Interhemispheric Transcallosal Approach for Resection of Choroidal Arteriovenous Malformation: Operative Video.

Choroidal arteriovenous malformations (AVMs) are rare vascular entities located deep within the brain and in close relationship with vital paraventricular structures.1,2 Recruitment of feeders from the anterior and posterior choroidal arteries is typical in these lesions.3 We present the case of a 38-year-old woman who presented initially to an outside hospital with an intracranial hemorrhage 17 months prior. Initial computed tomography scan showed a large intraventricular hemorrhage and a right thalamic hemorrhage. She was diagnosed with a cerebral AVM and underwent treatment with placement of an external ventricular drain followed by partial embolization of a feeder with Onyx liquid embolic system (ev3, Irvine, California, USA). The patient had good functional recovery and was referred to our center for management of the residual lesion. Neurologic examination revealed no focal neurologic deficit. Diagnostic cerebral angiogram (DSA) showed persistent filling of the AVM with feeders from anterior and posterior choroidal arteries. Drainage was noted into an arterialized vein that coursed anteriorly and inferiorly prior to joining the internal cerebral vein and ultimately draining into the vein of Galen. After reviewing the management options, decision was made to proceed with microsurgical resection via an interhemispheric transcallosal approach (Video 1). The patient tolerated the procedure well and was discharged home on postoperative day 4 with no evidence of residual AVM on DSA and no neurologic deficit noted at last follow-up.

Multiple subependymal pseudocysts in neonates play a role in later attention deficit hyperactivity and autistic spectrum disorder.

BACKGROUND/PURPOSE: To assess the long-term neurodevelopmental outcome of normal-term neonates who were accidentally found to exhibit subependymal pseudocysts (SEPCs), frontal horn cysts, or choroid plexus cysts through cranial ultrasound (CUS) examination in a neonatal health examination. METHODS: In total, 5569 neonates received CUS examination as an item in a health examination during the first week of birth between 2002 and 2012. Among them, 5147 infants fulfilled the inclusion criteria. The participants were aged between 5 and 15 years at the time when the data were collected. We retrospectively collected these data and interpreted their statistical significance by using one-way analysis of variance, Chi-square test with Yate's correction and odds ratios. RESULTS: The presence of SEPCs was significantly correlated with developmental delay and developmental disability, particularly with attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD). The risk of ADHD or ASD was significantly higher in participants with multiple SEPCs, among whom the odds ratios for ADHD and ASD were 6.50 (95% confidence interval [CI] = 2.27-18.64) and 28.54 (95% CI = 5.98-136.36), respectively, higher than those for the total study population. CONCLUSION: Our data revealed multiple SEPCs in normal-term neonates as a risk factor for neurobehavioral outcome, particularly in ADHD and ASD. Simultaneously, the utility of CUS examination as a health examination item for neonates was confirmed.

Absence of the choroid plexus of the fourth ventricle in the first trimester / Ausencia de plexo coroideo de cuarto ventrículo en el primer trimestre

Objectives: There is an increasing interest in the sonographic detection of posterior fossa (PF) anomalies in the first trimester (1T) of pregnancy. However, there is poor agreement in the diagnostic criteria among different investigators. Our objective is to describe a qualitative reproducible sonographic feature that can be useful to predict pathology in the PF during the 1T of pregnancy. Methods: Two experienced operators, blinded to the final clinical outcome, retrospectively analysed stored 3D volume data sets from 68 1T fetuses (11 + 0‐13 + 6w), including 14 with abnormal PF that were randomly added to the sample. The choroid plexus (CP) of the IV ventricle was assessed in midsagittal and axial planes by multiplanar navigation. It was classified as present or absent if the echogenic line between the brain stem and the cisterna magna was visible or not in both planes. Results: 3D volume data sets were acquired transabdominally in 58 (85%) cases and transvaginally in the other 10 (15%). The CP of the IV ventricle was classified as present in 53 cases and as absent in 15 cases, with total agreement between the two observers in both axial and sagittal planes except for one case. The CP was absent in: 10 fetuses with aneuploidy (triploidy: 5; trisomy 13: 2; trisomy 18: 2; Turner syndrome: 1); 4 fetuses with CNS anomalies (open neural tube defects: 2; encephalocele: 1; Dandy‐Walker malformation: 1); and 1 normal fetus (false positive). Conclusions: Qualitative assessment of the CP of the IV ventricle seems to be highly reproducible. This simple sonographic feature can facilitate the detection of PF anomalies, which are frequently associated with aneuploidies

Objetivo: describir una característica cualitativa y reproducible de la fosa posterior para predecir anomalías cromosómicas y patología del sistema nervioso central durante el primer trimestre del embarazo. Métodos: 54 volúmenes 3D fueron adquiridos en gestantes a las que se realizaba la ecografia del 1ºT (11- 13+6 semanas). 20 volúmenes con ecoestructura de la fosa posterior valorada como anormal fueron analizados retrospectivamente e incluidos aleatoriamente en el grupo de estudio. Dos ecografistas experimentados, que desconocían los resultados clínicos finales, analizaron todos los volúmenes. Mediante la navegación multiplanar evaluaron el plexo coroideo del cuarto ventrículo en el plano axial y en el sagital medio. El plexo coroideo se clasificó como presente o ausente si la estructura ecogénica que existe entre el cuarto ventrículo y la cisterna magna era visible o no en ambos planos. Resultados: el plexo coroideo del cuarto ventrículo se clasificó como presente en 53 casos y como ausente en 21 con acuerdo completo entre los observadores en los planos sagitales y coronales, salvo en 1. De los 21 fetos que tenían ausencia del plexo coroideo, en 9 había una anomalía del sistema nervioso central (6 espinas bífidas, 1 encefalocele, 1 megacisterna magna, 1 malformación de Dandy-Walker) y/o alteraciones cromosómicas en 15 casos (5 triploidías, 3 trisomías 13, 6 trisomías 18, 1 45X0). Hubo un falso positivo, con el plexo coroideo clasificado como ausente en un feto normal. Conclusiones: la evaluación cualitativa del plexo coroideo del cuarto ventrículo es sencilla y reproducible pudiendo facilitar la detección de aneuploidías y de algunas anomalías del sistema nervioso central

A new type of hyperplastic anterior choroidal artery.

Hyperplastic anomaly of the anterior choroidal artery (hyperplastic AchA) and posterior communicating artery of duplicate origin (duplicated Pcom) are rare vessel anomalies. With some literature review, we here report three cases of hyperplastic AchA, one of which was considered a new type of hyperplastic AchA. This case was not categorized into Takahashi classification.

Choroid plexus AVM with anomalous origin of the capsulothalamic artery: A case report.

Background and importance Traditionally, it has been believed that the plexal segment of the anterior choroidal artery (AChoA) can be sacrificed safely. Here, we present a case of choroid plexus arteriovenous malformation (AVM) in which the capsulothalamic artery originated from distal plexal segment of the AChoA. Clinical presentation A 45-year-old man was diagnosed with arteriovenous malformation involving the left inferior horn in screening MRI. Preceding stereotactic radiosurgery, transarterial target embolization was performed. In this procedure, 20% n-butyl-2-cyanoacrylate (NBCA) was successfully injected from the lateral plexal branch of the AChoA. After embolization, right homonymous hemianopsia developed due to cerebral infarction on the left optic radiation. This infarction was considered to be within the territory of the capsulothalamic artery. Conclusion This anomalous capsulothalamic artery might be formed by hemodynamic compromise of the brain surrounding AVM in early gestation. We must be aware of this unusual anatomical variation to avoid ischemic complication in embolization of the AChoA.

Bilateral Thalamic Edema from Coexisting Choroid Plexus Arteriovenous Malformation and Sinus Thrombosis: Case Report.

Bilateral thalamic dysfunction secondary to venous congestion may result from either venous sinus thrombosis or high flow arteriovenous malformations or a combination of both. We present a case of bilateral thalamic edema resulting from concomitant choroid plexus arteriovenous malformation (AVM) and straight sinus thrombosis and describe our treatment approach. The patient presented with several weeks of progressive confusion and memory deficits. Magnetic resonance imaging and venography (MRI/ MRV) showed bilateral thalamic T2 hyperintensities and straight sinus thrombosis. Subsequent cerebral angiography revealed a choroid plexus AVM within the right lateral ventricle. The patient underwent surgical resection of the AVM resulting in postoperative resolution of bilateral thalamic edema on MRI and improvement of his confusion and memory deficits. This case demonstrates a rare example of reversible bilateral thalamic edema secondary to venous hypertension from both an AVM and sinus occlusion after appropriate treatment of the AVM.

Choroid Plexus Cyst in a Neonatal Burmeister's Porpoise (Phocoena spinipinnis).

Neuroectodermal developmental anomalies are reported rarely in cetaceans and central nervous system cysts are not described. We describe the gross, microscopical, histochemical and immunohistochemical features of a neuraxial myelencephalic cyst in a stranded neonatal Burmeister's porpoise (Phocoena spinipinnis). Grossly, a subdural, extra-axial, well-demarcated, yellow fluid-filled cystic structure (1.9 × 1.6 × 1 cm) expanded the left foramen of Luschka, the left caudolateral cerebellar recess and the left cranioventral myelencephalon. The cyst displaced the ipsilateral ventral paraflocculus and distended the underlying cranial nerves IX, X, XI and XII. Microscopically, the cystic structure was lined by a monolayer of low cuboidal to flattened epithelium supported by a thin fibrovascular matrix. Immunohistochemistry (IHC) revealed strong and diffuse expression of AE1/AE3 and focal positivity for vimentin. IHC for epithelial membrane antigen, glial fibrillary acid protein, synaptophysin and S100 was negative. Based on these findings, an extra-axial cyst of the choroid plexus of the fourth ventricle (CCPFV) was diagnosed. The pathological relevance of the CCPFV in this case is uncertain. The cause of death involved severe perinatal interspecific (shark) trauma. The present case provides the first evidence of a neuroepithelial cyst in cetacean species.

Choroid Plexus Cyst in a Neonatal Burmeister's Porpoise (Phocoena spinipinnis)

Neuroectodermal developmental anomalies are reported rarely in cetaceans and central nervous system cysts are not described. We describe the gross, microscopical, histochemical and immunohistochemical features of a neuraxial myelencephalic cyst in a stranded neonatal Burmeister's porpoise (Phocoena spinipinnis). Grossly, a subdural, extra-axial, well-demarcated, yellow fluid-filled cystic structure (1.9 × 1.6 × 1 cm) expanded the left foramen of Luschka, the left caudolateral cerebellar recess and the left cranioventral myelencephalon. The cyst displaced the ipsilateral ventral paraflocculus and distended the underlying cranial nerves IX, X, XI and XII. Microscopically, the cystic structure was lined by a monolayer of low cuboidal to flattened epithelium supported by a thin fibrovascular matrix. Immunohistochemistry (IHC) revealed strong and diffuse expression of AE1/AE3 and focal positivity for vimentin. IHC for epithelial membrane antigen, glial fibrillary acid protein, synaptophysin and S100 was negative. Based on these findings, an extra-axial cyst of the choroid plexus of the fourth ventricle (CCPFV) was diagnosed. The pathological relevance of the CCPFV in this case is uncertain. The cause of death involved severe perinatal interspecific (shark) trauma. The present case provides the first evidence of a neuroepithelial cyst in cetacean species.

anomalias de desenvolvimento neuroectodérmicas são raramente relatadas em cetáceos e cistos do sistema nervoso central não são descritos. Descrevemos as características macroscópicas, microscópicas, histoquímicas e imuno-histoquímicas de um cisto mielencefálico neuroaxial em uma toninha de Burmeister neonatal encalhada (Phocoena spinipinnis). Grosso modo, uma estrutura cística amarela subdural, extra-axial, bem demarcada e cheia de líquido (1,9 × 1,6 × 1 cm) expandiu o forame esquerdo de Luschka, o recesso cerebelar caudolateral esquerdo e o mielencéfalo cranioventral esquerdo. O cisto deslocou o paraflóculo ventral ipsilateral e distendeu os nervos cranianos subjacentes IX, X, XI e XII. Microscopicamente, a estrutura cística foi revestida por uma monocamada de epitélio cubóide a achatado baixo, suportada por uma fina matriz fibrovascular. A imuno-histoquímica (IHC) revelou forte e difusa expressão de AE1 / AE3 e positividade focal para vimentina. O IHC para antígeno da membrana epitelial, proteína do ácido fibrilar glial, sinafofisina e S100 foi negativo. Com base nesses achados, foi diagnosticado um cisto extra-axial do plexo coróide do quarto ventrículo (CCPFV). A relevância patológica do CCPFV neste caso é incerta. A causa da morte envolveu traumatismo interespecífico (tubarão) perinatal grave. O presente caso fornece a primeira evidência de um cisto neuroepitelial em espécies de cetáceos. patologia cetáceo Anomalia congenita neuroectoderma

Choroidal fissure acts as an overflow device in cerebrospinal fluid drainage: morphological comparison between idiopathic and secondary normal-pressure hydrocephalus.

To clarify the pathogenesis of two different types of adult-onset normal-pressure hydrocephalus (NPH), we investigated cerebrospinal fluid distribution on the high-field three-dimensional MRI. The subarachnoid spaces in secondary NPH were smaller than those in the controls, whereas those in idiopathic NPH were of similar size to the controls. In idiopathic NPH, however, the basal cistern and Sylvian fissure were enlarged in concurrence with ventricular enlargement towards the z-direction, but the convexity subarachnoid space was severely diminished. In this article, we provide evidence that the key cause of the disproportionate cerebrospinal fluid distribution in idiopathic NPH is the compensatory direct CSF communication between the inferior horn of the lateral ventricles and the ambient cistern at the choroidal fissure. In contrast, all parts of the subarachnoid spaces were equally and severely decreased in secondary NPH. Blockage of CSF drainage from the subarachnoid spaces could cause the omnidirectional ventricular enlargement in secondary NPH.

Sudden death from ruptured choroid plexus arteriovenous malformation.

Brain vascular malformations are recognized as having potential to produce hemorrhage, but leading to sudden death in children is uncommon. Arteriovenous malformations may be situated in any region of the brain, but very rarely, they can be restricted to the choroid plexus. We report here a rare case of sudden death in a child, caused by a ruptured vascular malformation with an unusual location, which was not identified grossly but only on histological examination. The size and the location of the lesion, as well as the age of our patient, were contributing factors of the massive bleeding. Autopsy remains an important tool because it provides valuable information about the etiology of such bleedings, improves knowledge about these lesions, and enhances epidemiologic data.

Cortical hypoplasia and ventriculomegaly of p73-deficient mice: Developmental and adult analysis.

Trp73, a member of the p53 gene family, plays a crucial role in neural development. We describe two main phenotypic variants of p73 deficiency in the brain, a severe one characterized by massive apoptosis in the cortex leading to early postnatal death and a milder, non-/low-apoptosis one in which 50% of pups may reach adulthood using an intensive-care breeding protocol. Both variants display the core triad of p73 deficiency: cortical hypoplasia, hippocampal malformations, and ventriculomegaly. We studied the development of the neocortex in p73 KO mice from early embryonic life into advanced age (25 months). Already at E14.5, the incipient cortical plate of the p73 KO brains showed a reduced width. Examination of adult neocortex revealed a generalized, nonprogressive reduction by 10-20%. Area-specific architectonic landmarks and lamination were preserved in all cortical areas. The surviving adult animals had moderate ventricular distension, whereas pups of the early lethal phenotypic variant showed severe ventriculomegaly. Ependymal cells of wild-type ventricles strongly express p73 and are particularly vulnerable to p73 deficiency. Ependymal denudation by apoptosis and reduction of ependymal cilia were already evident in young mice, with complete absence of cilia in older animals. Loss of p73 function in the ependyma may thus be one determining factor for chronic hydrocephalus, which leads to atrophy of subcortical structures (striatum, septum, amygdala). p73 Is thus involved in a variety of CNS activities ranging from embryonic regulation of brain size to the control of cerebrospinal fluid homeostasis in the adult brain via maintenance of the ependyma.

Ectopic choroid plexus found in fetal sections: a case report with literature consideration.

We incidentally found an ectopic choroid plexus (CP) attached to the posterior side of the cervicothoracic spinal cord (C4-T6) in a 16-week aborted fetus. The cytoarchitecture of the cord and segmental nerves showed normal development. The fourth ventricle did not contain the usual CP but a red blood cell cluster due to hemorrhage, although the cause, whether spontaneous or traumatic, was unknown. The ectopic CP was associated with thick neuroepithelium that was strongly positive for glial fibrillary acidic protein, vimentin, nestin, and proliferating cell nuclear antigen, but did not contain any CD34-positive vessels. Thus, the ectopic neuroepithelium seemed not to carry growth factor for vascular development. On the inferior side of the ectopic CP, the lower thoracic cord was wavy, folded, and packed in a limited space as a folding fan. Despite the strange gross appearance, however, we found no abnormality in the dorsal root ganglion, the spinal nerve root, or the cytoarchitecture of the lower thoracic cord. Therefore, the abnormality in the lower thoracic cord seemed to be secondarily induced by trophic factor(s) from the ectopic CP and/or the associated neuroepithelium. This may be the first report on an ectopic CP associated with ectopic neuroepithelium.

First trimester screening for holoprosencephaly with choroid plexus morphology ('butterfly' sign) and biparietal diameter.

OBJECTIVE: The aim of this study was to determine whether choroid plexus morphology ('butterfly' sign) and biparietal diameter (BPD) are effective sonographic screening tools for holoprosencephaly (HPE) in the first trimester. METHODS: An axial view of the fetal head was obtained routinely to determine the presence of the 'butterfly' sign in pregnancies presenting for sonographic screening at 11-13 weeks of gestation. The same view was also used to obtain BPD measurements. The definitive diagnosis of HPE was established by the sonographic demonstration of an anterior cerebral monoventricular cavity and thalamic fusion. RESULTS: During a 9-year study period, 11 068 live fetuses were screened. There were 11 cases of HPE (prevalence 1/1006); all of them were detected by demonstration of an absent 'butterfly' sign with no false-positive cases. The BPD was less than the 5th percentile in 40% of the cases. CONCLUSIONS: The 'butterfly' sign appears to be a highly sensitive marker for HPE in the first trimester. On the other hand, BPD measurements had a lower sensitivity, implying that microcephaly is not a prominent first-trimester feature in these cases. Incorporation of the 'butterfly' sign into the first trimester anatomy scan is simple and can facilitate the identification of the vast majority of fetuses with HPE in the first trimester.

Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: case report with literature review.

Trisomy 9 is a lethal chromosomal abnormality that rarely progresses beyond the second trimester of pregnancy. Multiple central nervous system anomalies, including bifid choroid plexus, ventriculomegaly, and Dandy-Walker malformation, associated with multicystic dysplastic kidney disease in a trisomy 9 fetus are reported. The prenatal ultrasound diagnosis has been aided by novel three-dimensional ultrasound software.

Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome.

OBJECTIVE: To report the prenatal findings and postnatal outcome of fetal ventriculomegaly associated with isolated large choroid plexus cysts (CPCs). METHOD: Cases of isolated fetal ventriculomegaly and large CPCs (>10 mm) were identified through a search of patient records from 2003 to 2006. Ultrasound (US) findings were reviewed: unilateral or bilateral ventriculomegaly, ventricular size, size of CPCs, and changes on serial scans. Correlation was made with fetal magnetic resonance imaging (MRI), pregnancy outcome, and long-term follow-up. RESULTS: Six cases of isolated large CPCs (12-30 mm) with ventriculomegaly (11-17 mm) were detected on US at 18 to 26 weeks of gestation. Serial prenatal US showed the CPCs resolved (one case) or decreased in size (five cases). Ventricular size became normal during pregnancy in five cases and decreased in size in one case. Fetal MRI performed in three cases showed no additional findings. Five patients had amniocentesis which showed normal karyotype. There was one termination of pregnancy (the fetus showed no abnormality on external examination). There were five healthy newborns, with follow-up to 4.5 years of age (one), 5.5 years (one), and 6 years (three). All had normal physical and developmental outcome. CONCLUSION: Large isolated CPCs may transiently dilate the fetal cerebral ventricles. Follow-up to 6 years has shown normal growth and development.

Diagnostic value of subependymal pseudocysts and choroid plexus cysts on neonatal cerebral ultrasound: a meta-analysis.

BACKGROUND AND OBJECTIVE: Subependymal pseudocysts and choroid plexus cysts are seen in newborns on cerebral ultrasound. Clinicians are unsure whether these findings are related to an underlying disease which affects long-term outcome and requires medical intervention. In an attempt to establish the diagnostic value of cystic lesions on cerebral ultrasound and guide clinical management we searched the medical literature and performed a meta-analysis. METHODS: We performed a systematic literature review and summarised the data on the value of subependymal pseudocysts or choroid plexus cysts for the diagnosis of chromosomal anomalies or congenital infections. Sensitivity, specificity, predictive values and likelihood ratios were calculated for single, multiple, unilateral and bilateral cysts. RESULTS: 305 patients with cystic lesions were retrieved. Bilateral cysts, irrespective of their number, had a sensitivity of 88% and negative predictive value of 94% for a congenital infection or genetic disorder. Unilateral single cysts had a specificity of 92% for normal microbiological and genetic results. Bilateral multiple subependymal pseudocysts or choroid plexus cysts had a positive likelihood ratio of 9.1 for a chromosomal anomaly or congenital infection. Unilateral cysts had a negative likelihood ratio of 0.2 for a congenital infection or chromosomal anomaly. There was a chance of 1 in 4-5 for a congenital infection or chromosomal anomaly if bilateral multiple subependymal pseudocysts or choroid plexus cysts were found. CONCLUSIONS: Bilateral multiple subependymal pseudocysts or choroid plexus cysts suggest an underlying disease. Further investigations should be undertaken even if the patient is otherwise normal. Parents of well newborns with a single cyst should be reassured.

Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.

Huntingtin (htt) is a 350 kDa protein of unknown function, with no homologies with other known proteins. Expansion of a polyglutamine stretch at the N-terminus of htt causes Huntington's disease (HD), a dominant neurodegenerative disorder. Although it is generally accepted that HD is caused primarily by a gain-of-function mechanism, recent studies suggest that loss-of-function may also be part of HD pathogenesis. Huntingtin is an essential protein in the mouse since inactivation of the mouse HD homolog (Hdh) gene results in early embryonic lethality. Huntingtin is widely expressed in embryogenesis, and associated with a number of interacting proteins suggesting that htt may be involved in several processes including morphogenesis, neurogenesis and neuronal survival. To further investigate the role of htt in these processes, we have inactivated the Hdh gene in Wnt1 cell lineages using the Cre-loxP system of recombination. Here we show that conditional inactivation of the Hdh gene in Wnt1 cell lineages results in congenital hydrocephalus, implicating huntingtin for the first time in the regulation of cerebral spinal fluid (CSF) homeostasis. Our results show that hydrocephalus in mice lacking htt in Wnt1 cell lineages is associated with increase in CSF production by the choroid plexus, and abnormal subcommissural organ.

Choroid plexus hyperplasia and monosomy 1p36: report of new findings.

Monosomy 1p36 is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. It is now considered to be one of the most common subtelomeric micro-deletion syndromes. This article reports new findings of choroid plexus hyperplasia and dextrocardia with situs solitus in a patient who had deletion of chromosome 1p26.33 with a brief review of the literature.

Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts.

OBJECTIVES: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). METHODS: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. RESULTS: The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%). CONCLUSIONS: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.