Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study.

OBJECTIVES: To evaluate the the diagnostic yield of chromosomal microarray analysis (CMA) in fetuses with isolated CPC (iCPC). METHODS: A total of 315 fetuses with iCPC (iCPC group) and 364 fetuses without abnormal ultrasound findings (control group) were recruited between July 2014 to March 2018. RESULTS: The overall diagnostic yield of chromosomal abnormalities by CMA and karyotyping in iCPC group was up to 4.1 %, higher than 1.4 % in the control group, p < 0.05. The detection rate of pathogenic or likely pathogenic copy number variants (CNVs) with clinical significance by CMA in iCPC group (1.3 %) was higher than in control group (0 %), p < 0.05. According to the type of chromosome abnormalities, the missed diagnosis rate of non-invasive prenatal testing (NIPT) was 1.6 % in our study. CONCLUSIONS: The presence of iCPC on ultrasound examination suggests a potential indication for genetic counseling. Karyotyping and chromosomal microarray analysis may be considered for fetuses with iCPC. It is important to be aware of the limitations of non-invasive prenatal testing, as there is a possibility of residual risk.

Symptomatic intraventricular choroid plexus cysts. Illustrative case and systematic review.

Although choroid plexus cysts are a frequent incidental neuroimaging finding, symptomatic ones are rare-a series of more than five cases are hard to find. In the absence of high-volume studies, there are no generally accepted algorithms for diagnosis and treatment for this pathology. Proposed surgical techniques include microsurgical excision or fenestration and endoscopic excision or fenestration with or without additional shunting. No definitive conclusions exist about the superiority of a certain technique. Here, we introduce an illustrative case of a patient with a symptomatic choroid plexus cyst in the trigone of the lateral ventricle and a systematic review of 65 additional published cases with the aim of identifying epidemiological features, variants of localization of the cysts, their symptoms, persistence of concomitant obstructive hydrocephalus, and treatment modalities. A PRISMA-based literature search was performed on the PubMed, MEDLINE, Scopus, and Web of Knowledge databases. We include in the review case reports and case series of symptomatic choroid plexus cysts with full texts or valuable abstracts available online in English and published by April 2023. All abstracts of retrieved studies were assessed by two independent researchers to avoid bias. Only descriptive statistics were used for the presentation of the results. A total of 48 studies (39 case reports and 9 case series) with 65 depicted cases met the eligibility criteria. The review showed a slight predominance of choroid plexus cysts in men. The most common localizations of cysts were the trigone and the body of the lateral ventricle. Obstructive hydrocephalus is often present in patients with choroid plexus cysts. The most common symptoms of cysts were signs of increased ICP: headaches and vomiting. The main treatment approaches for symptomatic choroid plexus cysts were microsurgical excision, microsurgical fenestration, endoscopic fenestration, and total endoscopic excision. The tendency has been noted to shift from microsurgical to endoscopic procedures over the past two decades. Some data on the classification of cysts of the central nervous system and the underlying mechanisms of the pathogenesis of choroid plexus cysts are also presented.Although symptomatic cases of choroid plexus cysts are rare, by summarizing currently available data, one could clarify their common features and identify a preferable treatment modality.

The Course and Neonatal Outcome of Choroid Plexus Extension to the Anterior Horn at the Routine Anatomy Scan.

OBJECTIVES: Our objective was to examine the pregnancy course and immediate neonatal outcome of fetuses with an isolated extension of choroid plexus (CP) to the anterior horn during the second trimester. METHODS: We prospectively collected the cases referred to us between July 2012 and January 2021 with isolated finding of CP extension to the anterior horn. Relevant clinical and demographic information was recorded, and a full anatomy scan including a comprehensive neurosonogram was performed. In cases of confirmed isolated extension of CP to the anterior horns, women were offered further investigation including fetal MRI, and ultrasound follow up. RESULTS: We collected 29 eligible cases for analysis. The mean gestational age (GA ± SD) for diagnosis and referral was 19.24 ± 2.3 weeks. No other intracranial anomalies were detected in any of the cases, and the finding resolved at 25 ± 2.6 weeks. The average extension length and width to the anterior horn were 0.7 ± 0.3 cm, and 0.5 ± 0.1 cm, respectively. Eleven fetuses (38%) had choroid plexus cyst (CPC) in addition to the extension. Ten patients (35%) completed a fetal brain MRI, with no identified abnormalities. Gross neurological exam and Apgar score at birth were normal. CONCLUSION: Extension of CP to anterior horn with or without CPC at mid-trimester seems to have spontaneous resolution with likely a good prognosis and no further implications.

Metabolic characterization of amniotic fluid of fetuses with isolated choroid plexus cyst.

OBJECTIVES: To investigate the amino acid (AA)-related metabolic characteristics of amniotic fluid (AF) obtained by ultrasound-guided amniocentesis from fetuses with isolated choroid plexus cysts of the central nervous system. METHODS: Ultrasound-guided amniocentesis was performed on 17 fetuses with isolated choroid plexus cysts (ICPCs) and 17 normal fetuses. The AF samples from normal pregnancies were matched with the case samples in a 1:1 ratio based upon gestational age. The AF samples from the 34 fetuses were analyzed by liquid chromatography-mass spectrometry (LC-MS). Then, the peak areas of the metabolites were analyzed by principal component analysis (PCA), partial least squares discriminant analysis (PLS-DA) and univariate statistical analysis. RESULTS: This study ultimately identified 31 AAs. Seven differentially abundant AAs were screened out, including citrulline, ethanolamine, aspartic acid, valine, 5-hydroxylysine, proline, and isoleucine (p-value<0.05). A total of 4 metabolic pathways were significantly altered in the ICPC group: valine, leucine and isoleucine biosynthesis; valine, leucine and isoleucine degradation; pantothenate and coenzyme A (CoA) biosynthesis; and arginine biosynthesis. CONCLUSIONS: The results of this study indicate that fetuses with ICPC have disrupted levels of citrulline, ethanolamine, aspartic acid, valine, 5-hydroxylysine, proline, and isoleucine, which may ultimately affect fetal glucose and lipid metabolism.

Choroid plexus cyst causing acute hydrocephalus and transtentorial herniation: report of a rare case and its successful neuroendoscopic treatment.

Choroid plexus cysts (CPC) are a frequent incidental neuroimaging finding and completely asymptomatic in the vast majority of cases. We hereby describe a rare case of acute hydrocephalus secondary to a CPC, atypical in size, location and presentation, which required urgent neuroendoscopic management. There are very few reported cases of CPC causing obstructive hydrocephalus. The authors present the case of a previously healthy 2-year-old boy with severe symptoms of acute intracranial hypertension, triventricular hydrocephalus, and left ventricle exclusion after placement of a right external ventricular drain. Magnetic resonance imaging (MRI) showed a very subtle gadolinium enhancement in the anterior region of the third ventricle and foramen of Monro (FM). An emergency neuroendoscopic exploration was performed, where a big cyst was found in the choroid plexus near the FM. The foramen was completely unblocked by thoroughly fenestrating and coagulating the cyst, and a preventive endoscopic septum pellucidotomy was done in the same procedure. The patient completely resolved his symptoms, without neurological morbidity or requirement of a cerebrospinal fluid shunt placement. It is important to consider this infrequent presentation in cases of acute or intermittent obstructive hydrocephalus without apparent cause, bearing in mind its difficult detection in neuroimaging studies and the possibility of effective neuroendoscopic treatment.

A Bayesian risk analysis for Trisomy 21 in isolated choroid plexus cyst: combining a prenatal database with a meta-analysis.

OBJECTIVE: The purpose of this study was to quantify the possible additional risk of a fetus with an isolated choroid plexus cyst (ICPC) for Trisomy 21 by combining a large controlled cohort study with data from existent studies. METHODS: We searched our prenatal database between 2000 and 2014 for all singleton pregnancies between 18 + 0 and 26 + 6 gestational weeks with either an isolated choroid plexus cyst (study group) or no abnormality found in the detailed ultrasound scan (control group). We assessed all prenatal karyotyping results if invasive testing was performed and attempted to collect the postnatal outcome reports of all patients. The prevalence of Down syndrome was calculated. By using previous studies that met our inclusion criteria, a meta-analysis following the Bayesian Independent Model was created. From this meta-analysis, we computed the posterior predictive distribution of the probability (Trisomy 21 | ICPC) = P1 including posterior means, standard deviations, quantiles (2.5, 50, and 97.5%). By calculating the posterior of the difference (Δ) between the probability (Trisomy 21 | ICPC) and the probability (Trisomy 21 | Normal Ultrasound) = P2, we investigated the additional risk of an ICPC (ΔB = P1-P2). RESULTS: Overall, we detected 1220 fetuses with an isolated plexus cyst at 19-27 weeks of gestational age (GA). In our study group, the prevalence of Trisomy 21 was 2/1220 (0.16, 95% CI: 0.1-0.6%). The median of the pooled probability of Trisomy 21 given isolated PC across the studies included in the meta-analysis was 0.2% (CI: 0.1-0.4%). In the given periods (GA and time), 66,606 (74.8%) out of 89,056 investigated fetuses met the inclusion criteria and had a normal ultrasound result without any abnormality. The Δ between our study group and the control group was 0.08% (CIΔA: 0-0.5%). Including the meta-analysis, the median of the posterior distribution of Δ between P1 and P2 was 0.08% (CIΔB: 0-0.4%) (ΔB = P1-P2). CONCLUSION: The posterior distribution of Δ between P1 and P2 including the meta-analysis corresponds to showing no difference between the cases and controls (95% CIΔB: 0-0.4%). The additional risk of a fetus with an ICPC for Trisomy 21 is 97.5% likely to be lower than 0.4% (about 1/250). However, in our collective, the positive predictive value of ICPC for Down syndrome was 0.16% (about 1/625). In prenatal counseling, the additional risk should be added to the individual risk (based on maternal age, earlier screening test results, and sonographic markers) and the diagnostic options including fetal DNA and diagnostic procedures should be discussed according to the posterior individual risk.

Giant choroid plexus cysts with calvarial erosion: a case report and literature review.

Choroid plexus cysts rarely grow to be symptomatic. Few large choroid plexus cysts have been reported in the pediatric population. The authors report a 15-month-old boy with increased head circumference and a bony deformity in the left parietal region due to mass effect from a giant choroid plexus cyst. The child had a craniotomy for open resection of the cyst, and made an excellent recovery. The differential diagnosis for intraventricular cysts and the literature surrounding choroid plexus cysts are discussed.

Intracranial ectopic choroid plexus cyst in a dog.

A 4-year-old male Toy Poodle was presented with a history of status epilepticus. On presentation, neurological examination revealed a delay in postural reactions in the right pelvic limb. Magnetic resonance imaging showed a fluid-containing cystic lesion that compressed the mesencephalon, hippocampus, and amygdala. The cyst was surgically removed via left rostrotentorial craniotomy. The final diagnosis was an intracranial ectopic choroid plexus cyst. The patient has remained free of seizures for 18 months after surgery. This is the first case report of an intracranial ectopic choroid plexus cyst that was surgically removed in a dog.

[Relationship between the choroid plexus cyst and the aneuploidy].

Objective: Using the method of the ultrasound and the noninvasive DNA to find the relationship between the choroid plexus cyst and the aneuploidy, and to provide the meaningful data for prenatal consultant. Methods: A total of 112 cases, that the gestational age were between 13 and 20 weeks, which were diagnosed with choroid plexus cyst in the Department of Gynecology and Obstetrics of the Second Hospital of Jilin University from January. 2016 to July. 2017 were tested by ultrasonography. They all accepted the noninvasive DNA. At the same time, a total of 100 normal fetuses were randomly involved in the control group by the combination of gestational age and the age of the pregnant woman, all of them had taken the non-invasive DNA examination and followed up until the birth. Those fetuses who combined with other malformations were induced labor in the two groups. If the results of noninvasive DNA indicated the high-risk, invasive examination for karyotype analysis were recommended. If the results were aneuploidy, they chose induced labor. The rest cases followed up until the birth. Results: Five cases of the 112 fetuses in the case group were found with obvious malformation (3 of them were found in the early trimester, 2 of them were found in the middle trimester). The numbers of high risk results of noninvasive DNA were 7, and 5 of them underwent the invasive karyotype analysis. When the aneuploidy had diagnosed definitely, induced labor had been taken. One case was found to be the aneuploidy in the control group, and took the induced labor. One case was diagnosed as right side aortic arch by ultrasound in the control group, with a good prognosis. The other cases were followed up until the birth with a good prognosis. Conclusions: (1)In the early trimester, the fetus with choroid plexus cyst has an increasing risk of aneuploidy. (2)When the maximum diameter of choroid plexus cyst is less than 1 cm and the cyst was single, most of them could disappear in the middle trimester, it has no effect on the fetus. (3)Noninvasive DNA test has a high accuracy, which can improve the positive rate of invasive examination.

Prenatal Diagnosis of Choroid Plexus Cyst: What Next?

INTRODUCTION AND OBJECTIVE: Fetal choroid plexus cysts (CPC) are often detected on prenatal ultrasounds and pose a need to formulate protocol for management and counseling. METHODOLOGY: A total of 1024 unselected cases between gestational ages 11 and 20 weeks were sonologically screened for CPC in 1-year period. On ultrasound, CPC are seen as sonolucent spaces in the echogenic choroid plexus of lateral ventricles of brain measuring at least 2-3 mm in diameter. Those diagnosed with CPC were subjected to thorough anomaly scan. Prenatal karyotype was offered in cases of associated anomalies. RESULTS: The incidence of CPC is 1% (10/1024) in this study. Associated anomalies were found in 20% (2/10) of cases, which were offered invasive testing for fetal karyotype. All the cases with isolated CPC had good outcome. CONCLUSIONS: Isolated CPC with low-risk biochemical screening for aneuploidies are now considered normal variants rather than a pathology, need no invasive testing and carry a good prognosis. CPC associated with other anomalies warrant invasive testing and are more likely to be associated with Trisomy 18.

A case of a mobile choroid plexus cyst presenting with different types of obstructive hydrocephalus.

BACKGROUND: Although it is well known that most choroid plexus cysts (CPCs) are asymptomatic, previous studies have reported that they can infrequently cause progressive hydrocephalus along with their increasing sizes. Among those cases, some patients needed cyst fenestration or cerebrospinal fluid (CSF) diversion to recover neurological deterioration. Meanwhile, some CPCs revealed spontaneous resolution, and in rare cases, they developed re-accumulation. Some reports have described series of radiological findings about their changes in location. CASE DESCRIPTION: We present a 47-year-old male with CPC manifesting obstructive hydrocephalus. Radiological findings of the lateral and the third ventricles changed along with their different obstructive points, leading to their own symptoms. Because the patient's symptoms were not resolved completely, he underwent endoscopic fenestration for the cyst at the third ventricle. We could perform near-total resection, resulting in recovery of normal CSF flow. Postoperatively, the size of the ventricles decreased, with histological confirmation of a CPC. His symptoms resolved clearly without any complications. CONCLUSIONS: It seems quite unusual that shift of the CPC location in the ventricle systems could induce not only different types of hydrocephalus but also their own symptoms. We need to consider that the location of CPCs might change when patients present with fluctuating symptoms over time.

A choroid plexus cyst in the fourth ventricle of a Sprague-Dawley rat.

Choroid plexus cysts are rare lesions in the brain and are reported in humans and dogs. Herein, we report a choroid plexus cyst found in a 10-week-old female Sprague-Dawley rat. Histologically, a cyst measuring approximately 600 µm in diameter was found in the fourth ventricle of the brain. The cyst was lined with a single layer of flattened cells and was present in the connective tissue of the choroid plexus. Next to the cyst, a dilated tube was found with a similar morphology to the epithelium of the choroid plexus. Immunohistochemistry revealed that flattened cells lining the cyst were positive for cytokeratin and vimentin, and negative for GFAP and S-100, which is the same as in the normal choroid plexus, excluding vimentin. We diagnosed the present cyst as a spontaneously occurring choroid plexus cyst that was considered to be undergoing the epithelial-mesenchymal transition.

Incidental findings on brain and spine imaging in children.

In recent years, the utilization of diagnostic imaging of the brain and spine in children has increased dramatically, leading to a corresponding increase in the detection of incidental findings of the central nervous system. Patients with unexpected findings on imaging are often referred for subspecialty evaluation. Even with rational use of diagnostic imaging and subspecialty consultation, the diagnostic process will always generate unexpected findings that must be explained and managed. Familiarity with the most common findings that are discovered incidentally on diagnostic imaging of the brain and spine will assist the pediatrician in providing counseling to families and in making recommendations in conjunction with a neurosurgeon, when needed, regarding additional treatments and prognosis.

47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly: A case report / 대한산부인과학회지

47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.

A Case of Edward Syndrome with Choroid Plexus Cyst / 대한산부인과학회잡지

Trisomy 18 is the second most common chromosomal anomaly which reach to live birth next to Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels of total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol or free beta hCG with AFP, but the serum screening has only 67% detection rate with a 7.2% of false positive rate. Therefore, in order to overcome the limitations which the serum markers have, detailed ultrasound examination is also necessary and sensitivity of 80% was reported. We report a case of Trisomy 18 fetus in which choroid plexus cyst was the only abnormal sonographic finding.

A Significance of Fetal Choroid Plexus Cysts / 대한주산의학회잡지

OBJECTIVE: Choroid plexus cysts(CPCs) are commonly found at a routine ultrasonography. There is, however much debate as to their clinical significance. The aim of this study were to estimate the prevalence of CPCs associated with aneuploidy and to establish the guidelines for prenatal management and parental counseling. METHODS: Between January 1996 and December 2001, 10,917 women who underwent the secondtrimester USG at Asan Medical Center, of them CPCs were noted in 168 fetuses; there were 85 cases of isolated CPCs and 83 cases of the high risk group. All women whose fetuses were diagnosed as having CPCs underwent the targeted USG for survey of the detailed anatomy and followed with the repeat USG after 3-4weeks. We analysed the association of chromosomal abnormality and CPC, according to the size, bilaterality, and shape. RESULTS: The incidence of CPCs was 1.60%(175/10917). The gestational age of the first detection of CPCs was 21.0+/-3.8(mean+/-SD). In the isolated CPCs(85cases) all case except one resulted in normal karyotyping. In the high risk group(83cases), eighteen of trisomy 18, and two of trisomy 21 were detected. Almost all of them had other structural abnormalities on USG. The chromosomal abnormalities was significantly related with CPCs when CPCs are large(>or=10mm), bilateral, and irregular shape. CONCLUSION: The risk of chromosomal abnormalities is elevated when CPCs are associated with other structural abnormalities on USG. Therefore it is recommendable that the fetal chromosomal analysis to be performed, based on the presence of associated abnormal findings on USG, maternal age, and results of the double marker test.

Follow-up Study of 119 cases of Fetal Choroid Plexus Cysts in the Second Trimester: Associated with Trisomy 18? / 대한산부인과학회잡지

OBJECTIVE: To evaluate the clinical significance of fetal choroid plexus cysts (CPCs) in the second trimester, especially an association with trisomy 18. METHODS: From March 1998 through June 1999, second trimester screening ultrasonography was performed on 4,948 unselected single-ton pregnancies. CPCs were noted in 132 fetuses. Among them, detailed ultrasonography and follow-up was possible in 119 cases and they were recruited into the study. There were 91 cases of isolated CPCs and 28 cases of CPCs in high-risk population. "Isolated CPCs" were defined as: mother did not have any risk factors requiring amniocentesis and there were no other sonographic abnormalities on detailed ultrasound. "CPCs in high-risk population" were defined as: mother had any risk factor requiring karyotyping or there were any other sonographic abnormalities although she was general population. Amniocentesis was performed in 39 cases. We compared gestational age at time of detection, size, bilaterally, multiplicity, and complexity of CPCs in the group of isolated CPCs and CPCs in high-risk population (t-test, chi-square test; P0.05). Mean size (6.4 vs 6.2 mm), bilaterality (60% vs 57%), multiplicity (66% vs 57%), and complexity (8% vs 14%) of CPCs were also similar. All CPCs were disappeared irrespective of size and mean time of disappearance was 25+/-3 and 26+/-3 week, respectively (p>0.05). All cases of isolated CPCs resulted in phenotypically-normal neonates. It was confirmed by either amniocentesis or postnatal examination by the pediatrician. Among fetuses having CPCs in high-risk population, two trisomy 18 and one trisomy 21 were detected. All of them had positive result of maternal serum marker test and/or sonographic abnormalities. Remaining cases were proved normal. CONCLUSION: The risk of chromosome abnormalities is very high when CPCs are associated with other abnormalities on detailed ultrasound, indicating a clear need to offering genetic amniocentesis. As contrast, the risk of chromosome abnormalities for a case of isolated CPCs is very low, and in this series there was no trisomy 18. Therefore isolated CPCs should be considered as the indication of detailed ultrasound examination, but not routine karyotyping.

A Symptomatic Choroid Plexus Cyst in the Lateral Ventricle: Case Report

The authors report a case of symptomatic choroid plexus cyst, located in the trigone of the left lateral ventricle in a 18-year-old man who presented with headache and seizure attack. The cyst was diagnosed by magnetic resonance image(MRI), and was confirmed with surgery. The cyst had no communication with the ventricular system orsubarachnoid space. Total removal of cyst adhering to the choroid plexus was accomplished, with subsequent disappearance of the seizure and headache. A brief review of the literature is included.