linked recessive bleeding disorder Most women are likely obligate carrier and usually have sufficient amount of factor-Vlll. But these women have 50% chance of giving birth to a heamophilic child if it is a male and a carrier if it is a female (provided the father is normal). Severely affected males are at risk of bleeding [intracranial haemorrhage] at the time of delivery and fetal morbidity and mortality associated with it. After birth as a child he will be prone to excessive bleeding after trauma and surgery and may need repeated blood transfusion and morbidity associated with that like blood reaction and viral infections.. With modern blood transfusion services they are coping better with life.
Women should have genetic counseling and should offer invasive and non-invasive prenatal test to diagnose fetal gender .Father status should be checked. Chorionic villus sampling can be done now but risk of miscarriage is about 2%.Chance of bleeding is also there.
Alternatively amniocentesis can be used but risk of miscarriage is.5-1%.Gender preslection is possible through IVF and pre-implantation genetic diagnosis but is very expensive and not offered by NHS for this reason. Non-invasive test is karotyping on fetal cell taken from maternal blood, a simple and new method .Ultrasonographic diagnosis about fetal sex is another non-invasive method. Knowledge of fetal gender will help to reduce maternal and obstetrician anxiety and unnecessary caesarean section.


B] Labour should be managed with close collaboration with local haemophilia centre so that interpretation of blood tests and arrangement of prophylactic and replacement treatment is available when required. Fetal gender should be asked if known. In case of female fetus no problems are anticipated. But if gender is unknown or male neonatologist should be informed. Maternal blood sample should be send for full blood count, coagulation screening, factor Vlll assay and saving serum for cross-matching when needed. If factor Vlll is less than 50%, treatment with recombinant factor Vlll should be considered. An intravenous line should be established. Epidural anesthesia may be used if coagulation factors have been corrected with understanding of anesthetist. Invasive fetal monitoring techniques like use fetal scalp electrode and foetal scalp blood sampling should be avoided due to serious scalp haemorrhage including abrasion. Use of vacuum extraction may increase the risk of cephalhematoma, subgaleal hemorrhage and intracranial haemorrhage.Therefore, it is recommended that delivery should be achieved by the least traumatic method prolonged labour, specially prolonged second stage should be avoided and early recourse to LSCS should be considered. When head is deeply engaged low forceps can be used. Third stage of labour should be monitored closely due to post partum haemorrhage. The risk of maternal haemorrhage can be avoided by minimising maternal genital and perineal trauma at delivery and prophylactic treatment with desmopressin or clotting factor concentrate when appropriate. At the time of delivery neonetologist should be informed and cord blood sample should be sent to haemophilia laboratory. Intramuscular injection frequently cause bleeding and should be avoided. Vitamin K should be given orally. Parent should be given a follow up counseling and affected babies should be registered with and viewed regularly with haemophilia centre.
Posted by Parveen  Q.
Iwill tell her that hemophilia is the most common, severe inherited bleeding disorder, due to clotting factor8 deficiency. If the fetus is male, 50%will be normal, and 50%will be affecetd, and 50%of her female fetus will be carriers. In the affected individuals, it can cause significant morbitity and mortality. There are a wide range of manifestations like easy bruising, spontaneous or post traumatic or post operative bleeding and intracaranial hemorrhage. Fetal sex determination is crucial in planning for the delivery, as it will assit for intrapartum care .I will tell her about the various options like non invasive and invasive means of determining fetal sex. Invasive methods allow definitive diagnosis but have procedure related fetal risk of fetal loss of 0.5 to 1%for amniocentesis, and 1-2%for CVS and 1.4%for cordocentesis. Non invasive method like USS will avoid the invasive testing in female fetus.

(b) she will be managed by a multidisciplinary team of consultant obstetrician, anaesthetist, hematologist in close liasion with the hemophilia center. Resources for laboratory testing and clotting factor treatment should be readily available.Blood samples taken for fbc, group, and save, coagulation screen. Clotting factor assay is not done in acute settings, butplanning for delivery is done on the basis of third trimester levels. Prophylactic treatment is required if levels are low . Aim is to rise the level above 50 maintain it throughout labour and delivery, and for atleast 3days after vaginal delivery and 5days aftercasarean section. Intrapartum analgesia should be avoided. Use of regional anaesthesia is controversial due to the potential risk of epidural or spinal hemorrhage, hematoma leading to permanent neurological damage. If the coagulation screen is normal and clotting factor level above 50iu/dl, epidural is not contraindicated. The choice of anaesthesia is made jointly by the anaesthetist, obstetrician and the patient. CTG monitoring for the fetus done. Invasive intrapartum monitoring by fetal scalp electrode and fetal blood sampling and instrumental deliveries should be avoided as serious bleeding from the fetal head can occur. Caesarean section does not eliminate the risk of bleeding. prolonged labour should be avoided and least traumatic methods should be considered. With the low foetal head, forceps delivery can be less traumatic ,should be performed by experienced obstetrician. There is increase risk of PPH , active mangement of third stage of labour undertaken. There is increase risk of hemorrhagic complications after delivery due to fall in clotting factors. If the levels are below 50iu/dl, prophylactic treament with desmopressin or clotting factor is appropriate . Care take to minimise perieal trauma to avoid trumatic PPH. For the fetus, cord blood sample taken to assess coagulation status and clotting factor level. Intramuscular injections should be avoided and vitamin k should be given orally.For the mother, there is low risk of VTE in hemophilia , but thromboprophylaxis should considered if additional risk factors and clotting factor concentrate has been used. Dehydration should be avoided and early mobilisation encouraged. Also, they experience prolonged secondary PPH. COCP can be used in non breast feeding women and in acute episode tranexamic acid can be given.
Posted by neera  B.
a)Hemophilia is a X linked recessive disorder. If the father is normal, half of her sons are at risk of being affected by Hemophilia A, while half of her daughters will be carriers. Affected people have decreased level of clotting factor VIII , so have tendency of excessive bleeding and may need repeated transfusions. Prenatal diagnosis will be offered to decrease the risk of affected child. If mutation in the family is known, PCR on chorionic villos sampling between 10- 13 wks or amniocentesis at 16 wks can help to pick up the problem . In case the fetus is affected, termination of pregnancy will be offered . Procedure related miscarriage rate of 1-2 % with CVS and 1 % with amniocentesis will be discussed.
If the genetic mutation is not known, fetal sex can be determined by ultrasound at 13 to 14 weeks. If the fetus is a female, the lady will be reassured . But male fetus has 50 % chance of being affected with hemophilia A. So, direct factor VIII levels can be estimated in cord blood at 20 wks. by cordocentesis. This carries 2 % risk of procedure related miscarriage.
Affected fetus is also at risk of bleeding during invasive procedures , internal monitoring and at delivery.
Some carriers have reduced factor VIII levels due to Lyonization . If this women has received transfusions , she could be a carrier of blood borne infections like hepatitis B , C and HIV . So her fetus would be at risk of acquiring these infections.
Written information will be provided.
b)Labor is not a high risk time for mother because there is a physiological rise in factor VIII level during pregnancy. However the level soon return to normal after delivery , so a carrier with decreased factor VIII level is prone to secondary postpartum hemorrhage.
Multidisciplinary team involving consultant obstetrician, senior anaesthetist, neonatologist and hematologist should look after her. There should be liason with local hemophilia centre . Clear communication between the different members of MDT is essential. Plan of management made during pregnancy is followed. Vaginal delivery is allowed . Cesarian is only for obstetric indications. If maternal factor VIII is normal , epidural analgesia or anaesthesia can be given. If the fetus is female or unaffected male by prenatal diagnosis, labour does not entail increase risk to the fetus. But if she refused prenatal diagnosis or fetus is affected, internal monitoring with scalp electrodes and scalp pH should not be done because of risk of excessive blood loss. Instrumental delivery should be avoided but if needed , forceps is preferred over ventouse because ventouse can be associated with massive cephalhematoma and intracranial bleeds in an affected fetus. Cord blood should be taken for factor VIII levels and recombinant factor VIII is given to the newborn if his factor VIII level is low. Careful watch for postpartum hemorrhage should be kept. Active management of 3rd stage is done to avoid PPH.
DDAVP and recombinant factor VIII or tranexamic acid should be offered to the mother if her factor VIII levels are low and she bleeds excessively. 24 hour helpline numbers are provided because she may have secondary PPH after discharge from hospital.
Posted by GBENGA O.
a) Haemophilia is acommon hereditory haematological condition.It is caused by the deficiency of factor VIII levels and inheredited as x-linked recessive,thence females are obligate carriers.In an extremely rare worst case scenario,a woman could be affected if her mother married an affected father.
The risk to the fetus depends largely on its sex.50% of her sons would be affected and 50% of her daughters would be carriers.Consequent upon this, the affected male would be at an increased risk of inracranial/intraventricular haemorrhage,cephahaematoma during delivery and 1-2% of miscarriage during CVS.The mother should therefore be made aware of these risks,and CVS should only be performed after a thorough counselling.It is important to determine the baby\'s sex,not so much so the parents ,but for the obstetricians.This can be performed at 16-20wks gestation.Information leaflets would be provided and attitude of her towards an affected fetus guaged.

b) I will first introduce myself if I have not met her antenatally. It must be recognised that this a high risk pregnancy entering one of its delicate stages,I would therefore inform the senior obstetrician,anaesthetist,haematologist,laboratory and paediatricain of the admission.I will review her antenatal notes specifically to know the palns for delivery,sex of the fetus(if known),latest facto VIII levels and other coagulation profile-APPT,PT.A factor VIII level of 0.4iu/L and 0.5iu/L will respectively suffice for vaginal and caesarian section delievery.I will also find out whether she had a trial of DDAPV antenatally in case she needs it to manage PPH.I will the examine her to confirm labour and presentation.If non-cephalic,then she would be counselled and offered caesarian section.Iv access is gained and bloods sent for FBC,coagualtion profiles,factor VIII,group and save..There would be a continous monitoring of the baby and she can have regional anagesia if her caogulation profile are normal.I will also avoid FBS,fatal scalp electrode and ARM.Th elatter could be performed if at all indicated.There is no contraindication to oxytocin augmentation if needed.In the second stage,ventouse delivery is contraindiacted because of cephalhaematoma,but a simple lift out by forceps can be undertaken.Any anticiapted difficult 2nd stage should be managed by ceasarian section.Episiotomy/tears should be should promptly repaired and oxytocin infusion commenced for the next 4-6 hours.Cord blood is taken to determine baby\'s fcator VIII level,and im injection including vitamin K should be avoided.This can be given orally instead.
Postnatally,mother\'s factor VIII levels should be determined as it falls very rapidly in the pueperium and advice sought from the haematologist.If she had c/section,thromboprophilaxis can be given as soon as haemostatic status is secured.She should be counselled for contraception and the need for pre-pregnancy counselling before embarking on another preganancy-this may involve pre-natal diagnosis.
Posted by TAIWO NURENI Y.
She will be informed that risks to her fetus depends on the sex of the baby.As a carrier herself she has 50% chance of having affected male baby and 50% chance of a carrier if baby is female.The main risk for the baby is of hamorrhage because of deficiency of factor 8,that plays a vital role in blood coagulation.Traumatic delivery of baby could provoke bleeding and in documented cases intracranial haemorrhage is cause of fatality.Spontaneous fetal and neonatal bleeding is unusual even in severe haemophiliac but documented.It is possible to diagnose prenatally by conducting chorionic villus sampling or Amniocentesis but miscarriage rate are 2-3% and 1% respectively.Sex could be determined by scan but not 100% accurate.This might offer reassurance and reduce anxiety if female fetus.
b)The usual goal is uncomplicated vagina delivery,So experience obstetrician need to conduct the delivery.Fetal scalp electrode,Fetal blood sampling,ventouse and traumatic forceps delivery need to be avoided.Caesarian section will be a better option in a situation where difficult delivery is anticipated.However, lift out forceps delivery could be a better option to a difficult 2nd stage c/section in some situation.Epidural should be avoided especially if the woman has low factor 8 because of risk of haematoma.Parenteral analgesia should be subcutanous or intravenous,Intramuscular injection should be avoided.Non steroidal inflammatory drugs should also not be given post natally as it inhibits platelet function.Cord blood should be taken at birth to determine haemophillia status of baby.Prophylactic vit K should be given orally and all Intramuscular injection avoided.Immunisation should be subcutanous or intradermal.Follow up should be arranged with haematologist or local haemophilliac unit.
Posted by Sarwat F.
Haemophilia is a sex linked recessive disease. The risk of transmission is 50 % and the risk of baby being affected depends on the sex of baby. I will tell her that 50% of male offsprings will be affected and 50% of female offsprings will be a carrier. Prenatal diagnostic techniques help in identifying if the affected genes are transmitted to the fetus. These include amniocentesis which is done at 16 weeks and chorionic villous sampling which can be done between 11 to 14 weeks gestation. However these procedures are not without risks of complications. There is a risk of miscarriage of about 1% with amniocentesis and 1 to 2% with chorionic villous sampling over and above the background risk. There is also a risk of placental mosaicism with CVS. As with amniocentesis other complications include infection limb reduction defects and spontaneous rupture of membranes. Other methods of prenatal diagnosis include cordocentesis and detailed ultrasound examination to determine the sex of the fetus but it is not 100% accurate. DNA sampling is required. In case DNA analysis shows baby is affected termination of pregnancy can be offered.
If parents want to continue with pregnancy there wishes are respected.
When she presents in spontaneous labour she will be admitted to delivery suite and a partogram will be maintained. In case a mother is a carrier of haemophilia there is arisk of bleeding in the third stage of labour so a wide bore venflon is inserted and blood is sent for group and crossmatch. Maternal clotting status should be determined. Normal delivery can be allowed in the absence of any obstetric indication for caesarean section. Epidural anesthesia can be given for pain relief if maternal clotting status is normal in consultation with anaesthetist. Artificial rupture of membranes is done as per unit protocol and syntocinon augmentation will be done if needed for slow progress of labour. Fetal sclp electrode and fetal scalp sampling is avoided for the risk of bleeding. Vaccum delivery is avoided. Simple lifts out forceps are permissible. Third stage of labour is managed actively with syntocinon. Cord blood is sent for clotting screen. A paediatrician should be present at the time of delivery. Baby is examined for any signs of intracranial haemorrhages and neonatal vitamin k injections are avoided until diagnosis of haemophilia is excluded.
Posted by Randa E.
Haemophilia A is an X-linked recessive disorder resulting from deficiencies of factor VIII. Men inherit the disorder and women are affected as carriers. The disease can cause a significant morbidity and mortality. The disease is life-long. She should be counselled that she has 50% chance of having a male fetus that is affected and a 50% chance of having a female fetus that is also a carrier. The implication of the disease should be clearly explained. Affected male children are at risk of spontaneous bleeds into muscles and bones and require frequent clotting factor replacement. She should know that there are options which are available for pre-natal diagnosis. Invasive methods such as CVS and amniocentesis,allow definitive diagnosis but are associated with a risk of procedure related fetal loss. CVS is the method most widely used. It is performed at 11-14 weeks of gestation under u/s guidance. It has the advantage of earlier diagnosis and thus early termination of an affected fetus if desired. Amniocentesis, is performed at 15-20 weeks gestation. Both are associated with a 1% risk of miscarriage. Cordocentesis(u/s guided fetal blood sampling), is another option rarely used today. It is performed at 18-20 weeks of gestation and its related fetal loss is around 1.4%. If this is declined then she can be offered an u/s scan to determine the sex of the fetus. This is very useful even if she doesn?t want to know the sex as it has management implications. Its accuracy is around 70% at 11weeks increasing to 100% at 13 weeks. It has the added advantage of avoiding invasive perinatal testing in female pregnancies. Another non-invasive method is determining sex is the analysis of free fetal DNA in maternal circulation. During counselling it is important to determine the mother?s attitude towards an affected child and whether she would consider TOP or continuation of the pregnancy. Her decision should be respected and written information including support groups e.g. UK Haemophilia Society, should be provided.
b) Multidisciplinary care involving a senior obstetrician, haematologist, neanatologist, experienced anaesthesist and senior midwife is essential in the management of this patient during labour. Women with inherited bleeding disorders are at increased risk of bleeding complications during and after delivery, especially if their factors levels are subnormal. Blood samples should be taken for group and save, FBC and coagulation screen. If she has low factor levels then IV access should be established and prophylactic treatment given to cover labour and delivery. The aim of treatment is to raise factor VIII levels to above.50iu/dl for vaginal delivery or C/S if indicated. Recombinant products, if available, should be the choice and should be provided under the supervision of haematologist. Factor VIII concentrate and Desmopressin are other options. Regional anaesthesia is only considered after careful evaluation and discussion with the anaesthesist and if the clotting factors are within normal limits. If the fetus is affected/undetermined invasive intrapartum monitoring e.g. fetal scalp electrode or FBS, and instrumental deliveries e.g ventouse or rotational forceps, should be avoided.The aim should be a vaginal delivery. Prolonged labour should be avoided and early recourse to C/S should be considered to minimize the risk if neonatal bleeding. Cord blood samples should be collected. IM injections should be avoided in neonates known to be at risk until diagnosis is excluded. Clotting factor replacement is considered immediately after delivery if clotting defect is present or bleeding occurs. Therapy is continued 3-4 days after vaginal delivery or 4-5 days post C/S. It has to be ensured that there are no clotting defects before epidural catheter is removed. Early mobilization encouraged and dehydration should be avoided to minimize the risk of VTE.
Posted by Shatha A.
(a)
Haemophilia A is an X linked recessive disorder. Her male foetus will have 50% chance of having the disease weather her partner is affected or not.
However; if her partner is affected then her female foetus will have 50% chance of being affected and 50% chance of being a carrier.
Full explanation of the disease extent and implication on the life of her unborn foetus should be discussed and the woman view regarding continuation of pregnancy or termination should be taken into consideration.
The woman should be offered prenatal diagnosis by sex determination and DNA based diagnosis by either chorionic villous sampling in the first trimester or amniocentesis in the second trimester. The risk of bleeding with these procedures should be discussed. If prenatal diagnosis declined, then sex determination by ultrasound scan at 16-20 weeks should be done, however; parents may choose not to be informed about the sex of their unborn child, but it?s important for obstetrical management during labour and delivery.

(b)
The patient is a carrier of haemophilia A, they usually have 50% of factor VIII and usually they are asymptomatic but due to lyonisation some female may have lower level and they are at risk of bleeding specially post partum when factor VIII level fall down rapidly. Therefore the patient should have an intravenous access with blood test for full blood count, coagulation screen and factor VIII level with blood for group and save. The case should be managed in conjunction with haematologist. Pain relief should be discussed and consultant anaesthetist should be informed. There is no contraindication for regional anaesthesia if there is no coagulation defect, otherwise it is contraindicated because of the risk of epidural haematoma.
Invasive monitoring in the form of foetal scalp electrode and foetal blood sampling should be avoided specially if the foetus is known to be affected or the situation is undetermined. Ventouse delivery is absolutely contraindicated to avoid the risk of intracranial bleeding. However; a simple lift out forceps is permissible.
The neonatal unit should be informed, and cord blood should be taken for neonatal diagnosis. Any intramuscular injection should be withheld until the diagnosis for haemophilia is excluded.
The patient should be monitored post partum because of the risk of post partum haemorrhage, and a prophylactic recombinant factor VIII should be given if there is coagulation defect or bleeding. This should continue for 3 days after vaginal delivery and 5 days after caesarean section. The use of recombinant factors is preferred to avoid risk of transmission of infection.
Posted by Parveen  Q.
Dear Dr.Paul
i am extremely sorry for the gross mistake, instead of typing intramuscular analgesia, i have typed intrapartum analgesia should be avoided. This emphasises the value of reading answers before posting, thanks again i am learning from my mistakes. please could you correct my answers for the polyhydramnios.
parveen.
Posted by SWATI M.
a) I will explain her that hemophilia A is a coagulation disorder - factor VIII deficiency.It is inherited as X linked recessive disorder. If the fetus is a female, there is 50 % of her being normal and 50% being carrier. Carrier status means they do not suffer from the condition but has tendency to bleed excessively if lyonisation occurs.Also carrier daughter can pass the disorder to the future generation.
If the fetus is a male ,there is 50 % chance of him being normal and 50 % being affected .Prenatal tests such as CVS can be performed now or amniocentesis after 15 weeks to detect affected fetus.Both are invasive tests and associated with 2% and 1% increased risk of miscarriage above background risk respectively. Fetal sex can be determined by ultrasonography which is non invasive.
Determination of affected pregnancy help prepare & manage during & after the delivery. Termination of pregnancy can be an option in affected pregnancy.
Person suffering from hemophilia has tendency to bleed excessively from the wounds and spontaneously into muscles, joints or has gastrointestinal bleeding. Heamorrhages can be life threatening. It can present as neonatal intracranial heamorrhage in severe cases.He will need frequent checks for factor VIII level. Treatment is in form of replacement of factor VIII or blood transfusions. With treatment there is small risk of transmitting blood born infections such as HBV, HIV which can be minimized by the use of recombinant factor. Bleeding in joints can lead to arthropathy, joint deformity and need treatment in form of physiotherapy or joint replacement. Near normal life expecntancy with the use recombinant factor VIII is possible.Patient and family education helps to prevent morbidity and mortality associated with acute bleeds.
All information should be backed up with written information.

b) Maternal risk is of PPH if factor levels are low and fetal risks are intracranial heamorrhage or excessive bleeding from invasive monitoring in an affected pregnancy.Review her antenatal records to determine fetal status. Unaffected pregnancy should be managed as normal labour.
Management in affected pregnancy should involve multidisciplinary team involving heamatologist, anaesthetist, neonatologist.Maternal blood should be sent for FBC, coagulation profile, group and save. Venous access should be obtained.Labour analgesia should be discussed with senior anaesthetist.Aim should be vaginal delivery and reserve caesarean section for obstetric indication. Avoid invasive monitoring such as fetal scalp electrode and scalp blood sampling. Avoid use of ventouse or forceps but simple lift out forceps can be used.Active management of third stage of labour should be done. Vigilence for PPH in postpartum period is kept.She may require replacement with factor VIII if haemorrhage or given prophylactically if factor levels are low, in liaison with heamatologist. Cord blood should be collected to confirm the disorder.Avoid use of IM injections and vitamin K should be given orally.
Counsel and provide appropriate support to parents of affected baby.Details of support group and heamophilia centre should be given. Register baby to heamophilia centre. At discharge letter to GP should be given with plan for immunization of baby and management of future pregnancy.Contraception should be discussed at discharge.
Posted by Abi T.
a)I will explain to her that Hemophilia is an X-linked bleeding disorder and that there\'s a 50% chance of her having a normal male fetus, 50% chance of affected male fetus and 50% chance of a carrier or unaffected female fetus. The majority of pregnancies even with an affected fetus progress normally.
Spontaneous hemorrhage is rare in the affected fetus. There have been reported cases of bleeding following traumatic deliveries but these can be treated with recombinant factor 8. Affected male fetuses can suffer easy bruising and bleeding and may require repeated clotting factor transfusions. The modern management of hemophilia has improved quality of life of many affected individuals.
I will emphasize the importance of determining fetal status as it will influence labour management,ie; invasive monitoring such as FBS and FSE and ventouse deliveries will be avoided in the affected fetus. Her mental attitude towards an affected fetus needs to be determined prior to any testing.
Non invasive methods avoid unneccesary invasive testing and inherent risk of fetal losses if fetus is found to be female.
Fetal sexing can be done via USS as early as 11 weeks gestation with an accuracy of 70.3% and increasing accuracy with advancing gestation. If it is a female fetus, no further testing needs to be done.
Free fetal DNA from maternal blood can also be used and quantitative PCR techniques demonstrate 100% sensitivity and specificity in detection of a male fetus.
Invasive methods allow for definitive diagnosis but associated with procedure related fetal losses. CVS is performed at 11-14 weeks gestation and carries a 2% risk of miscarriage above background risk. Amniocentesis is performed after 15 weeks gestation and carries a 1% miscarriage risk above background risk. Cordocentesis can be done after 18 weeks gestation for fetal clotting assay but this is reserved for those in whom the causative mutation is unknown or prior testing has been uninformative. The miscarriage rate is 1.4%.
Maternal wishes with regards to testing should be respected and the relevant information leaflets given prior to decision making. If the fetus is found to be a carrier or it is affected, contact details of Hemophilia support groups should be provided.
b)The labour should be managed in a multidisciplinary team comprising Haematologist or close liaison with a Hemophilia centre, obsterician, anaesthetist ,neonatologist and midwife. The antenatal notes should be reviewed for a care plan, latest Factor 8 levels and the fetal sex. If it is a female fetus or unaffected male fetus and maternal Factor 8 levels are normal, the labour should be managed as normal. However Factor 8 levels can drop to prepregnancy low levels postpartum, hence PPH should be anticipated. IV access should be obtained and blood sent for FBC, clotting factors and Group and save.
If maternal factor 8 levels are below 50 iu/dl, then blood should be cross matched. Recombinant factor 8 or DDAVP should be given with advice from the Haematologist. IM injections should be avoided. Adequate analgesia should be provided. Epidural analgesia is not recommended if levels are below 50iu/dl. The aim is for vaginal delivery and Caesarean section for usual obstetric reasons. If the fetus is affected or unknown status, then FBS and FSE should be avoided. Ventouse deliveries and forceps are contraindicated due to intracranial hemorrhage, but if the head is low and an outlet forceps can be used as this has lower mortality and morbidity than a second stage C/Section with a deeply engaged head.
THird stage should be managed actively with oxytocin infusion as there is a risk of PPH due to falling levels of Factor 8 postpartum.
Cord blood should be taken to determine factor 8 levels(unless hemophilia excluded). IM injection of Vit K to the neonate avoided until factor 8 levels are known. Oral VIT K is a safer route in an affected fetus or if status unknown.
Posted by Fahima A.
a) First of all I will explain her about the nature of haemophilia A that it is a X- linked recessive disease due to deficiency of clotting factor eight. An enquiry about partner is necessary to determine the risk of the fetus. If the father is normal 50% of the male fetus will suffer from the disease & 50% will be normal. If the fetus is female 50% of them will be a carrier of the disease & 50% will be normal. However if the father is haemophilic 50% of the female will suffer from the disease. The sufferer of haemophilia will have bleeding tendency. There will be increase haemorrhage after surgery or tooth extraction. The may have haemoarthrosis, hence joint & muscle pain. There will be increase need for blood transfusion & therefore is a risk of transmission of HIV hepatitis B, hepatitis C virus though it very rare due to appropriate screening. life expectancy is good in haemophiliacs due to improved care & there will be no neurological impairment.
Sex determination of the fetus is necessary for the management plan. It can be done reliably by ultrasound scan (around 20 weeks) though not 100% accurate. If the fetus is female reassurance can be given. I will ask the parents about the attitude towards male fetus as most of the couple continue pregnancy due to improved care. If the parents want to know the status of the fetus invasive testing is an option. But there is 1% risk of miscarriage in amniocentesis & 3% risk of miscarriage in CVS above the background risk. If fetus is affected termination of pregnancy should be offered. If parents want to continue pregnancy address of the support group should be given.
b) During labour early venous access is necessary as there is increased of haemorrhage of the mother especially in postpartum period. labour should be managed with a liaison with the haemophilia centre. Blood should be taken for FBC to see the platelet count , coagulation profile, group & save. Blood & fresh frozen plasma may be needed for transfusion should be kept ready after consultation with haematologist. Epidural analgesia is not contraindicated unless platelet count is below 80x 109 / L. If the fetus is haemophiliacs or the status unknown fetal blood sampling, fetal scalp electrode, instrumental delivery should be avoided. Mode of delivery is for obstetric reasons but decision of cesarean section is necessary in order to avoid difficult or traumatic delivery as it will cause neonatal bleeding & haematoma formation. Cord blood should be taken to check haemophilia status of the baby & neonatologist should be present at delivery. Baby should not be given intramuscular vitamin K injection due to haematoma formation. It shold be either orally or subcutaneously. Active management of 3rd stage is necessary to prevent postpartum haemorrhage . Mother should be given factor eight for 3-4 days if vaginal delivery & 5 days if cesarean section.
Posted by sailaja devi K.
I will tell her that Haemophilia A is a inherited bleeding disorder due to deficient in the clotting factor.She should know that it is a X-linked recessive disorder where male inherit & female are affected as carriers .A carrier women in each pregnancy has 50% chance of unaffected male fetus & 50% chance of affected male fetus.There is 50% of female fetus that is a carrier.
Prenatal diagnosis is an integral part of care because of severity of disorder in there male offsprings.Offer the women prenatal diagnostic procedures.Invasive prenatal procedures ,like chorionic villous sampling (CVS) & amniocentesis allows definitive diagnosis .Both detect the known mutation.CVS is done between 11-14 wks , is the most widely done test for prenatal diagnosis of haemophilias.Amniocentesis done between 15-18 wks of gestation .CVS & amniocentesis are associated with 1 % fetal loss rate.CVS allows for early diagnosis.Cordocentesis not routinely done ,but is an option where causative mutation cannot be identified.It is associated with fetal loss rate of 1.4 %.

If the women is not willing for invasive test ,explain noninvasive test to detect fetal sex.Ultrasound scan between 11-14 wks to determine sex based on assessment of fetal genital tubercle.This can be done easily & accurately by ultrasound.At 13 wks this is 100 % sensitive.This helps to avoid invasive test in female fetus if done in first trimester.As 50 % of male fetus are affected it helps in planning delivery.Another noninvasive test to detect fetal sex is analysis of fetal DNA from maternal blood.Using PCR it is 100 % sensitive & specific to detect fetal sex.This test is done under research setting & not done routinely.
Gender preselection is not possible expect with IVF & preimplantation diagnosis.
Preimplantation genetic diagnosis is a new technique ,uses IVF to create embryos .This method selects the unaffected embryos & transfer it .This method eliminates the difficult decision of whether or not to terminate the affected pregnancy.Consider the cost & stress with IVF.Evidence on its safety & efficacy is still required.

Explain the implications of affected child & carrier status.Determine the parents attitude towards affected child ,the option of termination of pregnancy/continuation of pregnancy.
Provide written information leaflets & document in case notes

b) Labour is critical to haemophilic women & her fetus as they are exposed to haemostatic challenges.Place of delivery planned in third trimester depending on clotting factor levels.Multidisciplinary care with obstetrician,anaesthetist,hematologist & midwife & decision about epidural analgesia to be made jointly in third trimester.It is recommended that if clotting factors are defective,plan the delivery in unit where necessary expertise in management of bleeding disorders ,resources for laboratory testing & clotting factor treatments are available.
Collect blood for group& save, blood count & clotting screen.Clotting factors should be done in third trimester ,not in emergency.If factors are low secure IV access ,prophylactic treatment to cover labour & delivery.The aim prophylactic treatment is to maintain F 8 above 50 iu/dl.The treatment should be under hematologist supervision.Recombinant factor 8 is better choice to avoid risk of viral transmission.Desmopressin increases plasma concentration of factor 8 from endogenous release ,avoids risk of viral transmission.Risk of fluid overload & hyponatreamia as it has antidiuretic effect .Restict fluid to 1-1.5 lts,avoid repeated use of desmopressin.It can be adminisrered via nasal or parenteral route.
Avoid intramuscular injections.Invasive monitoring like fetal blood sampling & instrumental delivery to be avoided in fetus with risk of inherited bleeding disorder as intracranial bleeding result from this procedures.Vaginal delivery is not contraindicated .Caesarean section will not eliminate the risk of serious neonatal bleeding complications .Delivery should be attended by experienced obstetrician.Avoid prolonged labour & deliver by least traumatic method.Early decision of caesarean section should be considered to minimize risk of neonatal bleeding complications.
Women is at risk of primary & secondary postpartum haemorrhage .Risk of haemorrhage is decreased by prophylactic treatment with desmopressin,clotting factor concentrate when appropriate.Prophylactic treatment aimed to maintain F 8 above 50iu/dl for 3 days after vaginal delivery & 5 days after caesarean section.Care should be taken to minimize genital tract trauma If haemorrhage occurs do not forget about obstetric causes.Assess women for risk of VTE,general measures taken to avoid dehydration & immobilization.
A cord blood collected from at risk neonate to assess to clotting status & clotting factors.Avoid intramuscular injection till reports arrive.Administer vit K orally, immunization to be administered via subdermal or intradermal route.
Posted by Shyamaly S.
A) Haemophilia A is a disease causing a predisposition to bleeding or bruising due to a deficiency in factor 8. It is an X linked recessive genetic condition. This means that assuming that her partner is unaffected, if she has male children, half will be affected, half will not; and if she has female children half will be carriers like herself and the remaining half will neither be affected nor carrier. It is possible that daughters may exhibit some symptoms of Haemophilia where some of the X chromosomes are spontaneously ?switched off? (2% risk).
The life expectancy and quality of life for Haemophilia has increased due to improvements in care and recombinant factor 8 use, so this is no longer an indication for TOP. Easy bleeding, bruising and joint disease are the main complications.
Prenatal diagnosis should be discussed with the mother. This would enable the formulation of a plan for delivery and the puerperium with Haematology input to reduce the risks to the fetus. The neonatalogists can also be pre-alerted.
Prenatal diagnosis would begin with the determination of the fetal sex. This can be done from 12 weeks onwards and is accurate in 70% of cases. If the fetus is female, no further tests are necessary.
If the fetus is male, more invasive tests are needed to reach a diagnosis. This may be performed by CVS from 11 weeks at a tertiary centre. It carries a miscarriage rate of 2% above the background risk. Amniocentesis may be performed from 15 weeks. This may be performed locally and carries 1% excess rate of miscarriage. Fetal DNA is analysed and PCR and linkage used to identify the affected gene.
If the male fetus is affected, she should be reassured that most pregnancies progress smoothly. The incidence of spontaneous bleeding is very small.
The mother should be counselled sensitively- Genetic Counselling would be helpful prior to diagnostic tests. The discussion maybe supported by leaflets, and she should be given the contact details of the Haemophilia Support groups.

B) This is a high-risk labour. Her multi disciplinary team should have made a plan for her intrapartum care antenatally. This should be followed. The mother is at a higher risk of postpartum haemorrhage because she has reduced factor 8 activity (usually quantified antenatally), so large bore iv access should be gained and blood sent for full blood count and G&S. The Consultant Haematologist should be informed of her arrival on LW, so that DDAVP, factor 8 and Tranexamic Acid maybe prepared in case it is required. If the fetus is female or an unaffected male, the fetus may be treated as normal. If the fetus is an affected male or the status is unknown, a number of precautions must be taken to minimise the risk of bleeding. The Consultant Obstetrician and the neonatal unit should also be informed of this patient?s presence. Invasive procedures e.g. fetal scalp electrodes and fetal blood sampling should be avoided. The aim should be for vaginal delivery, minimising the risk of a traumatic delivery to the fetus. Ventouse is absolutely contra indicated due to the high risk of cephalhaematoma. Difficult ?trials? should be avoided, but if a lift out is necessary this should be done using outlet forceps- a caesarean section with a deeply impacted fetal head is more traumatic.
The third stage of labour should be actively managed to reduce the risk of PPH. Maternal factor 8 levels should be measured daily for 5 days postnatally and factor 8 given if the levels fall thus minimising the risk of secondary PPH.
The paediatrician should attend the delivery. Cord blood should be taken to assess neonatal factor 8 levels. Oral Vitamin K should be given- im Injections should be avoided due to the risk of bleeding. The neonate should be handled very gently to minimise the risks of bleeding and bruising.
Breastfeeding should be encouraged postnatally and contraception should be discussed following delivery.
Posted by AMNA  K.
Hemophilia (deficiency of the factor 8) is the most common severe heritable bleeding disorder with prevalence of approximately 1/2000 in the population. It is an X-linked condition. This woman will be told that a female fetus will have a 50% risk of also being a carrier, while the other 50% will be unaffected. On the other hand 50% of her male offspring will be affected and the other 50% will inherit no abnormal genes. She will be re-assured that even with severe fetal hemophilia fetal spontaneous hemorrhage is rare, but there are w ell demarcated cases after traumatic delivery. The most serious risk is that of fetal intracranial hemorrhage after a traumatic delivery. The long term clinical manifestation of haemophlia a will depend upon this child plasma level of factor 8. Levels of less then 1% are associated with spontaneous bleeding from early life. Haemarthroses roses are common and may lead to joint deformity, crippling and need for in patient care. Bleeds into muscles are also common. The use of prophylactic factor replacement from child hood and advances in other therapies have significantly altered the outlook of these hemophilic children. In addition to medical care hemophilic also need social and psychological support.
The women will be informed about the options of prenatal diagnosis. If a suitable marker exists fetal testing is usually carried out by CVS at 11 to 14 weeks. Alternatives to CVS are amniocentesis at fourteen weeks on word and fetal blood sampling by cordocentesis for phenotypic diagnosis of severe deficiencies at 18 to 20 weeks gestation. CVS and amniocentesis carry a background risk of 1-2% of miscarriage and fetal bleeding sufficient to result in death is a recognized risk of cordocentesis. If invasive prenatal diagnosis is declined by the patient an ultrasound scan to determine fetal sex can be carried out. A female fetus will either be carrier or unaffected and this will have implications for management in labor also.
B. on admission in labor it is necessary to establish the most recent maternal factor 8 level and read the care plant that has been prepared antenatally in liason with recognized hemophilic centre. A maternal factor 8 level of 0.4 IU/ml is safe for vaginal delivery and a level of 0.5 IU/ml or more is safe for abdominal delivery (if needed). If this patient?s factor 8 level is normal in the third trimester then no special maternal precautions are indicated. If it is low then DDAVP or recombinant factor 8 should be given under the supervision of haemophilic centre. There is there for an agreement to deliver these women in an obstetric unit that has direct access to hemophilia centre.
Once adequate factor 8 levels are attend no further special precautions are necessary and regional anesthesia may be used. If this fetus is a known haemophilic, or a male and of unknown haemophilic status, or is of unknown sex, care should be taken to avoid traumatic vaginal delivery (vacuum and forceps), fetal scalp electrodes and fetal blood sampling with regards to mod of delivery. An elective caesarean section should only be performed when obstetric indications dictate this.
Maternal perineal trauma should be minimized with prompt suturing after delivery.
Factor 8 level false dramatically back to the pre-pregnancy level within 48 hours of delievery and thus there is a increased risk of secondary post partum hemmarage. Use of intranasal DDAVP is safe in breast feeding mothers. Tranxemic acid 1 gram 3 times a day is also useful in minimizing post natal bleeding. All hamostatic parameters must be normal before epidural catheters are removed.
At the time of delivery cord blood should be sent for all male newborns for factor 8 levels. Intra mascular injection including vitamin K to the neonate should be avoided until its haemophilic status is known. Vitamin K can be given orally. If diagnosis is confirmed referral to the appropriate paediatric haemophilic centre should be made and follow up is arranged prior to discharge home.