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ESSAY 192 - ANTENATAL COUNSELLING

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		Posted by Srivas P. Fri Jun 23, 2006 04:54 am
Cause of Spina-bifida is multifactorial and occurs in 1-2/1000 pregnancies and there are certain high groups and it is essential to take history to ascertain her risks?Diabetes, antiepileptic drugs, not taking folic acid in early pregnancy which may have been protective, family and personal history of NTDs in couple including first and 2nd degree relatives. If either of the couple give personal history of NTD?s the fetal risk could be 4-5%. Still 90 % infants with NTD?s are born to couples with negative family history. She should be told that the range of NTD?s include anencephaly , cephaloceles, encephaloceles and spina bifida and may be present with associated hydrocephalus or microcephaly depending on brain matter herniation and obstruction to CSF flow. She needs to be told she would need preliminary screening for high levels of maternal serum AFP which may detect some cases though it is not raised in all cases. 10-15% of spinal NTD?s, 1 % anencephaly are skin covered and do not leak AFP. Similarly 50 % of encephaloceles maybe skin covered and hence remain occult on AFP screening. Screening is best done between 16-18 weeks but she should be told that it can be falsely low in Diabetic pregnancies and if the baby is having Down?s syndrome and raised with abdominal wall defects, congenital nephrosis, multiple pregnancy, skin disorders, placental and umbilical cord tumours, sacrococygeal teratoma and also maternal liver diseases. If the screening test with AFP is positive she should have Ultrasound screening which may detect NTD?s in 80 % cases with very low false positivity. Spinal defects may be seen as U-shaped vertebra but may be missed if defect is very small. If spina bifida associated with caudal displacement of brain matter, it may be detected on ultrasound as characteristic Lemon and Banana sign. There may be associated hydrocephalus. USG may detect anencephaly in 100% cases. If NTD?s is detected on USG she may be advised fetal Karyptype as there may be associated chromosomal abnormalities like Trisomy 18, 13 and triploidies. It is difficult to give accurate prognosis but it depends on level, length of defect, presence and size of hydrocephalous, presence of microcephaly and amount of brain tissue herniation in cephalocele. She should be told that 90 % infants survive long term but may have lower limb paralysis, urine and bowel incontinence and slightly impaired intelligence. Her views on continuation of pregnancy in case of possible serious fetal impairment should be taken and whether she would like to continue pregnancy in that case. She should be told about possible ventriculo peritoneal shunting to deal with hydrocephalus and post delivery closure of the neural tube defect with varying results. She should be counseled by multi disciplinary team comprising Neurosurgeon and neonatologist. If the baby has anencephaly she should be counseled about very poor prognosis and advised termination of pregnancy If she decides to go ahead with pregnancy she should be told that she may go postdated if the baby has anencephaly. If baby has mild hydrocephalous or a small cephalocele, and she accepts risk of development defects, she may be offered C.S after proper counseling. For larger NTD?s, C.S for fetal sake should be avoided. She should also be counseled regarding recurrence risk (1-5%) and should have pre-conception folic acid (5mg) for subsequent pregnancy.
		Posted by Zaharuddin R. Fri Jun 23, 2006 10:13 am
Risk of spina bifida is evaluated initially by history taking. As the patient is healthy, she is at low risk of having fetus with spina bifida. Family history of spina bifida or other neural tube defect may put her at higher risk. She should be counseled that spina bifida range from frank uncovered spina bifida to spina bifida occulta which only detected upon delivery or when the baby is growing. She should be explained that it is very difficult to predict ex-utero and adulthood prognosis of functional status of spina bifida from the screening antenatally. Functionally status may range from asymptomatic to total neurological paralysis of lower limbs. At 14 weeks gestation, ultrasound should be done for dating. At gestation of 15-20 weeks, serum screening such as high level of maternal alpha fetoprotein (AFP) may put her at high risk. However, covered anaencephaly and spina bifida may have normal AFP.Detail scan at 18-22 weeks may detect almost 100% of anaencephaly, 95% of open spina bifida. If maternal serum AFP level is high but no abnormalities detected, there is high risk of pre-eclampsia and IUGR. Follow up scan should be offerred every 2-4 weeks. If spina bifida is detected, further detailed scan should be done by fetomaternal unit. Any other associated abnormalities should be detected and karyotyping should be offered if chromosomal anomalies suspected.Further counseling by geneticist should be offered. The patient should be delivered at tetiary centre with paediatric neurosurgery unit. Counseling by paediatrician and paediatric neurosurgeon antenatally should be benefit for prognosis and further plan post delivery discussed. The patient should be follow up regularly and appointment should be given. Wriiten information should be given regarding spina bifida. Explaination to the patient and the couple regarding findings and futher plan is essential for them to make an informed choice.
		Posted by Kishor S. Fri Jun 23, 2006 10:27 am
To know whether a fetus has spina bifida or not, she needs to undergo a screening test in the form of measurement of alpha feto-protein (AFP) in her blood. However, she will be told that it is generally done in the presence of risk factors though it can still be done on her request only (justified because it can occur without any risk factors). She needs to be informed of what spina bifida is. It is one of neural tube defects (NTD) and results from the failure of fusion of vertebral arches and can be of two types, open and closed. The aetiology is multifactorial and influenced by environment, diet (folic acid), physiological abnormalities such as hyperthermia, hyperglycemia, teratogen exposure (anti-epileptics), family history, ethnic origin, fetal gender (more in females), amniotic fluid nutrients and various genes. She should be aware of anxiety associated with positive screening test and the implications that spina bifida can have such as paraplegia, lack of bowel and bladder control. In the event of confirmed diagnosis, there will be a need to take decision about TOP, or preparation for delivery of a baby which may require corrective surgery or special needs. The first step is the assessment of her risk factors, which are in addition to the above mentioned aetiological factors, previous affected baby (as there is 5% risk of recurrence and 10% if 2 affected children), whether she took folic acid (4mg/day) preconception, whether she is diabetic or on any anti-epileptic drugs. In blacks or Asians, the incidence is lower than that in the white. The screening test requires an accurate period of gestation and is most sensitive between 16 ? 18 weeks of gestation. Factors that influence the result include maternal age, weight, race, diabetic status, other fetal malformations, number of fetuses and gestational age. Ultrasound dating will be required in case of doubt in gestational age. AFP level is increased in NTD and is expressed in multitiple of median (MoM) of the unaffected population because the levels do not follow a Gaussian distribution. In most laboratories, screen positive is 2.0 to 2.5 MoM at that particular gestation. It has high false-positive rates, only 1 in 16 to 33 women with elevated MAFP actually has NTD. Since there are many other conditions where serum AFP is raised, a repeat sample after 2 to 3 weeks may help in screen positive women. The level tends to regress and normalise in unaffected fetus and a truly elevated ones will still be elevated. But if it is >3.5MoM, it need not be repeated. In case raised MAFP is confirmed, fetus will be evaluated for the anomaly by targeted ultrasound. The defect can be directly visualized or certain associated anomalies can be identified. 99% of spina bifida has at least one of the following: lemon sign, ventriculomegaly, obliteration of cisterna magna, small BPD, banana sign. But these may resolve later in pregnancy. Ultrasound scan may detect other fetal causes of elevated MAFP. In the absence of abnormal ultrasound, the risk is reduced by 95%. However, amniocentesis may be offered, if the suspicion is high on the risk factors or she requests. Amniotic fluid AFP and acetycholinesterase are measured and high level of both can identify occult spina bifida. If AFP is raised both in mother and amniotic fluid, incidence of aneuploidy (e.g. Trisomy 18, 13) is high and karyotyping is to be offered. She will be provided written information so that she can take with her and also support groups such as Association for Spina Bifida and Hydrocephalus (ASBAH), in case she needs further information or help.
		Posted by Ebeinheizer S. Fri Jun 23, 2006 07:28 pm
Spina bifida is a neural tube defect with a range of neurological sequele depending on the sverity of the condition. Parenta; concern and anxiaty during antenatal period need to be addressed with an understanding and non-patronising approach. I would commence the counselling by inquiring the reasons why she would like to know. This would help to address significant reasons such as existing risk factors or mere academic curiosity. I would reassure her that neither her age nor her health would contribute to her baby potentially having spina bifida. However, I would enquire wether her partner or any immediate family member has spina bifida. This might contribute a small risk factor. Usage of noxious substance and recreational drugs might increase the risk as well. I would also explain that spina bifida can co-exist as part of other congenital disorder/syndrome due to spontaneous genetic mutation. I would also address her understanding about spina bifida and its consequences. I would make her undertans that it is a structural deformity of the spinal cord and the overlying cover. I would explain the difference between open and closed spina bifida. Consequences such as lower limb paralysis, bladder and rectal control disorders or even being completely asymptomatic would be explained. The, I would counsel her about the options available if the baby were to have spina bifida. Non-intervention, monitoring and availability of Spina Bifida Support Group upon delivery would be explained. This includes neonatologist and neurologist support. Options for termination of pregnacy in severe conditions will be explained. I will inform her that in-utero surgical invention is still at experimental stage. I will counsel her on the modalities of screening. The importance of accurate dating by ultrasound for subsequent maternal serum screening with alpha feto protein levels will be explained. Options to wait until around 20 weeks for detailed anomaly ultrasound to detect spina bifida will be explained. However, I will also inform her about false negatives. As she is already 14 weeks, there would be no preventive measures that can be undertaken. Howver, normal healthy diet would contain sufficient Folic Acid which is beneficial in preventing neural tube defects. If this baby were to have spina bifida or if her risks are significant, she can take Folic Acid supplement early in future pregnancies, even pre-conceptionally.
		Posted by SANGEETA P. Fri Jun 23, 2006 08:01 pm
The aim of the councelling in this situation is to provide the patient with suffecient evidence in an appropriate manner to ensure that she understands and accepts the associated risks, which will depend upon the individual and the severity of the disease, so that she is able to make an informed decision on how to proceed.Councelling should be done by the experienced person in an non directive manner. Speciefic questions should be asked if she has any particulr concern regarding her request.Age is not a risk factor for the NTD.Family history and partner\'s history of NTD should be enquired as it may put her on higher risk.History of folic acid intake will be taken as it may reduce the incidence of NTD.Her height, weight and ethnic status will be noted as these may be the influencing factor when doing alfa feto protein measurment. Maternal serum AFP measurment should be offered to her which gets increased in cases of NTD with the accurate estimation of gestation age.MSAFP has a sensitivity of detecting NTD of about 75% and the rate of false positive results is .0001 and she should be councelled for all these points.Normally result of AFP is taken as 2-2.5 multiples of mean as normal if it shows patient to be on the higher risk, she can either be offered the amniocentesis which will be examined for amniotic fluid AFP and acetyl cholinesterase but it has the risk of miscarriage(i%) and risk of infection.More sensitive scan fascilities are now coming up which may detect some of the NTD like enencephaly at 12-14 weeks which has almost 100%mortality with in an hour of delivery and rest of the NTD can be detected on the scan at 18-20 weeks ,where we get Lemon or banana shaped head highly suugestive of NTD.Scans has sensitivity of about 80 % with false positive of .0003. If unfortunately she is diagnosed with the NTD, she should be councelled according to the the type of NTD , the level, associated anamolies(as NTD may be associated with other malformations like hydrocephalus, arnold chiari malformations..) and wheather its open or closed defect.Different NTDs like encephalocele, meningocele, myelomeningocele have varying degree os associated morbidity and mortality.Patient should be refferred to the fetal medicine centre to have an opprtunity to see the specialist as well as the pediatrician to discuss the possible offerred treatment and prognosis of the NTD,surgery and long term morbidity should she decide to continue with the pregnancy.She will have regular follow up in the anteanatal clinic with regular growth scan as most of NTD babies may be growth retarded.Mode of delivery will be decided depending upon the type, severity of NTD and the parents\' wish.Paediatrician shoul attend to the baby at birth and have plan for the baby.Most fetal medicine centre has fascilities to operate on the baby within 1-3 day . Every hospital should have their protocols and guidelines for such councelling and should be foloowed and regularly audited to make sure that best practice is being achieved.
		Posted by Remi A. Fri Jun 23, 2006 09:04 pm
In this case,Counselling should be by an appropriate counsellor,in a private enviroment and in a non-directive manner. The reason for the woman request should be explored and unfounded fears should be allayed. History should be directed at possible risk factors,which include :history of neural tube defect in the woman or her partner,history of gastric bypass surgery,family history of Diabetes,or intake of antiepileptic drug. Result of biochemical screening should also be reviewed.[high level of MSAFP may be associated with increased risk] In the abscence of any this factors,she should be reassured and antenatal care should be as routine. A second appointment should be provided if necessary.Information leaflets should be provided. In the presence of any risk factor,she should be counselled and book for a detailed anomaly scan at 18-20/40. Anomaly scan would detect about 99% of anencephaly,and 90% of other neural tube defects. If the anomaly scan is normal,She should be reassured,and antenatal care should be as routine. However, if a neural tube defect is detected,She should be reffered to a tertiary centre.Karyotype would be indicated.Counselling int his situation should be Multidisplinary invoving fetal maternal specialist and paeditrician. Termination of pregnancy would be an option in cases of lethal defects like anencephaly,meningomyelocele. Contact of neural tube defect support group should be provided.
		Posted by Aroosha B. Sat Jun 24, 2006 07:01 am
The counseling will be done by taking a detailed history and asking the reason why she wants to know and if there is any family history. In the presence of family history even in third degree there is 2-5 % risk and it is 1-5 % if parent effected. However 90 % cases occur without any reason. It has an incidence of 1-2/1000 in Caucasians. The other risk factors for increasing the chance of baby having spina bifida, the women with diabetes, those on antiepileptic drugs and history of Gastric bypass surgery, which are unlikely in her case. 50 % cases of spina bifida occur in lumber region and 95 % of cases are associated with Arnold Chiari malformation which appear as ?banana and lemon? signs on USG and results in hydrocephalous. She will be told about various tests in detail. The first screening test is serum screening, which consists of detection of MSAFP. It is detected most accurately at 16-18 weeks gestation and her gestational age is to be known accurately by dating scan. The patient will be told that it is raised in 90 % cases and in 10 % cased level may not be raised even if the child has spina bifeda because the defect is covered. She should be informed that this marker is raised in many other conditions, so a high level has to be supplemented with other tests. After a raised MSAFP, the next test modality is USG. USG is used both as a screening and diagnostic tool and detects 90 % of cases. Aminocentesis for detection of AFP and cholinestage is done when MSAFP is raised but USG findings are normal which is in cases of closed spina bifida. Whether a karyotyping should be done depends upon finding of other abnormalities on USG. She may need further counseling, for which she can be referred to a tertiary center because of more expertise in both USG and detection of fetal anamolies. The patient will be told that it is difficult to detect antenataly the effect of abnormalities on neonatal outcome but mostly it results in lower limb paralysis, urinary and fecal incontinence depending upon the site of lesion. Her attitude towards the abnormalities should be determined. If she wants to continue with the pregnancy then increased fetal survillance is required. She should also be given information that folic acid, when taken 5 mg daily for 3 months pre conceptually, causes 4 fold reduction in the risk of NTD. She should be given detailed information about the defect in form of written material which she can take and addresses of various web sites to get more information.
		Posted by Raja kumar S. Sat Jun 24, 2006 04:14 pm
m Counselling in this situation,would need to consider ;her under standing of the condition (spins bifida) ,explain in non medical term ,that it is basically failure of closure of the fetal neural axis,(failure of the spinal cord to form completely ,and that it most commonly affects the lumbar region ,and it can be a open or closed variety,depending whether it is closed by skin or not.) Explain that the causes are multifactorial (genetic, nutritional deficiency(folate),infection, toxins,environmental factors(radiation).Also explore her reasons for concern regarding Spina Bifida ,Note that the background incidence of spina bifida is 1-2per1000.and the presence of risk factors like ,famiy history of neural tube defects,personal history of iddm,taking anti seizure medications(na valproate).cealiac disease and gastrric by pass surgery(risk of malabsorption).increasEs the risk of spina bifida/NTD. REgarding detecting spina bifida,explain that a biochemical screen test and a diagnostic scan will be needed.This includes a MSAFP LEVELS (best done at 16-18 weeks poa),but as a prerequisite she needs a confirmatory scan to confirm her gestational age.MSAFP is associated with a 10-15% false negative results(closed ntd).Subsequently she wouldneed to undergo a detailed anomaly scan(idealy in a tertiary centre with an experienced feto maternal unit) able to detect 100%anencephalyand nearly 92-94%sina bifidas..and as such should inform further management.In the event an anomaly (spina bifida is found ,she would need to consider a prompt discussion with a paediatric neurosurgeon,neurologists ,neonatologists and obstetericians regarding the prognosis for the baby,any corrective surgery and management during labour and delivery.(Which could be done an the tertiary centre itself),also it will be prudent to undergo amniocentesis as to detect any aneuploidy(assoc with trisomy 15,18)and to do a detailed scan to detect presence of any other anomalies.(more so if MSAFP is raised and no NTD noted onscan.(congenital nephrosis,abd wall defects,obstructive uropathy,). Absence of any NTD and raised MSAFP , increasae the risk of poor perinatal outcome (still birth,prom,preclampsiaand pre term delivery) and as such her ANC SHOULD BE informed(increased surveillance for any obstetric adverse event,regular fetal growth monitoring). Post test counselling should include discussions regarding T.O.P in the presence of any lethal anomalies or if she so wishes after all the information has been considered and gives an informed consent. Explain regarding the beneficial effect of folate supplements,but must be taken preconceptually to have any beneficial effect.
		Posted by adnan S. Sat Jun 24, 2006 06:41 pm
History is taken regarding request why she wants to know whether or not her baby has spina-bifida .Any family h/o having an affectrd baby with spins-bifida including third degree relations ,2-5% risk if one affected child,1-5% risk if parents affected.At 16-18wks maternal serum alpha fet-proteins(MSAFP) is requested,which is most accurate at this gestational age and anomaly scan at 18-20wks is done.If MSAFP are abnormal detailed anomaly scan is done .50% of spina bifida located in the lumbar spines,10-15% of them are covered with skin and do not leak AFP.92% of spina bifida can be detected in the anomaly scan.Spina bifida is associated with ventriculomegaly and other CNS defects like Arnold-Chiari malformation ,caudal displacewment of cerebellar vermis ,medulla and fourth ventrical this leads to Lemon sign:scalloping of frontal bones due to caudal displacement of cranial content and Banana sign:flattened cerebellar hemisphere with obliteration of cisterna magna.Prognosis depends on level and length of defect lower the lesion better the prognosis and presence of neural tissue in meningeal sac.Talipes is often associated with lumbosacral spina bifida and may respond to physiotheraupy or surgery.Long term survival is >90%,results in lower limb paralysis,incontinence and intellectual impairment.Amniocentesis is considerd as as spina bifida can be associated with aneuploidy.Recurrence risk is around 1-5%,pre-coneption folic acid is considerd 5mg in subsequent pregnancy. If MSAFP are abnormal with normal anomaly scan Amniotic fluid AFP along with acetyl cholinesterase is considerd.Pre-test counselling is done regarding other causes of abnormal MSAFP like wrong dates ,upper GIT obstruction ,Congenital nephrosis,placental/cord tumours,feto-maternal haemorrhage,maternal smoking associated with increased risk of IUD,PPROM,IUGR,and pre-eclampsia. Ultra sound and serum screening test are cost effective and most centres offer both modalities of screening tests ,anomaly scan detects along with neural defects other anomalies also.Verbal counselling is supported with information leaflet is given.
		Posted by M H. Mon Jun 26, 2006 10:07 pm
Spina bifida is a neural tube defect that occurs in the spine. A meningocoele is where the dura and arachnoid mater bulges through the defect while a myelomeningocoele is where the cord is also exposed. Counseling of this lady should occur with her partner if possible. The definition and implications of the diagnosis should be explained in lay terms to ensure full understanding. Biochemical testing with maternal serum alpha fetoprotein (msAFP) can be offered but this only detects open spina bifida cases. It is most sensitive at 16 weeks where the separation is or difference between normal and pregnancies with an open defect is the largest. The detection rate is about 72% with a false positive rate of 0.001%. This test however may be falsely elevated in multiple pregnancies, smoking and women of Afro-Caribbean descent. A detailed ultrasound can also be offered. It has 99% sensitivity (detection rate 81% with false positive of 0.0003%) and its advantage lies in the fact that it can detect other associated anomalies. 90% of fetuses with spina bifida have hydrocephalus. This carries a poorer prognosis compared to an isolated lesion. Prognosis is dependant on the level of the lesion (the lower down the spinal column, the better the prognosis); the presence of other anomalies, presence of a myelomeningocoele (carries a higher morbidity with mental retardation, bowel and bladder dysfunction). If diagnosis is confirmed, referral to pediatric surgeon and neonatology?s is important for the couple to fully understand the implications and prognosis post delivery. Delivery should be in a centre that has neonatal surgical and intensive care back up. Vaginal delivery is not contraindicated. Post delivery, care should be taken not to rupture the membrane around the defect. The defect should be dressed in saline soaked gauze and kept moist. The baby should be referred onto the pediatric neurosurgeon for further treatment. Full extent of disability cannot be determined ante partum. The recurrence risk is 1 in 25 if spina bifida is present in one sibling or a parent. It rises to 1 in 10 if 2 or more siblings are afflicted with it. The incidence of spina bifida can be reduced with folic acid supplements in first trimester. All information should be backed by written information. She can be referred to a support group if appropriate.