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MRCOG PART 2 SBAs and EMQs

MRCOG Part 2, MRCOG 2

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ESSAY 142 - CPC

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		Posted by velam K. Fri Jan 28, 2005 10:44 pm
Choroid plexus cysts are small cystic dilatation in the choroid plexus of the lateral ventricles. They occur in 1-2% of normal fetuses. They are usually transient and lack clinical significance. They resolve before the end of the second trimester. As much as 5% of these cysts will be associated with trisomy18. 1% may have association with other karyotypic abnormalities. They do not increase the age associated risk of trisomy 21 if the patient is less than 35 years which is the case in this patient. It is essential to look for the presence of other structural abnormalities in the ultrasound. The management of this patient involves a detailed counselling of the patient and her partner. They should be reassured about the benign nature of this finding.It should explained to the patient that since it is an incidental finding in most of the times there is no consensus opinion about whether to arrange amniocentesis based on this finding, as amniocentesis is associated with a risk of 1% miscarriage. One option is to obtain a serum screening if not already done and incorporate the results in decision making. It is important to look for the presence of other structural abnormalities like cardiac , skeletal defects, presence of rocker bottom feet, clenched fist, polydactyly etc. It should be explained that most authorities agree if the serum and ultrasound findings are normal then there is no need for invasive diagnosis. It is important to know about the family history of chromosomal abnormalities which increase the risk of their occurence. If the patient opts for conservative management then scan should be arranged for follow up in 3-4 weeks. If there is presence of other risk factors as mentioned above or if the patient wishes a definitive diagnosis then amniocentesis should be arranged. she should be counselled in detail about the procedure and the risk factors involved with it. There is no evidence to show the association between choroid plexus cyst and adverse pregnancy outcomes like 1UGR. But the patient can be offered scan in third trimester mainly for reassurance.As the cyst usually resolves by birth there is no evidence to show the routine need for follow up in the fetus.
		Posted by Vaijayanti R. Sat Jan 29, 2005 01:30 am
The ultrasound finding of choroid plexus cysts can be very distressing for the parents to be.These are cystic dilatations of the choroid plexus of the lateral ventricle ; seen in about 1 ? 2% of all pregnancies.At 20 weeks the clinical significance is not much as most of these cysts regress spontaneously by 30 weeks.They do not affect normal brain development. However,approximately 5% are associated with Trisomy 18, and 1% with other chromosomal defects including Downs Syndrome. There has been described an association with other structural defects ? rocker bottom feet, single umbilical artery, cardiac and craniofacial anomalies. Detailed fetal anatomy assessment along with karyotyping is offered.She may have to undergo more frequent usg to monitor the regression of the cysts,and the development of other complications including polyhydramnios/oligohydramnios/growth retardation. Bilateral choroid plexus cysts of more than 10 mm are supposed to have a greater correlation with chromosomal defects ? this has not been proved as defects have been identified with unilateral cysts of less than 10 mm in diameter Review her history( including obstetric ), for any evidence of chromosomal defects ( Trisomies) and congenital structural defects in her family;though the recurrence risk is low The report of the biochemical screen ? combined / integrated or the triple marker screen done at 16 to 18 weeks is reviewed. Trisomy 18 is associated with a low maternal AFP, Low HCG and low serum estriol concentrations.this would indicate any risk of either Trisomy.However, this is not a definite diagnosis. The anomaly scan report is also reviewed for any structural defects which are considered to be soft markers for chromosomal defects- polyhydramnios,oligohydramnios,single umbilical artery,persistently clenched fists, hyperechogenic bowel.Apart from nuchal edema no other soft marker has been found to have a correlation with Downs syndrome Amniocentesis is offered;the risks of the procedure ? miscarriage rate of 0.5% to 1%, and a culture failure rate of 0.5% must be weighed against the need for a definitive diagnosis.In this woman, it would be prudent to perform the procedure is there is an abnormal biochemical screen or soft markers identified on USG. She will be counselled and reassured that isolated choroid plexus cyst has a good prognosis.Though the presence of these cysts is associated with a 50% increase in age related risk,at 20 years of age, her calculated risk for a trisomy is too low to offer invasive diagnosis ( cut off risk is about 1 in 280 to offer karyotyping). Any decision will be taken with the full informed consent of the woman and her partner. Routine antenatal care is advised, with more frequent USG to identify cyst regression.There is no contraindication for vaginal delivery ; caesarean section is done for obstetric indications.Postnatal cranial USG and karyotyping may be offered if no further investigation has been done during pregnancy.
		Posted by Sarwat F. Sat Jan 29, 2005 07:56 am
A single choroids plexus cyst is not seen to be associated with major fetal abnormality and can be a normal finding in 1 to 2 % fetuses. It usually resolves as the pregnancy advances. However detailed fetal anomaly scan should be done to look for other abnormalities. Significant fetal abnormalities which can be associated with choroids plexus cyst include trisomy 18 and other features of this abnormality should be looked for on detailed scanning. Management will include history, examination investigations and counseling of woman. In history woman will be asked about any previous abnormal babies and any history of abnormal babies in the family. The results of serum screening will be reviwed If on ultrasound scanning other abnormalities like rocker bottom feet, Overlapping of digits, cardiac defects are seen patient can be offered invasive testing like amniocentesis to find the cause and to be able to predict prognosis. This can be a distressing situation for the couple and sympathetic counseling will be provided to them explaining the whole situation. They will be provided with information leaflets regarding fetal anomalies and invasive testing. A geneticist will be involved for counseling the couple. Further management will depend on results of investigations and wishes of the couple. If no other abnormality is found apart from single choroids plexus cyst woman will be reassured that this can be a normal finding and repeat scanning will be done in 4 weeks time to see whether it resolves or not. Further management will be same as low risk pregnancies in case of a single cyst. A normal vaginal delivery will be allowed in such cases and postnatally baby will be reviewed by a neonatologist and may advise cranial ultrasound and karyotyping. If however it is associated with other features of chromosomal abnormalities like trisomy 13 and invasive testing like amniocentesis also confirms the chromosomal abnormality patient will be counseled regarding the options of either terminating the pregnancy or conservative management. The final decision will be in collaboration with the wishes of the couple. In case she opts for termination of pregnancy she needs to be admitted and Prostaglandins will be administered in repeated doses. Patient will be counseled regarding recurrence risk in future pregnancies.
		Posted by Rani M. Sat Jan 29, 2005 08:18 am
Q;A 20 year old woman attends for anamoly scan at 20 weeks.The fetus is found to have a choroid plexus cyst. Discus the implications ( 8 marks). Justify your management ( 12 maeks) The woman is encouraged to attend the clinic with her partner or significant family member or friend.It is informed to her that there is a cyst seen in brain of fetus, which are neuroepithelial folds filled with fluid in the choroid plexus of lateral ventricle of brain. It is seen in 1% of routine second trimester scans.She is reassured that these are inconsequential in themselves and majority will resolve by 26-28 weeks spontaneously. Couple are reassured that there is nothing they have done to cause this. They are told as CPC are soft markers for chromosomal anamolies, she will need a detailed scan to look for other stuctural anamolies. An isolated choroid plexus cyst has an associated increase in risk of trisomy 18 by a factor of 9. Risk of Down syndrome is not higher and is same as age related..While in the presence of associated structural anamolies risk of chromosomal anamolies is higher and risk for trisomy 18 increases by a factor of 1800.She is further told about Trisomy 18 ( Edward syndrome) .95% of these babies miscarry and incidence is 1:8000 live births. Only 10% of babies reach age of 1 year that too with severe neurodevelopmental delay. There are other recognisable structural anamolies which may be detected in scan i.e. clenched fists, rockerbottom feet,overlapping fingers, increased nuchal translucency, cardiac, neural and skeletal anamolies, and IUGR.An appointment with a neonatologist may be arranged if couple wish to know neonatal implications. Information leaflets are provided and names and addresses of any support groups/ peer groups are provided.A consultation with a psychologist may be necessary. This may be a time of anxiety and psychological stress and therefore emotional support and sensitivity is necessary in dealing with her. A history is taked regarding her previous pregnancies, their outcomes, any history of chromosomal anamolies in the prevous babies or in the family.This will help in genetic counselling. An examination is done to look for date - size disparity in uterine size as IUGR is common in Trisomies. A detailed scan is done to look for other associated anamolies as described above. In the presence of an isolated choroid plexus cyst, she may be offered serum screening , serum hCG, AFP and unconjugated estriol all being low in trisomy 18.If all investigations are in normal range,repeat scan may be done at about 26 weeks as majority of CPC will resolve by 26-28 weeks. If there are other structural anamolies karyotyping is offered to her due to higher risk of chromosomal anamolies. Karyotyping may be done by amniocentesis, placental biopsy or fetal blood sampling. she is informed regarding inherent risk of fetal loss associated with these precedures being 0.5-1%, 1% and 2% respectively.She is told about the slight risk of failure of precedure and it may need to be repeated in that case. she is informed about small risk of false positivity in case of placental biopsy due to confined placental mosaicism. Her attitude towards the fetus is seen, whether she will like to continue this pregnancy even with fetal anamolies due to moral, ethical or religious issues . In this case there is no need to do karyotyping as they are all invasive precedures, have inherent risk of fetal loss and as she will like to continue the pregnancy as well.The pregnancy is monitored by serial growth scans due to increased risk of IUGR.Mode of delivery is vaginally unless there are obstetric indications for ceasarean section.Postpartum baby is examined by a neonatologist. In the event of death of the baby, bereavement counselling, proper burial are arranged. If couple desire to terminate the pregnancy, she is told about mid trimester termination of pregnancy in simple language. Appropiate information leaflets are given to her. Further appointments may be necessary before she may reach a decision.An appointment with geneticist is arranged to inform them regarding probability of recurrence in future pregnancies.
		Posted by Nibedita R. Sat Jan 29, 2005 08:39 am
Choroids plexus cyst is a fluid filled space in the choroid plexus. They are seen in about 1% of all second trimester ultrasounds. These cysts almost always resolve usually between 22nd and 26th week of gestation and are also found in healthy children and adults. Cyst itself is of no pathological significance and are not known to interfere with normal brain development or cause brain damage. However, presence of isolated choroid plexus cyst increases an individuals risk of Trisomy 18 upto nine folds (1 in 150-200). Maternal age related risk of Downs?s syndrome remains unaltered. Risk of chromosomal abnormality increases substantially in the presence of other sonographic abnormalities like increased nuchal translucency, early onset IUGR, various skeletal and craniofacial defects, gastrointestinal, cardiac and renal anomalies. 95% of foetuses with Trisomy 18 die before they are born. Of those born alive, about 90% die before one year of age. Children with Trisomy 18 have severe psycho development delay and have many physical birth defects. Management: The condition creates anxiety to the women and her partner. I will reassure her that this may be a normal ultrasound finding and most of these would resolve spontaneously by about 30 weeks of gestation. I will take a detailed personal and family history of chromosomal anomalies. If she has been already screened for downs syndrome, I will review the reports of serum screening. Trisomy 18 is associated with low MSAP, HSG and UE3. If not already screened, she would be offered a screening. The triple test can detect 85% chromosomal anomalies with a 9% false positive rate. A detailed anomaly scan has to be performed to look for defects that are most likely to be associated with Trisomy 18 like cleft lip, cleft palate, oesophageal atresia, omphalocele, rocker bottom feet, clinched fist, overlapping fingers, cardiac and renal anomalies or other soft markers like increased Nuchal Translucency (>6mm at 20weeks) and hyperechogenic bowel. If serum screening and anomaly scans are normal, risk of having a baby with chromosomal anomaly is not greater than age related risk which is considerably less at 20years of age. I will reassure her and the pregnancy would be managed like a normal pregnancy. An ultrasound scan at around 30weeks would be arranged to check whether the cyst is still present or has disappeared. If these are abnormal, karyotyping by amniocentesis would be offered which can detect chromosomal anomaly with 99% certainty. Being an invasive procedure, there is a risk of miscarriage of 1 in 200-300 cases. Other risks are foetomaternal haemorrhage or failed procedure. The couple?s attitude towards the affected foetus should be explored and termination of pregnancy offered if appropriate, including discussion of the methods and risks involved. If she is not keen for amniocentesis and/or wants to continue with the pregnancy, I will discuss that her care would involve a multidisciplinary team consisting of consultant obstetrician, neonatal surgeon, paediatrician, experienced midwife and specialist nurse. She will need counselling at each stage of pregnancy backed up by written information and helpline. Several appointments may be necessary, with frequent antenatal visits to monitor foetal growth by growth scan (IUGR is common), liquor volume (oligo/polyhydramnios) and progress of pregnancy. She should be delivered in a tertiary centre with a SCBU. Caesarean section indicated only for obstetric reasons. At delivery, neonatologist should check the baby to rule out oesophageal atresia before the baby takes oral feeding. She needs post natal counselling and should be given information regarding support group as well as parenting. Risk of having a Trisomy in future pregnancy is about 1%. She and her partner should be offered genetic Counselling.
		Posted by uma M. Sat Jan 29, 2005 09:49 pm
CPC in a fetus at 20weeks in a20 yr old women is unlikely to signify any pathology. CPC are cystic structures within choroid plexus filled with CSF. these can be uni/bilateral. It is a relatively common finding seen in 1% of scans at 20 weeks. This finding in many doesn\'t imply much.Most of these cysts resolve by 26 weeks.5% of cysts are assosiated with Trisomy 18.Presense of cyst increase age related risk by 10 fold. 1% of cysts are assosiated with other karyotypic abnormalities. In the absense of other structural abnormalities,karyotypic abnormalities,Bilateral and large >10mm this cyst is not assosiated with poor prognosis. No long term CNS problems or neurodevelopmental sequelae. 95% of foetuses with Trisomy 18 die inutero. Of those born alive, about 90% die within one year of age. Great majority of these fetuses have unusual strucrural abnormalities which can be found on USG.No increase in risk of Down\'s. Management involves explaining the nature of diagnosis to the couple, relive there anxiety by explaining the implications and prognosis. USG is to be performed to rule out other structural abnormalities. Thorough search for features suggestive of trisomy 18 are made.These include rocker borrom feet, cardiac abnormalities,abdomen wall defects, soft markers like sadalgap.micrognathia,nuchal thickening. I will rewiew serum screen reports if done. LOw serum beta hcg,AFP, U3E are sugestive of trisomy 18. presense of CPC increases the age related risk of trisomy 18 by 9.Risk for this women at 20 yrs will be low,is explained while counselling for karyotyping. Karyotyping is offered if there are other structural anomalies, soft markers, bilateral and >10mm cysts.In the absense of all these risk of trisomy 18 is equal to that of age related risk which is low at 20 yrs.Also performkaryotyping if couple requests Karyotyping is by amniocentesis.. Explain the women about risk with this procedure like pregnancy loss rate of 1%, Rh -sensitisation requiring anti -D ,infection, continious leak with oligoamnios and sequelae, fetal trauma, failure of culture. If karyotype is abnormal explain this to couple, explore there attitude towards the fetus and anonaly and offer TOP.If women wishes to continue involve neonatologist to give her prognosis for further decision making. If karyotyping is normal /not done , even if abnormal women wants to continue pregnancy there are no special precautions to be taken during either AN/in labour.Serial scans to record disappearense of cyst has to be done.This might increase the frequency of AN visits.AN monitoring for IUGR should be done. CS for obstetric indications. There are no specific neonatal interventions. neonatologist should see the baby after birth for any undiagnosed anomalies. Through out pregnancy these women require psychological support.Multidisciplinary care involving neonatologist, obstetrician counsellor, Midwife shold be given. If any karyotypic abnormalities found refer to genetic counselling, explain likely recurrence risk. Adequate counselling and verbal information should be backed up with written information. Give information about support groups.
		Posted by Sonali G. Mon Jan 31, 2005 08:19 am
choroid plexus cysts are echolucent well circumscribed structures found in choroid plexus. It is seen in 1% of routine 2nd trimester scans. It usually resolves spontaneously between 22-26 weeks gestation. Isolated findings of choroid plexus cyst (CPC) in this young girl is usually insignificant. It can be associated with chromosomal anamolies especially trisomy18. About 5% of CPC can be associated with Trisomy 18. About 71% of Trisomy 18 babies have choroid plexus cyst along with other abnormalities like overlapping fingers, micrognathia or rocker bottom feet. The size or number or nature of the cyst doesnt effect the outcome. But its appearance on the scan can create unnecessary anxiety and apprehension amongst the couple. History of any congenital anamolies in the family or previous pregnancies is important as it may change her background risk. Her results of serum screening should be taken into account before assessing her risk for chromosomal anamolies in this case. Since she is only 20 years old and if there is no significant history and there is no other abnormalities or soft tissue markers on the scan, she can be reassured and further testing in the form of amniocentesis (with its inherent risk of miscarriage ~1%) is not warranted. But if there are other markers or abnormality, she should be referred to a tertiary centre for a detailed scanning and then aminocentesis to rule out chromosomal abnormality. If trisomy 18 is diagnosed, she should be offered termination of pregnancy ( with methods and risks involved) as Tri18 is associated with high perinatal mortality . She should be given detailed information about the problems associated with trisomy 18 baby. And after understanding and accepting all sequele , if she wants to continue with the pregnancy she shoulld be given continous support and should be provided with the details of the support groups. She will have frequent antenatal visits and serial scans to look for growth retardation or polyhydramnios. She would be counseled antenatally by paediatrician to explain her to how to cope with neonatal problems of her baby.. Aim is for vaginal delivery. Caesarian section is reserved for obstetric indication. She should be delivered in a unit with all the facilities of neonatal resuscitation. She should be offered genetic counseling and should be told about the recurrence risk. Her management involves multidisciplinary input involving obstetricians, midwives , paediatrician,genetist and radiologist.
		Posted by SWATI M. Mon Jan 31, 2005 01:37 pm
Choroid plexus cyst resolves on it?s own in most cases by 24-26 weeks of pregnancy and has no adverse effects on fetus .It does not afeect fetal growth or brain development.But there is a small risk of fetus having aneuploidy and may be associated with trisomy 18.Babies affected with trisomy 18 have multiple structural anomalies such as cardiac,cranifacial anomalies,abdominal wall defect and potentially serious disorder. Affected pregnancies have increased risk of to miscarry .Affected fetuses only about 10%will survive 1st year with profound development delay and learning disability.Risk of trisomy 21 due to the presence of isolated choroids plexus cyst is not changed and remains same for the age . Finding of CPC will cause maternal anxiety and psychological stress.along with psychological morbidity,physical morbidity also increases due to need for invasive diagnostic procedure such as amniocentesis.For the fetus in most cases outcome is good but increases perinatal morbidity and mortality if associated with trisomy 18. For the management of this woman,explain presence of the CPC and it?s nature.She should be informed that the cyst is normal neuroepithelial folds which is filled with cerebrospinal fluid.Discuss implications in details as above with her and preferably involving her family.She would be anxious and detail explaination with provision of written information would be better.Review ultrasound scan report for presence of any associated structural anomalies and arrange for detailed scan to look for cardiac,craniofacial anomalies,abdominal wall defect and soft markers such as club foot,sandle gap,increased nuchal thickness.Review biochemical screening results of uE3 ,hCG ,MSAFP levels.The levels of all markers will be low in trisomy 18.Offer karyotyping by amniocentesis if biochemical screening/ structural anomalies suggestive of increased risk of trisomy 18 or it may be requested by perents.Information regarding amniocentesis should be provided to the woman .The procedure would be performed under Ultrasonographic guidance as it increases success rate and minimizes chances of bloody tap.The procedure has risk of having miscarriage rate at about 1% and increases risk of fetomaternal haemorrhage.If mother is rhesus negative and non sensitized,she should be given 250IU of anti-D immunoglobulins. If abnormal karyotyping is detected,woman should be given options of continuation or termination of pregnancy and her views are taken into account in management.If termination of pregnancy is requested,arrangement are made .If pregnancy is continued,continuous support is provided. If karyotyping is normal,routine antenatal and intrapartum care is provided.
		Posted by Iman B. Tue Feb 1, 2005 12:32 am
The possibility of a choroid plexus cyst(CPC) with an underlying trisomy 18(T18) is not common in a 20 year old, if there is no previous history of a child or first degree relative with this syndrome. The incidence increases eight fold if the family or past history is positive. The majority of CPCs are irrelevant spontaneously dissapearing by the end of the second trimester. They leave no neurodevelopmental impairment. On first scan a CPC will mean a detailed rescan, and if there are further ultrasound markers of T18 as rockerbottom feet, cardiac anomalies(as VSD) renal anomalies, clenched fist, omphalocele, meningeocele, the likelihood of T18 increases. Maternal levels of estrogen E2, alfa feto protein AFPand human chorionic gonadotrophin HCG are usually lower than the multiple of the mean for that gestation, and amniocentesis followed by karyotyping is confirmatory. T18 has a poor prognosis, over 60% miscarry before the end of the second trimester, there is severe mental impairment and the mortality rate is high with 90% dead before the end of the first year. On detecting a solitary CPC. the woman is booked for another detailed scan with an experienced senior obstetrician or radiologist. A meticulous search for other ultrasound markers of T18 are made. In the absence of any markers the patient is reassured, the CPC will likely resolve without any neurodevelopmental impairment to the child before the end of the second trimester, no further anomaly scans are necessary. If there are positive ultrasound markers, then maternal serum is taken to check for the levels of AFP, E2, and HCG, lower levels than normal, the patient is counselled on the high likelihood of her baby having T18. Her history is gone through again for any past or family history of congenital anomalies. she is offered an amniocentesis, and karyotyping for confirmation. If Trisomy 18 is diagnosed, then, she should know that more than 60% will miscarry before the end of the second trimester, and the poor survival rate of the baby\'s neonatal period with ten percent dying by the first month and over ninety percent dead before the end of the first year. She should be given information on the chromosomal anomaly along with contact numbers of special help groups. If she wishes for termination then the bishop score is elicited and accordingly, prostaglandin and or oxytocin are used for termination of pregnancy. If she wishes to continues the pregnancy, this is a high risk pregnancy, where there is a high incidence of polyhydramnios, hydrops fetalis, and abruptio placentae subsequent to the hydramnios. An attempt to deliver the baby vaginally should be made, and the senior neonatologist should be notified before to attend the delivery. There is a high likelihood of meningeocele and omphalocele, as well as renal and cardiac anomalies. Subsequent pregnancies may call for chorion villus sampling or amniocentesis as there is an increased incidence of recurrence.