Choroid Plexus Cysts Research Articles

Cranial ultrasound for beginners.

Cranial ultrasound (CUS) is an extremely valuable tool to evaluate the brain during the first year of life, in experienced hands. It is the initial screening imaging tool to evaluate the infants’ brain and complementary to the use of computed tomography (CT) and magnetic resonance imaging (MRI). It is an accessible, inexpensive and harmless technique that can be used bedside as frequently as needed. The aim of this article is to provide a guide for beginners about the indications, basic technical parameters, scanning technique, standardized planes, common variants and the most frequent abnormal findings visualized with this technique. This article will explain a systematic technique to adequately visualize and document all the relevant intracranial structures, using the anterior fontanelle, mastoid fontanelle and Doppler ultrasound. The variants described in this review include the normal sulcation of the premature baby, the peritrigonal echogenic “blush”, lenticulostriate vasculopathy (LSV), benign enlargement of the subrarachnoid space in infancy, asymmetric lateral ventricles, connatal cysts, cavum septum pellucidum (CSP), cavum vergae (CV), cavum velum interpositum, megacisterna magna and choroid plexus cysts. This article will describe the sonographic appearance of different types of intracranial hemorrhage of the preterm and term baby, periventricular leukomalacia (PVL), central and peripheral hypoxic-ischemic events of the term baby, neonatal arterial infarction, cerebro-venous sinus thrombosis, congenital and neonatal cerebral infections, hydrocephalus, intracranial solid and cystic masses, and congenital brain malformations.

Migrating Lateral Ventricle Choroid Plexus Cyst into the Fourth Ventricle Causing Acute Hydrocephalus

AbstractChoroid plexus cysts consist of abnormal folds of the choroid plexus that typically resolve prior to birth. Rarely, these cysts persist and may cause outflow obstruction of cerebrospinal fluid. In this article, we presented a 5-month-old male child patient who presented with lethargy, vomiting, and a bulging anterior fontanelle. Magnetic resonance imaging showed one large choroid plexus cyst had migrated from the right lateral ventricle through the third ventricle and cerebral aqueduct into the fourth ventricle causing outflow obstruction. The cyst was attached to the lateral ventricle choroid plexus by a pedicle. The cyst was endoscopically retrieved from the fourth ventricle intact and then fenestrated and coagulated along with several other smaller cysts. Histologic examination confirmed the mass was a choroid plexus cyst. The patient did well after surgery and did not require any cerebrospinal fluid diversion. Nine months after surgery, the patient continued to thrive with no neurological deficits. This case is the first we have found in the literature of a lateral ventricular choroid plexus cyst migrating into the fourth ventricle and the youngest of any migrating choroid plexus cyst. Only three other cases of a migrating choroid plexus cyst have been documented and those only migrated into the third ventricle. New imaging advances are making these cysts easier to identify, but may still be missed on routine sequences. High clinical suspicion for these cysts is necessary for correct treatment of this possible cause of hydrocephalus.

Cranial ultrasonographic screening findings among healthy neonates and their association with neurodevelopmental outcomes

To analyze the findings of cranial ultrasonographic screening in asymptomatic neonates and to assess the association between abnormal results and neurodevelopment. We retrospectively reviewed the cranial ultrasonographic screening results of healthy neonates born between 35 and 42 weeks gestation at our hospital from October 2011 to October 2018. In total, 11,681 neonates underwent cranial ultrasonographic screening during the study period, and 9666 (82.7%) had normal results. Of 2015 neonates with abnormal findings, 294 had more than two abnormalities. The most common minor findings were subependymal cysts (8.99%), choroid plexus cysts (2.43%), lenticulostriate vasculopathy (2.34%), frontal horn cysts (1.80%), and enlarged cisterna magna (1.04%). Then, 33 (0.28%) neonates had major abnormalities, including cerebral hemorrhage, periventricular heterotopia, focal cortical dysplasia, anomalies of the corpus callosum, and vascular malformation. Of 1334 neonates who underwent serial clinical evaluations, 76 (5.69%) had neurodevelopmental disorders, including developmental delay, attention-deficit/hyperactivity disorder, and autistic spectrum disorder. The incidence rate of intracranial anomalies in healthy neonates was 17.3%, and about 5.69% had neurodevelopmental disorders. Cranial ultrasonographic screening has its own value in helping early detection of intracranial anomalies in healthy neonates, some of which have prognostic implications.

Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study

Soft markers are nonspecific findings detected by ultrasonography during the second trimester that are often transient and nonpathologic but may imply an increased risk of underlying fetal aneuploidy. However, large-scale prospectively stratified studies focusing on the prevalence of chromosomal aberrations, including copy number variants, in fetuses with different types of isolated soft markers have rarely been published in the literature. This study aimed to investigate clinical outcomes in fetuses with isolated soft markers by single nucleotide polymorphism array with long-term follow-up and to propose a diagnostic algorithm based on specific types of soft markers. The prevalence of fetal isolated soft markers was 13.2% (7869 of 59,503). A total of 2466 fetuses with ultrasonographic soft markers during the second trimester, which were subjected to single nucleotide polymorphism array with long-term follow-up, were selected in this prospective study over a 5-year period. Soft markers were categorized into 12 groups. The demographic profile and chromosomal microarray analysis detection results were analyzed and compared among different groups. The overall prevalence of chromosomal aberrations in fetuses with soft markers was 4.3% (107 of 2466), which comprised 40.2% with numeric chromosomal abnormalities, 48.6% with pathogenic copy number variants, and 11.2% with likely pathogenic copy number variants. The incidence of numeric chromosomal abnormalities was significantly higher in multiple soft markers (5.5% vs 1.5%; P=.001) and the thickened nuchal fold group (8.3% vs 1.7%; P=.024). Meanwhile, the incidence of pathogenic copy number variants was significantly higher in multiple soft markers (5.5% vs 2.4%; P=.046) and the short femur length group (6.6% vs 2.2%; P<.0001). The incidences of pathogenic copy number variants in fetuses with isolated echogenic intracardiac focus, enlarged cisterna magna, choroid plexus cysts, echogenic bowel, or single umbilical artery were lower than 1.5%. The normal infant rate in fetuses without chromosomal aberrations was 91.7%; however, it was significantly lower in the mild ventriculomegaly (86.2% vs 93.0%; P<.0001) and short femur length groups (71.4% vs 93.6%; P<.0001). The potential chromosomal aberrations and clinical prognoses varied widely among different types of isolated soft markers. Pathogenic copy number variants are more often present in specific softmarkers, especially when multiple soft markers are found. Thus, a specific soft marker type-based prenatal genetic testing algorithm was proposed.

Efficacy of Genetic Sonogram For Predicting Aneuploidy In a High-Risk Pregnancy Population

AİM: This study evaluates the efficacy of genetic sonogram for predicting aneuploidy in high-risk pregnancies. METHODS: This retrospective study included 1363 pregnant women who underwent a second trimester genetic sonogram due to high-risk pregnancy. Sensitivity, specificity, odds ratio, (+) and (-) likelihood ratios were calculated for each of the ultrasonography markers. RESULTS: Among the high-risk pregnancy study population, there was no significant difference regarding advanced maternal age, presence of a relative with Down Syndrome, history of anomaly in the previous pregnancy, hyperechogenic bowels, pyelectasis, nuchal fold thickness &amp;gt; 5 mm, ventriculomegaly, choroid plexus cyst, single umbilical artery, or presence of right echogenic intracardiac focus between the control and aneuploidy groups (p&amp;gt;0.05). Tricuspid regurgitation, hypoplasia/absence of nasal bone, short femur, short humerus and left echogenic intracardiac focus were associated with increased risk of aneuploidy (p&amp;lt;0.05). The risk of aneuploidy was increased by 14.45 fold (95% CI 2.90-71.85) in cases with tricuspid regurgitation, 18.01 (5.46-59.32) fold by hypoplasia/absence of nasal bone, 9.74 (3.70-25.65) fold by presence of short femur, 11.42 (4.30-30.30) fold by presence of short humerus, and 4.20 (1.39-12.64) fold with the presence of left echogenic intracardiac focus. Analysis of combined markers showed that hypoplasia/absence of nasal bone + short humerus + tricuspid regurgitation resulted in the highest risk (OR = 11.20, LHR = 7.53). CONCLUSION: İn some countries, where NIPT are not thoroughly diffused,Genetic sonography is recommended for Down syndrome risk modification in high-risk pregnancies.

Review of fetal choroid plexus cysts: A cross-sectional study on 9244 pregnant women

Aim: It was revealed in many studies conducted on unselected populations that the size, bilaterality and number of choroid plexus cysts (CPCs) are correlated with various degrees of aneuploidy risk. This article deals with the natural history and significance of numbers, sizes and bilaterality of CPCs in a selected population. Methods: This cross-sectional study was conducted on 9244 pregnant women attending to our department between March 2014 and March 2018. After exclusion criteria was applied, 87 patients with isolated CPCs remained. All records of the patients were screened and needed data were recorded. Results: A total of 9244 prenatal sonographies had been performed during this period. Isolated CPC was detected in 87 fetuses. CPCs were visualized unilaterally in 83 cases (95.4%) and bilaterally in 4 cases (4.6%). Among 83 unilateral cases, 45 had left sided (51.7%) and 38 had right sided CPCs (43.7%). The size of the cysts ranged between 3 mm to 5.1 mm with an average of 3.51 (0.06) mm. Double tests (n=24) and quadruple tests (n=63) had 2 and 5 abnormal results, respectively. All had normal karyotypes. Four samples were dropped out due to premature rupture of membranes (n=2) and intrauterine fetal death (n=2). It was found that the outcomes of all remaining fetuses (n=83) were normal and no anomalies were seen until birth. Conclusion: Multiple CPCs in a single choroid plexus or bilaterality were not associated with abnormal fetal karyotype and therefore we think that isolated CPCs has a good prognosis.

Subtle findings on fetal brain imaging in CMV infected pregnancies: What is the clinical significance? A retrospective analysis with outcome correlation.

To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. For the 27 included patients, the time of infection was: periconception, first, second, third trimesters or unknown in 14.8%, 29.7%, 40.7%, 7.4%, and 7.4%, respectively. Seventy-four percent had only MRI findings; white matter hyperintense T2 signal (HT2) (51.8%), mild ventriculomegaly (18.5%), HT2 and temporal cyst (7.4%), dilated occipital horn (7.4%), Periventricular pseudo cyst (PVPC) with dilated occipital horn (3.7%), isolated PVPC (7.4%), choroid plexus cyst (3.7%). In 26% of fetuses, additional ultrasound findings were observed: Lenticulostriatal vasculopathy (LSV) (11.1%), LSV with PVPC (3.84%), isolated PVPC (3.84%), mild ventriculomegaly (3.84%), and bilateral temporal cysts (3.84%). In 66.6%, the MRI had false-positive findings (due to noninfected neonates). All children are developing normally, and one has a hearing deficit. Postnatal ultrasound (US) was normal in 21/27, with LSV in five, and a resolving subependymal cyst in one patient. Subtle imaging findings are more common on MRI than US and the prognosis is most likely favorable. Performing amniocentesis will significantly reduce the false-positive rate.

Role of Second-Trimester Soft Markers for Screening of Down Syndrome

Down syndrome is clinically characterized by mental retardation, birth defects, and specific physical features that are identifiable at birth. Mental retardation ranges from mild to severe with most cases showing a moderate level, to evaluate the effectiveness the second-trimester soft marker sonography combined with biochemical quadriple test screening for prenatal diagnosis of triosmy 21 in patient with risk factor for down syndrome, this is a prospective cohort study that was conducted at Department of obstetrics & Gynecology ,at Benha university hospital, and carried on 80 patients ,Ultrasound was done by voluson 2d and 3d searching for a number of soft markers, that there is high significant correlation between down syndrome and Hyper echogenic fetal bowel, Nasal bone hypoplasia, Mild ventriculomegally and Enlarged cysterna magna. Also there is significant correlation between Down syndrome and Choroid plexus cyst, Intra-cardiac echogenic foci, Single umbilical artery and Mild hydronephrosis, Second‐trimester soft markers, especially a thickened nuchal fold, remain important observations in the detection of Down syndrome by sonography among fetuses who have had first‐trimester sonographic screening for aneuploidy.

A Retrospective Review of Copy Number Variants and Ultrasound-Detected Soft Markers

Objective: To examine the association of copy number variants (CNV) among fetuses with ultrasound-detected soft markers (USM). Methods: This IRB-approved retrospective cohort study of fetuses with prenatal or children with postnatal chromosomal microarray analysis (CMA) sought to examine an association between clinically relevant CNV (classified as pathogenic CNV or variants of uncertain significance (VUS)) and USM in women who delivered at Geisinger between January 2010 and July 2018. The following USM were evaluated: choroid plexus cyst, thickened nuchal fold, absent or hypoplastic nasal bone, echogenic intracardiac focus, echogenic bowel, short long bones, and urinary tract dilation. Fetuses or children with known aneuploidy or a single gene disorder were excluded. Odds ratios (OR) of the association between CNV and USM were reported along with associated 95% confidence intervals (CI) and p-values. P values <0.05 were considered significant. Results: Of the 348 fetuses/children, 89 (25.6%) had a clinically relevant CNV. Similar percentages of demographic, delivery and neonate characteristics were noted for those with a clinically relevant CNV and those with a normal microarray analysis. No statistically significant differences were noted among those fetuses/children with a clinically relevant CNV and structural anomaly (p = 0.52; OR 1.18, 95% CI 0.72-1.92), presence of one USM (p = 0.72; OR 1.52, 95% CI 0.79-2.92), or presence of more than one USM (p = 0.79; OR 1.56, 95% CI 0.28-8.72). Conclusion: Our data supports a lack of association between a clinically relevant copy number variant and an ultrasound-detected soft marker. A small statistically insignificant increase in odds of a clinically relevant CNV was noted for those fetuses/children with one or more USM.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

BackgroundCri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China.Case presentationA total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order.ConclusionPrenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

Correlation between fetal cranial nervous system malformation and chromosome abnormality

Objective To investigate the correlation between fetal cranial nervous system malformation and chromosome abnormality. Methods The pregnant women with fetal cerebral nervous system dysplasia were collected from January 2013 to August 2018 at the Prenatal Diagnostic Center of the Sixth Affiliated Hospital of Guangzhou Medical University.The fetus was diagnosed by ultrasonography and karyotype analysis. Results A total of 18 cases of abnormal karyotypes were detected from 85 patient samples, and the abnormal rates were 21.18%.Single cranial nervous system malformation was found in 47 cases, abnormal karyotypes in 4 cases, multiple system malformation in 38 cases, and abnormal karyotypes in 14 cases, and the abnormal karyotype rate of multiple system malformation was higher than that of single cranial nervous malformation (36.84% vs.8.51%, χ2=10.101, P=0.001 5). And the 88.89%(16/18 cases)of abnormal karyotypes were founded in the early and middle pregnancy (≤28 weeks). The abnormal karyotype detection rates of cranial nervous system malformation associated with cardiovascular, skeletal and limb, facial neck abnormalities were 58.82% (10/17 cases), 50.00% (6/12 cases) and 50.00% (9/18 cases), respectively.In the fetal phenotypes, the abnormal karyotype detection rates of choroid plexus cysts were up to 64.29%, followed by arachnoid cysts (50.00%), craniocerebral abnormalities (45.45%) and holoprosencephaly (36.36%). Conclusions Chromosomal aneuploidy or structural abnormalities can lead to abnormal development of the fetal cranial nervous system, in which the rates of abnormal karyotypes on fetal cranial nervous with cardiovascular malformation and choroid plexus cysts are the highest. Key words: Fetal cranial nervous malformation; Chromosome karyotype; Trisomy 18; Early and middle pregnancy; Choroid plexus cysts

1872. Neurodevelopment in Apparently Normal Infants from Zika Virus Positive Pregnancies

BackgroundCongenital Zika syndrome (CZS) is seen in 5–12% of newborns from Zika virus (ZIKV)-infected pregnancies and includes severe neurologic abnormalities. However, the majority of ZIKV-exposed newborns do not have CZS. The risk for neurodevelopmental impairment for infants without CZS following in utero ZIKV is not well known. The objective was to determine whether infants without CZS exposed to ZIKV in utero, have normal neurodevelopment.MethodsWe performed a longitudinal study of neurodevelopment in Colombia for infants exposed to ZIKV in utero who had a normal fetal brain MRI (Mulkey et al, JAMA Peds 2019) and normal head circumference at birth. Infant development was assessed by the Warner Initial Developmental Evaluation of Adaptive and Functional Skills (WIDEA) and the Alberta Infant Motor Scale (AIMS) between 6 and 18 months of age. In-person training was done by a neurologist. The AIMS were video-recorded and scored centrally. Interrater reliability for the novel method of video-based AIMS was determined. WIDEA and AIMS scores were converted to Z-scores compared with normative samples. We also compared development between infants with normal and nonspecific findings on cranial ultrasound (US).ResultsSeventy-two non-CZS infants had neurodevelopmental tests; 40 were at a mean (SD) of 5.7 (0.9) months and 66 were at 13.5 (3.2) months of age. Thirty-four had two assessments. The total WIDEA, social cognition, and mobility domain scores became more abnormal with postnatal age (figure). The AIMS scores were similar to the normative sample. Three infants had an AIMS score < 2 SD’s below the norm. On cranial US, 19 infants (26%) had a nonspecific finding (lenticulostriate vasculopathy, choroid plexus cysts, subependymal cysts, and/or calcification). Infants with a US finding had a lower WIDEA mobility score than infants with normal US (P = .054). There was a trend toward lower AIMS scores in infants with US findings compared with infants with normal US (P = .26). AIMS Interrater agreement on video-based scoring was good (ICC = 0.73, 95% CI 0.42, 0.87).ConclusionZIKV-exposed infants without CZS are at risk for neurodevelopmental delay. Nonspecific cranial US findings may represent mild ZIKV-related injury. Long-term neurodevelopmental follow-up is important for all ZIKV-exposed infants. Disclosures All Authors: No reported Disclosures.

Isolated 'soft signs' of fetal choroid plexus cysts or echogenic intracardiac focus - consequences of their continued reporting.

Choroid plexus cysts (CPC) and echogenic intracardiac focus (EIF) are obsolete soft markers found on morphology ultrasound and not a valid reason for adjusting fetal risk of aneuploidy. We conducted a retrospective audit of women referred to genetic counsellor and fetal medicine services at St George Hospital (SGH) and the Royal Hospital for Women (RHW) for CPC and EIF from 1 January 2006 to 31 December 2016 inclusive. In total, 208 CPC and/or EIF referrals were identified, 118 (57%) of which were for isolated CPC and/or EIF and 102 (49%) occurring in women low risk for aneuploidy prior to morphology ultrasound. Significantly, more women had undergone combined first-trimester screening in the 2014 to 2016 epoch vs. previous years at both SGH (P=0.03) and RHW (P=0.004). However, the number of women referred for CPC and EIF remained relatively constant. No fetus was born with a major structural or chromosomal abnormality in the group of low-risk women with isolated signs. However, 18% of these women were referred to both genetic counselling and fetal medicine services, 7% had NIPT after morphology, 14% had amniocentesis, and 33% had additional ultrasound(s). Despite advances in screening technology, low-risk women are still referred to specialist services for these 2 soft signs and undergoing unnecessary follow-up, NIPT and amniocentesis.

Relative Risk Assessment of Intrauterine Infection of the Fetus During Cytomegalovirus Infection in Early Pregnancy

Background. Intrauterine fetal infection (IUI), the common cause of which is the cytomegalovirus (CMV), occupies one of the first places in the structure of perinatal morbidity and mortality. There are no data on the relative risk assessment of IUI at the exacerbation of CMV infection and its delitescent course in first trimester of pregnancy in the literature.Aim: to calculate the relative risks of fetal IUI in pregnant women with exacerbation of CMV infection in the first trimester of pregnancy.Methods. A retrospective review of the labor and delivery medical records and prenatal records of 104 CMV-seropositive women was carried out. Fifty of these women had an exacerbation of CMV infection in the first trimester of pregnancy – main group and 54 of them were with delitescent course of the disease (comparison group).Results. A comparative analysis of ultrasound and morphological markers of IUI with risk assessment depending on the course of CMV infection in the first trimester of pregnancy has been carried out. A high risk of placental structure abnormalities, as well as amniotic fluid and fetal membranes, fetal and placental blood flow pathology, onset of choroid plexus cyst and fetal growth restriction was found, with a statistically significant difference in the group of pregnant women with exacerbation of CMV infection in the first trimester of pregnancy.Conclusion. The findings suggest that the exacerbation of CMV infection in early pregnancy is a risk factor for IUI.

Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature

Terminal deletion of chromosome 4 (4q deletion syndrome) is a rare genetic condition that is characterized by a broad clinical spectrum and phenotypic variability. Diagnosis of the distinct condition can be identified by conventional chromosome analysis and small deletions by novel molecular cytogenetic methods such as microarray comparative genome hybridization (aCGH). Prenatal diagnosis is challenging; to date 10 cases have been described. We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 prenatally published cases of 4q deletion syndrome in the literature and compared these with our results. We summarize the patients' characteristics and prenatal clinical findings. Alterations of maternal serum biochemical factors, an elevated combined risk for trisomies, and distinct ultrasonographic findings can often be observed in cases of prenatal 4q deletion syndrome and may facilitate the otherwise difficult prenatal diagnosis.

Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series

Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series

A Rare Case of Cerebral Hemangioblastoma Mimicking as Anterior Choroid Plexus Cyst

A choroid plexus cyst may be present throughout the ventricularsystem of the brain. A hemangioblastoma is generally found inpatients with genetic diseases like Von Hippel-Lindau (VHL) syndromedisease, but it can also be found sporadically in the spinalcord, retina and in rare cases in the cerebrum.An eighteen-year-old male subject was referred for autopsyin Kolkata police morgue on 27/02/2017. Two hours before, thepatient had been brought to the hospital for severe headache; butbefore any diagnosis could be made, he collapsed and died. Onautopsy, a 4cm fluid filled cyst was found in the anterior portionof third ventricle and sent for histopathological examination. HPEfindings were consistent with a hemangioblastoma, which madethis case extremely rare.Sudden death due to increased intracranial tension cases shouldbe properly examined for any neuroepithelial tumours like a hemangioblastoma.

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.

A Single-Center Experience with a Pregnant Immigrant Population and Zika Virus Serologic Screening in New York City.

Our institution is in an area of New York City with a large population of immigrants from Zika virus endemic areas. With the recent Zika virus outbreak, we sought to examine our center's experience with screening for Zika virus and outcomes among patients who tested positive for the disease during pregnancy. We performed a chart review of all pregnant patients who tested positive (positive serum or urine polymerase chain reaction [PCR]) or presumed positive (immunoglobulin M [IgM] enzyme-linked immunosorbent assay [ELISA] positive or IgM ELISA equivocal with positive plaque reduction neutralization test) for Zika virus. All tests were performed by the Department of Health (DOH) and followed Centers for Disease Control and Prevention guidelines in effect at the time of specimen collection. Testing of cord blood, placenta, and/or neonatal blood were/was performed by the DOH for New York County. Prenatal ultrasounds for fetal head size and surveillance for calcifications were performed by maternal-fetal medicine specialists. Infant head ultrasound results were included when available. Between March 2016 and April 2017, 70 pregnant patients were positive or presumed positive for Zika infection during pregnancy. Of those, 16 women had positive urine or serum PCR and the remaining 54 were presumed positive. Among positive cases, five women tested positive via urine PCR only, nine women tested positive via serum PCR only, and two women had both positive urine and serum PCR. Fifteen of 67 infants (22%) born during the study period were born to mothers with positive urine or serum PCR testing. Sixty-five newborns were clinically normal with normal head measurements. Of the intracranial ultrasound performed, one infant had a grade 1 intraventricular hemorrhage, four had incidental choroid plexus cysts, and one had severe ventriculomegaly that was also noted antenatally. There were 2 positive and 15 equivocal infant serum IgM samples and 1 positive placental PCR from these pregnancies. There were four pregnancy terminations and two cases with fetal anomalies in this population that were split evenly between patients who tested positive and those who tested presumed positive for Zika virus during pregnancy. We found no differences in pregnancy or neonatal outcomes between women who tested positive and presumed positive for Zika virus during pregnancy. Testing of infants and placenta tissue after delivery was largely inconclusive. Improvement in testing for Zika virus infection is needed to determine which pregnancies are at risk for congenital anomalies. Further research is still needed to determine which children are at risk for poor neurodevelopmental outcomes related to Zika virus and how to best coordinate care among the immigrant population during a new disease epidemic.

Prenatal diagnosis and genetic counseling for two pedigrees with pericentric inversion of chromosome 18

Objective To investigate the roles of ultrasound, laboratory methods, and genetic diagnostic techniques in screening and diagnosing fetuses with an unbalanced recombination of chromosome 18[rec(18)] due to parental pericentric inversion, and the relationship between rec(18) fetal phenotypes and their recombinant chromosomes. Methods We analyzed two pedigrees with pericentric inversion of chromosome 18 (including the fetuses and their parents) which received prenatal diagnosis and genetic counseling on March 2017 and March 2018 respectively at Xiamen Maternity and Children Health Care Hospital through karyotype analysis, chromosome microarray analysis(CMA) and fluorescence in situ hybridization (FISH). Literatures were retrieved from Scientific Citation Index, PubMed, China National Knowledge Infrastructure(CNKI) and Wanfang Data from 1970 to June 2018. The genetic counseling records, ultrasound and laboratory findings, pregnancy outcomes of families with pericentric inversion of chromosome 18 in this study and the included literatures were reported and analyzed. Results Non-invasive prenatal testing (NIPT) of one case indicated high risk of fetal trisomy 18 at 22 weeks of gestation. And the imaging examination indicated that fetus had interventricular septal defect and micrognathia at 24+2 weeks. Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(18)dup(18q)inv(18)(p11.32q12.1) pat, which was originated from his father whose karyotype was 46,XY,inv(18)(p11.32q12.1). In the other case, serum screening testing indicated high risk of fetal trisomy 18 at 12+3 weeks. Imaging examination indicated that fetus had thickened nuchal translucency at 13+3 weeks and bilateral choroid plexus cysts at 15+6 weeks. Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(18)dup(18q)inv(18)(p11.32q12.1) mat, which was originated from his mother whose karyotype was 46,XX,inv(18)(p11.32q12.1). Among the nine fetuses, including seven from five pedigrees reported in the literature retrieved and two from the two pedigrees we reported, seven showed abnormal soft markers or structures in ultrasound and three of the seven pedigrees had high risk of fetal trisomy 18. Conclusions Ultrasound screening is highly sensitive in detecting rec(18) fetuses, yet the association between ultrasound features and fetal karyotypes is not clear. The combination of multiple genetic analysis methods, including karyotype analysis, CMA and FISH, may be conducive to clarifying the types and sources of complex derived chromosomes. Key words: Chromosomes, human, pair 18; Chromosome inversion; Ultrasonography, prenatal; Genetic counseling