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ESSAY 209 - ANTENATAL COUNSELLING

Posted by Zaharuddin R.
Discussion with the patient regarding the disease is important that Haemophilia A is a sex X-link recessive disease. The patient herself is a carrier of the disease.

The most important investigation is to determine sex of the fetus antenatally. In the first trimester, choriovillous sampling could be offered. Risk of miscarriage and failure of culture about 2% must be explained. The advantage of early diagnosis may offer early termination of pregnancy if the patient requested.

Amniocentesis could be done at 15-20 weeks gestation but 1% risk of miscarriage & culture failure must be explained. However termination of pregnancy at second trimester is more traumatic psychologically.

Another method is cordocentesis to determine sex and karyotype of the fetus with 2% risk of miscarriage.

Determination of sex should be done by ultrasound during detail scan at 18-22 weeks. The patient expectation and thought should be explored if the fetus is male either to terminate or to continue the pregnancy. If she decided for termination of pregnancy, mode of termination is depending on gestation of pregnancy. If she decided to continue her pregnancy, she should be followed up as other pregnant women.

The patient might have low level of factor VIII during her pregnancy. Extra care should be taken especially if she is in established labour as she is at high risk of primary post partum haemorrhage. Blood should be taken for group and cross matched and third stage of labour should be managed actively.

If the fetus is male, invasive procedures such as fetal blood sampling of internal cardiotocograph should be avoided. Vacuum assissted delivery should be avoided as it is associated with fetal subarachnoid haemorrhage. Upon delivery, the baby must be examined by the peadiatrician and follow up.

Written information shoud be given to the patient regarding options for prenatal diagnosis procedures and she is encourged to join support group such as local Haemophilia society. Date for further follow up should be given.
Posted by Ebeinheizer S.
I would counsel her that Haemophilia A is a X-Linked Recessive pattern inherited blood clotting disorder. Haemophilia A is characterized by prolonged time taken for blood to clot due to deficiency in Factor VIII. This means she would be carrying the gene from her father as boys become sufferers and girls become carriers.

I would tell her that some women who are carriers, might have defective clotting profile as well due to gene lyonization. In view of this, I would arrange for a Haematologist review and assessment of this patient?s clotting profile. Even though she is healthy, minor clotting defects would not show until screened. In the rare event of minor clotting defects, extra caution to prevent excessive bleeding during pregnancy and childbirth will be instituted. She would have full blood count, factor VIII level and clotting profile screening which would be repeated at 28 and 32 weeks. Her midwife and GP will also be informed of the defect.

I would counsel her that she could pass her Haemophilia A gene to her baby. If she carries a boy, there is 50% he would suffer Haemophilia A like his grandfather. If it is a girl, there is 50% chance that she would be Haemophilia A carrier like her mom or not inherit the gene at all. However, if the baby?s father (patient?s partner) is Haemophilia A as well, there is also 50% chance of her daughter to suffer Haemophilia A. In view of this, I would offer partner screening for Haemophilia A.

I would counsel her that it is possible to obtain an antenatal fetal diagnosis by performing chordocentesis and analyzing the the fetal blood for Haemophilia A. However, this carries some risks such as cord haematoma, infection and pregnancy loss. Just knowing the sex of the baby and managing as Haemophilia A until delivery is an option. However, I would explain that ultrasonic determination of sex is dependent on fetal position during scan and operator skills and could be erranous. I would help her to make an informed decision with leaflets and diagrams.

I would counsel her that she can have a normal vaginal delivery. Induction of labour or Caesarean Section would only be for Obstetric indications. During labour, she would have intra-venous cannula and full blood count with clotting profile rechecked. Blood would also be grouped and saved in case of bleeding during and after delivery. Fetal scalp clip electrode and fetal blood sampling would be avoided. Potentially difficult instrumental delivery would be avoided and forceps would be preferred if necessary to prevent intra-cranial haemorrhage (which is more commonly seen in ventouse delivery) for the baby. I would explain that she can have epidural analgesia for labour if there are no other contra-indications. The baby would also be reviewed by the neonatologist upon delivery and intra-muscular injection (e.g. Vitamin K) avoided until the clotting status is known.

Postnataly, there would be extra caution for potential postpartum haemorrhage especially if she has minor clotting defects. Depending on risk factors, she might still receive thromboprophylaxis sub-cutaneous injections even though intra-muscular injections are preferably avoided. There are no strict restrictions for contraception except to avoid COCP for the first 3 months postpartum. If she has clotting defects, IUCD is not recommended as it can cause heavy bleeding. If she has a Haemophilic baby, I would explain that she can get further support from Haemophilia Society Support Group.
Posted by Freha Z.
Women should be counselled with her partener in a non-directive manner preferably by genetic counseller and physician who has experience in treating haemophilia patients. She should be informed that Haemophilia A is a bleeding disorder which is inherited in a x- linked manner where Factor V111 levels are low which is responsible for clotting. Males have severe bleeding disorder while females are careers of disease and they themselves don\'t have severe bleeding disorders. She should be offered career identification tests and informed consent should be obtained before taking the blood samples for career tests. If career state is confirmed prenatal diagnosis can be offered.
Chorionic villous sampling can be offered at 11-14 weeks. Advantages are less complications if she opts for termination. Alternatives are amniocentesis from 14 week onwards and cordocentesis. CVS and amnicentesis are associted with 1-2% risk of miscariage. Whereas cordocentesis can cause sufficient fetal bleeding resulting in fetal death. If she declines prenatal diagnosis fetal sex can be diagnosed by ultrasonograpy. She should be informed that if mother is a definitive career, male fetus has 50% chance of being affected.
General pregnancy advice is given to optimize weight , minimize alcohol intake and cessation of smoking. She should be informed that her risk of bleeding is higher in postnatal period as compared to during pregnancy because levels of Factor V111 are increased during pregnancy and they return to pre-pregnancy level after delivery. Therefore there is need to moniter the levels in each trimester of pregnancy. While treatment is usually not required unless during delivery, in postpartum period, during invasive procedures or if levels are low.
Regarding fetal risks most serious is intracranial haemorrhage. So traumatic delivery(ventose and forceps) is containdicated. Invasive monitering is also avoided. Caesarean is reserved for obstetric indications. Epidural can be given if Factor V111 levels are normal. Neonate especially male has risk of bleeding from puncture sites, the umbilical stump and during circumcision if applicable.
She should be told that she needs postnatal monitering for secondary haemorrhage and might need treatment with intranasal DDAVP or Tranexamic acid both of which are safe with breast feeding.
Couples views should be taken and documented carefully and clear plan of management should be formulated and documented.
Pre-implantation genetic diagnosis can be offered in next pregnancy.
Posted by Kishor S.
Since haemophilia A is an X-linked recessive disease she becomes a carrier and her son will have 50% chance of having the disease and daughter will have 50% chance of being a carrier.

Management of her pregnancy should involve haematologist, in addition to O&G team (myself, special nurse, and midwife). Since her father suffers from the disease, she is likely to be aware of local haemophilia support groups. However, this point needs to be confirmed.

Factor VIII increases in a pregnancy and as a carrier, she is not at a risk of bleeding but if she has a rare condition, lyonisation of X chromosome, she can have low level of factor VIII. Therefore, coagulation studies should be monitored during pregnancy, specially during invasive procedures such as CVS and at delivery.

At this visit, screening for haemophilia should be discussed and her attitude towards an affected fetus/child assessed. This requires careful explanation of implications of an affected or carrier fetus. It should be made clear to her that screening/diagnosis is necessary for the optimum management of the pregnancy even if she is not interested to know. Termination of an affected male fetus may be discussed in this context

Sex determination would be considered a screening test. It can be done with CVS, amniocentesis and ultrasound. In situation where she does not want to know about the status of the fetus, sex determination by ultrasound during second trimester is advisable for planning her intrapartum care. CVS and amniocentesis are both screening and diagnostic tests but carry procedure related fetal loss of 2% and 1% respectively. CVS is carried out after 9 weeks and thus she has to wait for another week at least. It has the advantage of early diagnosis that allows for a relatively safe termination of pregnancy. However, she should be explained that sometimes mosaicism may interfere with the result.

In addition she should be offered standard screening of Down?s syndrome and NTDs as her age dictates.

Factor VIII level falls rapidly immediately after delivery, hence the delivery should be planned with adequate maternal replacement of clotting factors as necessary to pre-empt haemorrhagic complications at delivery and the puerperium.

Epidural analgesia can be given after ensuring correction of coagulation defect (if any) and will involve discussion with the consultant anaesthetist. If the fetus is known to be affected or the status is not known, invasive monitoring e.g. fetal blood sampling or scalp electrode and ventouse delivery are contraindicated due to the risks of fetal haemorrhage. Caesarean section should be for obstetric reasons only with the recognition that bleeding problems may arise and haematology staff alerted accordingly.

Following delivery, cord blood should be sent for neonatal diagnosis. In male neonate, intramuscular injections e.g. vitamin K avoided until the neonatal status is determined to avoid painful haematoma formation at injection sites. With regard to post partum care, if clotting factor replacement is required then it should be continued for 3-5 days. She should be encouraged to breast feed as there are no adverse sequelae in haemophilia. With regard to contraception there no specific adverse effect to any type. Gender pre-selection is not currently available while planning for future pregnancy.

Posted by Aroosha B.
This woman needs to be explained about the mode of inheritance , nature and implication of disease.
Hemophilia a is x- linked recessive disorder characterized by factor V111 deficiency .As her father suffers from hemophilia , she is an obligate carrier. She has 50%chance of giving birth to hemophilic child if it is male or a carrier if it is female .
As regard the disease and its implication , as she is carrier , usually they have adequate factor level of around 50%. She is at risk of spontaneous hemorrhage or hemorrhage after trauma or surgical intervention during pregnancy , but this risk is not significant during antenatal period as FACTOR VIII level normally increases in pregnancy . This risk increases more in postpartum period due to sudden reduction in FACTOR VIII level.She is at more risk of getting infection from blood products.
She will be informed that she would be managed with close collaboration with haemophilia centre and team of obstetrician , neonatologists , and anesthetists. As she is healthy the history of bleeding disorder is unlikely but it is important to ask such history as it may be an indicator of monitoring of FACTOR VIII level.it is also important to ask about immune status of HEP B AND A. If she is found non immune to HEP B then vaccination can be considered in pregnancy while in case of HEP A it is done in postpartum period. As regards her further antenatal care she will be informed that she requires careful monitoring of FACTOR VIII level throughout her pregnancy a esp at this visit at 28 weeks ,34 weeks and before delivery , discussion of different method of prenatatl diagnosis is tobe done which will help to know her attitude towards affected fetus . Moreover prenatal diagnosis also assists in intrapartum care and prepare the parents for care of affected child.prenatal diagnostic tests includes cvs done in first trimester but its associated with fetal loss of 1 to 2 percent.amniocentesis done after 14 weeks of pregnancy ( associated with 0.5 % to 1 % loss ).Cordocentesis . All these investigation are invasive associated with risk of fetal, maternal and placental bleeding .Other option is to diagnose fetal sex by USG 18 to 20 weeks and if fetal genitalia are not visualsed due to fetal [position USG can be repeated
..
As regards her intrapartum care adequate maternal clotting factor is to be ensured prior to onset of labour.(for normal vaginal delivery the factor activity should be 40 IU /dl and for instrumental delivey and LSCS 50 IU/dl). In the absence of obstetrical C/I vaginal delivery is preferred but early recourse to LSCS is to be done if fetus is affected or fetal status is unknown .
Internal fetal monitoring and fetal blood sampling is to be avoided as is the use of midcavity and killands forceps and ventouse . Epidural anesthesia can be given if platelet count is more than 100000 with consultation of anesthesist. IM injection should not be given and S/C and IV route is preferred during labour . It is be ensured that clotting factors8 is not deficient before removal of epidural catheter. She will be closely observed for primary and seconday PPH and any perineal hematoma in post partum period . Cord blood is to be sent for diagnosis . Till then IM injections are to be avoided in neonates . If neonate is found affected , its further r care will be done by hemophilia centre . Couples should be put in touch with support group.
She will be also counseled of option of gender selection in preconceptional period in future pregnancy.
Posted by Sarwat F.
Haemophilia is a sex linked recessive disorder. It leads to clotting factor VIII deficiency that causes clotting deficiency and bleeding disorder. A father will transmit this gene to all her daughters so all daughters will be carriers like this woman.
Woman will be couselled about the risk of transmission of the disease to the offspring. She will be explained that 50 % male fetuses will be affected and 50 % female fetuses will be carriers if partner is normal. Risk of transmission will increase if the partner is affected.
Options available for diagnosis of sex of the baby include karyotyping by amniocentesis or chorionic villous sampling, cordocentesis and ultrasound in late second trimester. Amniocentesis and chorionic villous sampling constitutes invasive prenatal diagnostic methods and are associated with risk of miscarriage of 1 to 2 % above the backgroung risk. Other risks include placental mosacism with CVS and infection and amniotic band formation with amniocentesis. Risk associated with cordocentesis include infection, fetal injury and preterm labour. Ultrasound is a noninvasive method and does not carry any known risks although sensitivity in determining sex on ultrasound examination depends on operator and machine available.
Woman will be asked about her attitude towards affected fetus whether she would like to continue pregnancy or opt for termination of pregnancy. She will be explained about risks associated with termination like need for anesthesia, risks associated with evacuation of uterus like bleeding and uterine perforation and moral and psychological issues.
If woman likes to continue pregnancy with fetus carrying the gene, her antenatal care will be jointly managed with obstetrician, haematologist, neonatologist. Geneticist will be involved from early stages to counsel about the risk of transmission. There are no congenital abnormalities associated pregnancy will be managed as any healthy pregnancy. however certain precautions are needed in labour. Fetal blood sampling is avoided, traumatic delivery is avoided. Group and hold is done in labour as there is risk of postpartum hemorrhage. Caesarean section is reserved for obstetric indications. Senior person must be doing C. section to minimize the risk of bleeding. Active management of third stage of labour is done. Neonatologist must be present at the time of delivery. Baby will be examined and investigations done to determine if baby is affected or not.
Woman will be given postnatal appointment to discuss implications on future pregnancies depending on the fact that this baby is affected or not.
Posted by neera  B.
Hemophilia A is a X linked recessive disorder, so males suffer while females are carriers. If her genetic father is a sufferer , she would be a carrier. Carriers have low levels of factor VIII , depending on how low the level is, the carrier has different degrees of bleeding tendency.
History of severity of bleeding tendency in her and use of factor VIII concenterate or DDAVP ever earlier should be asked.
She should be advised booking in a consultants unit. a multidisciplinary team , including a hematologist, a Sr. obstetrician, a Sr neonatologist, genetic councillor, and a experienced midwife will look after in liason with the regional Hemophilia Centre. A management plan for the pregnancy and labour will be made.
Genetic Counsellor would counsel risk of inheritance by her baby- half of her sons will be sufferers and half of daughters will be carriers if her husband is normal. Prenatal diagnosis at 10-12 wks. by chorionic villous biopsy, which carries a 1-2 % risk of miscarriage exist . At 18 wks. cordocentesis can be offered. If the fetus is female further tesing can be witheld.
She would be advised blood tests to check F VIII level now and once in each trimester. Her blood group and Rh, RBC antibody status and dating scan are advised. If F VIII level is low recombinant Factor VIII or DDAVP can be given which increases the F VIII level and is not a bllod product. Physiologic change in pregnancy increases the F VIII level hence the bleeding tendency is likely to improve.
Delivery should be in consultant care. Care plan formed in liason with hemophilia centre, anaesthetist, and hematologist will be followed.
Wide bore cannula is placed , epidural allowed if F VIII levels are normal, vaginal delivery is permissible, caesarian is for obstetrical indications, instrumental delivery avoided, if essential, forceps is preferred to ventouse. Scalp Ph and scal;p electrodes are not used. If F VIII levels are low, FVIII concenterate or DDAVP is given.
Risk of secondary PPH are increased due to sharp regression of pregnancy changes.Neonatal F VIII levels done and recombinant F VIII given if level is low to prevent intracranial h\'ge. I/M injections are avoided , oral Vit K is given.
Contraception is advised and she is advised preconceptional counselling prior to next pregnancy.


Posted by Ismatara B.

Hemophilia A is an X-linked recessive disorder and since her father is a sufferer this patient is an obligate carrier. So her sons have a 50% chance of being affected and her daughters have a 50% chance of being carriers and she should be counseled about this risk. Risk of transmission will increase if the partner is affected. It is an inherited bleeding disorder characterized by factor VIII deficiency. Carriers usually have factor VIII level around 50% and no abnormal bleeding. But if lyonisation occurs abnormally low clotting factors are present and increased risk of bleeding during invasive procedures e.g. CVS or during delivery. Therefore a history of menorrhagia or any post-operative bleeding after dental procedures may indicate low factor VIII levels There is a tendency for factor VIII levels to improve during Pregnancy but it drops rapidly after delivery and hence a risk of PPH.
At her booking appointment, screening for haemophilia should be discussed The couple is counseled and their view regarding an affected child is known. The implications of an affected fetus and a carrier fetus should therefore be carefully explained. Severely affected male children are at increased risk of spontaneous bleeds into muscles and bones and require frequent clotting factor replacement. Those mildly affected may only bleed after major surgery or trauma. Depending on their views, termination of an affected male fetus may be discussed in this context. If the woman continues the pregnancy, she should be offered prenatal diagnosis by chorionic villus sampling, amniocentesis and fetal blood sampling. She should be explained that associated risks of fetal loss, culture failure and also increased risk of chorioamnionitis and bleeding. Use of DNA techniques (such as PCR) should allow firm diagnosis. Sex determination can also be done at the same time. She should be explained that CVS can be offered at 11-14 weeks if she prefers with earlier results which can allow earlier termination and also is associated with fewer maternal risks with less emotional distress than mid-trimester termination following amniocentesis (done after 14wks of pregnancy). But amniocentesis cause less fetal loss (0.5-1%). Cordocentesis can be done at 16-18wks; risk of fetal loss is 3%. If she declines prenatal diagnosis, USS may be offered for sex determination. Though it is a noninvasive and does not carry any risk but sensitivity in determining sex will depend upon operator and machine available. Gender selection is not possible. Written information should be given to the patient regarding various method of prenatal diagnostic (risk, benefit) and patient choices should be regarded as well.
The pregnancy is managed in a hospital with a hemophiliac unit with a close liaison between the hematologist and obstetrician. Blood is sent for FBC, grouping and antibody status. Coagulation studies and clotting factors should be monitored during the pregnancy at booking, 28 and 36 wks. Replacement with recombinant factor VIII is considered if it remains low at 36 weeks.
Delivery should be planned with adequate maternal replacement of clotting factors as necessary to avoid bleeding during and after delivery. Antenatal a discussion with the anaesthesist should be arranged regarding pain control during labour and C/S if needed. Epidural anesthesia is considered after discussion with the consultant if the clotting factors are corrected and within normal limits. She should be reassured that if female or unaffected male management can be done as normal women. If the fetus is affected or the status is unknown (sex or disease status) invasive fetal monitoring (blood sampling, scalp electrode) is contraindicated. Instrumental delivery should be avoided,if necessary simple lift out forceps is preferable to ventouse. Ventouse is absolutely contraindicated. Caesarean section is done for obstetric indications only with the recognition that bleeding problems may arise and haematology staff alerted accordingly.
Clotting factor replacement is considered immediately after delivery if clotting defect is present or bleeding occurs and should continue for 3-5 days. Desmopressin can also be used. It has to be ensured that no clotting defect is present before epidural catheter is removed. Neotologist should be involved. Following delivery, cord blood should be taken for a clotting assay. Neonatal intramuscular injections are avoided until diagnosis is confirmed. Oral vitamin K may be considered.
Breastfeeding can be continued. Contraception advice shold be given if needed. With regard to the next pregnancy, preconceptional counselling shoud be done prior to next pregnancy and informed that gender pre-selection is possible through IVF and preimplantation diagnosis. She should be made aware of local or national haemophilia support groups e.g. The Haemophilia Society Support Group for additional information, support and bringing up children with the condition. She should provide written information and further appointment if necessary.

Posted by afroz S.
Counseling of this patient starts with explaining the nature of the condition which is a genetic disorder [x- linked disorder]. The risk to the mother is only minimal in the form of hemorrhage at the time of delivery[ PPH]. The couple should be counseled about the risk of transmission of this condition to the baby. If it is a male child,50 % will be affected and 50 % of female children will be carriers. Referral for genetic counseling including Geneticist is important. The different methods for the detection of baby\'s sex should be discussed with the couple including the risks and benefits of each method. The different methods include chorionic villus sampling which is done after 10 weeks of gestation. The patient is counseled about risk of miscarriage which is 1-2% with CVS & it also carries a risk of moscaism which is 1%.CVS may also be associated with increased risk of bleeding in this patient. The advantage of this procedure being the results will be obtained within 48-72 hrs which allows early termination of pregnancy in affected baby if patient requests for it. The other alternative which is amniocentesis is also discussed which is done after 15 week gestation associated with 0.5-1% risk of miscarriage. The other alternative cordocentesis is also explained to her. This procedure is associated with cord hematoma and fetal death. All these options are explained and informed consent should be taken.
The other noninvasive test for the sex determination is ultrasound which is done at 20 weeks of gestation. The implications of the affected child is discussed with the woman including bleeding into muscles and joints or after trauma. The implications of the carrier child are transferring this condition to her male child by 50 %.The couple\'s view regarding the affected child is taken into consideration including termination or continuation of pregnancy.She requires follow up in collaboration with hemophilia center and requires regular monitoring of clotting factors.The fact that she may require recombinant factor 8 transfusion during pregnancy or labour should be told.
She is counseled that during labour the procedure such as fetal scalp electrode, fetal blood sampling, ventouse delivery will be avoided. She should be told that regional anesthesia will be done if the clotting factors are normal and in consultation with the anesthetist. Vaginal delivery is preferred and CS to be done for obstetric reasons. The risk of PPH is explained.
The pt is told that the neonatologist will be involved in the baby\'s care. The cord blood will be taken for clotting factors estimation and the baby should not receive any intramuscular injections.
The woman should be told that breast feeding is not contra indicated and appropriate contraception advice should be given. The couple should be given the address and contact details of support groups involved in dealing with hemophiliacs. The predetection of baby\'s sex in next pregnancy with the help of pre-implantation genetic diagnosis and IVF is possible.