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Fetal ventriculomegaly

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https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#1
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29739644/evaluation-of-choroid-plexus-with-fetal-magnetic-resonance-imaging-what-happens-in-ventriculomegaly
#2
Sila Ulus, Cem Turam, Deniz Mutlu, Ipek Inal Kaleli, Mert Kocak, Umit Aksoy Ozcan
OBJECTIVES: Diagnosis of ventriculomegaly (VM) and identification of choroid plexus (CP) can be challenging with fetal magnetic resonance imaging (MRI). Our aim is to create an adjunct method for supporting the diagnosis of VM by investigating the CP-ventricular wall separation distance in fetuses with and without VM (nV) with fetal MRI. METHODS: T2-weighted fetal MRIs of 154 fetuses were retrospectively evaluated. The CP separation was defined as the distance between the medial wall of the dependent ventricle and distal tip of the CP glomus...
May 5, 2018: Brain & Development
https://www.readbyqxmd.com/read/29709429/mild-ventriculomegaly-from-fetal-consultation-to-neurodevelopmental-assessment-a-single-center-experience-and-review-of-the-literature
#3
Barbara Scelsa, Mariangela Rustico, Andrea Righini, Cecilia Parazzini, Marina Antonella Balestriero, Paola Introvini, Luigina Spaccini, Massimo Mastrangelo, Gianluca Lista, Gian Vincenzo Zuccotti, Pierangelo Veggiotti
OBJECTIVE: The aim of our study was to determine the outcome of fetuses with isolated mild ventriculomegaly, with prenatal imaging work-up, prenatal consultation, delivery and clinical follow-up performed in a single tertiary referring center. METHODS: Fetuses with isolated and non-progressive mild ventriculomegaly (10-15 mm) were included in the study. Inclusion criteria were as follows: singleton pregnancies, normal chromosomal analysis, normal serological evaluation of TORCH, fetal ultrasound and MRI excluding additional CNS or extra-CNS malformations...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29705191/society-for-maternal-fetal-medicine-smfm-consult-series-45-mild-fetal-ventriculomegaly-diagnosis-evaluation-and-management
#4
Nathan S Fox, Ana Monteagudo, Jeffrey A Kuller, Sabrina Craigo, Mary E Norton
Ventriculomegaly is defined as dilation of the fetal cerebral ventricles and is a relatively common finding on prenatal ultrasound. The purpose of this document is to review the diagnosis, evaluation, and management of mild fetal ventriculomegaly. When enlargement of the lateral ventricles (≥10 mm) is identified, a thorough evaluation should be performed, including detailed sonographic evaluation of fetal anatomy, amniocentesis for karyotype and chromosomal microarray analysis (CMA), and a workup for fetal infection...
April 26, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29643044/-clinical-value-of-genome-wide-chromosome-microarray-technique-in-diagnosis-of-fetal-cerebral-ventriculomegaly
#5
Yi-Xian Peng, Yu-Wen Qiu, Qing-Xian Chang, Yan-Hong Yu, Mei Zhong, Kun-Rui Li
OBJECTIVE: To investigate the clinical value of gnome-wide chromosome microarray (CMA) technique in genetic etiological diagnosis of fetal cerebral ventriculomegaly. METHODS: A retrospective analysis was conducted in 109 women with singleton pregnancy, who were admitted in Nanfang Hospital with the diagnosis of cerebral ventriculomegaly in the fetuses by ultrasound between January, 2014 and December, 2016. Routine karyotype analysis and chromosome microarray analysis were performed to identify the chromosomal abnormalities in the fetuses...
March 20, 2018: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/29607569/neurodevelopmental-outcome-of-fetal-isolated-ventricular-asymmetry-without-dilation-a-cohort-study
#6
Raanan Meyer, Omer Bar-Yosef, Eran Barzilay, Dana Hoffman, Shlomi Toussia-Cohen, Elad Zvi, Reuven Achiron, Eldad Katorza
OBJECTIVE: Fetal isolated ventricular asymmetry (IVA) is a relatively common finding in pregnancy, but data regarding its effect on neurodevelopmental outcome is scarce and principally founded on ultrasound-based studies. The purpose of this study was to assess the outcome of such cases in a magnetic resonance imaging based study. METHODS: Cases referred to fetal brain MR imaging as part of the investigation of IVA without ventriculomegaly (≤10 mm), identified during routine ultrasound examinations, were assessed for possible inclusion...
April 1, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29541808/fowler-syndrome-and-fetal-mri-findings-a-genetic-disorder-mimicking-hydranencephaly-hydrocephalus
#7
Beth M Kline-Fath, Arnold C Merrow, Maria A Calvo-Garcia, Usha D Nagaraj, Howard M Saal
Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex...
March 14, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29519789/congenital-aqueductal-stenosis-findings-at-fetal-mri-that-accurately-predict-a-postnatal-diagnosis
#8
K J Heaphy-Henault, C V Guimaraes, A R Mehollin-Ray, C I Cassady, W Zhang, N K Desai, M J Paldino
BACKGROUND AND PURPOSE: Congenital aqueductal stenosis is a common cause of prenatal ventriculomegaly. An accurate diagnosis provides prognostic information and may guide obstetric management. The purpose of this study was to identify specific anatomic findings on prenatal MR imaging that can be used as predictors of congenital aqueductal stenosis. MATERIALS AND METHODS: Prenatal and postnatal MRIs of fetuses referred to our institution for ventriculomegaly between June 2008 and August 2015 were reviewed...
May 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29484752/outcome-of-fetuses-with-prenatal-diagnosis-of-isolated-severe-bilateral-ventriculomegaly-a-systematic-review-and-meta-analysis
#9
REVIEW
Silvia Carta, Andrea Kaelin Agten, Chiara Belcaro, Amarnath Bhide
OBJECTIVE: To quantify survival and neurodevelopmental outcome of fetuses with prenatally detected isolated severe bilateral ventriculomegaly form published literature. METHODS: Medline, Embase and the Cochrane Library were searched electronically. Only cases with prenatal diagnosis of apparently isolated severe ventriculomegaly and postnatal neurodevelopment assessment were selected and included. Severe ventriculomegaly was defined by the authors as enlargement of the ventricular atria, with a diameter greater than 15 mm on the transventricular plane while all cases where the investigators were unable to detect associated structural abnormality, chromosomal abnormality or fetal infections, and regarded the ventriculomegaly to be apparently isolated were included...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29458877/1p-deletion-syndrome-a-prenatal-diagnosis-characterized-by-an-abnormal-1st-trimester-combined-screening-test-yet-a-normal-nipt-result
#10
Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang
OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29446677/how-to-integrate-cell-free-dna-screening-with-sonographic-markers-for-aneuploidy-an-update
#11
Thomas C Winter, Nancy C Rose
OBJECTIVE: The sonologist detects a so-called "soft marker" during approximately 10% of routine second-trimester anatomy examinations and is often uncertain about what further management is appropriate. This article will specifically address the management of patients with sonographic markers for six common entities: choroid plexus cysts (CPCs), ventriculomegaly (VM), echogenic intracardiac focus (EIF), urinary tract dilation (UTD), fetal echogenic bowel (FEB), and femoral and humeral shortening...
April 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29356709/copy-number-variations-and-fetal-ventriculomegaly
#12
Yan Wang, Ping Hu, Zhengfeng Xu
PURPOSE OF REVIEW: Ventriculomegaly is one of the most common abnormal sonographic findings, which is associated with congenital infection, chromosomal and additional structural abnormalities. Currently, karyotype analysis is the primary method to detect chromosomal abnormalities in fetuses with ventriculomegaly. Recently, with the introduction of chromosomal microarray analysis (CMA) in prenatal diagnosis, copy number variations (CNVs) have been identified in cases of ventriculomegaly...
April 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29353032/clinical-assessment-and-brain-findings-in-a-cohort-of-mothers-fetuses-and-infants-infected-with-zika-virus
#13
Magdalena Sanz Cortes, Ana Maria Rivera, Mayel Yepez, Carolina V Guimaraes, Israel Diaz Yunes, Alexander Zarutskie, Ivan Davila, Anil Shetty, Arun Mahadev, Saray Maria Serrano, Nicolas Castillo, Wesley Lee, Gregory Valentine, Michael Belfort, Guido Parra, Carrie Mohila, Kjersti Aagaard, Miguel Parra Saavedra
BACKGROUND: Congenital Zika virus (ZIKV) infection can be detected in both the presence and absence of microcephaly and manifests as a number of signs and symptoms that are detected clinically and by neuroimaging. However, to date, qualitative and quantitative measures for the purpose of diagnosis and prognosis are limited. OBJECTIVES: Main objectives of this study conducted on fetuses and infants with confirmed congenital Zika virus infection and detected brain abnormalities were (1) to assess the prevalence of microcephaly and the frequency of the anomalies that include a detailed description based on ultrasound and magnetic resonance imaging in fetuses and ultrasound, magnetic resonance imaging, and computed tomography imaging postnatally, (2) to provide quantitative measures of fetal and infant brain findings by magnetic resonance imaging with the use of volumetric analyses and diffusion-weighted imaging, and (3) to obtain additional information from placental and fetal histopathologic assessments and postnatal clinical evaluations...
April 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#14
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29287023/single-shot-version-of-flair-sequence-in-the-detection-of-intraventricular-anomalies-preliminary-experience-in-fetal-mr-imaging
#15
Giorgia Falanga, Marco Moscatelli, Giana Izzo, Cecilia Parazzini, Chiara Doneda, Andrea Righini
OBJECTIVE: To evaluate single-shot (ss) FLAIR sequence in the detection of intraventricular anomalies in a series of fetuses showing mild-moderate ventriculomegaly at ultrasound. SUBJECTS AND METHODS: Fetuses with mild-moderate isolated ventriculomegaly, which underwent MR imaging between 2003 and 2014 were considered eligible. Fetuses were examined by standard MR protocol and ss-FLAIR sequence, tailored for snapshot imaging. Two paediatric neuroradiologists evaluated MR images...
December 28, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/29251798/lateral-ventricular-volume-measurement-by-3d-mr-hydrography-in-fetal-ventriculomegaly-and-normal-lateral-ventricles
#16
Si-Xiu Zhao, Yun-Hua Xiao, Fu-Rong Lv, Zhi-Wei Zhang, Bo Sheng, Hong-Li Ma
BACKGROUND: In fetuses with prenatal ventriculomegaly (VM), ventricular volume on MRI has been shown to correlate with poor postnatal outcomes and in utero death. 3D magnetic resonance hydrography (MRH) has been widely used for MR cholangiopancreatography. PURPOSE: To investigate the reliability of 3D MRH for lateral ventricular volume measurement in fetuses with VM and normal lateral ventricles, using manual multisection planimetry (MSP) as a reference standard...
December 18, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29196812/early-elective-delivery-for-fetal-ventriculomegaly-are-neurosurgical-and-medical-complications-mitigated-by-this-practice
#17
Clinton D Morgan, Travis R Ladner, George L Yang, Marjorie N Moore, Russell D Parks, William F Walsh, John C Wellons, Chevis N Shannon
PURPOSE: Antenatally diagnosed ventriculomegaly (VM) requires the balance of risks of neurological injury with premature delivery. The purpose of this study was to evaluate outcomes related to early elective delivery due to fetal VM at our institution. METHODS: We retrospectively assessed 120 babies (2008-2012) with antenatally diagnosed fetal VM. Inclusion criteria for ("early") cohort were (1) elective delivery occurred for expedited neurosurgical intervention between 32 and 36 weeks EGA and (2) fetal VM noted on official antenatal ultrasound...
December 1, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29181810/imaging-findings-in-congenital-zika-virus-infection-syndrome-an-update
#18
Andrea Silveira de Souza, Patrícia Soares de Oliveira-Szjenfeld, Adriana Suely de Oliveira Melo, Luis Alberto Moreira de Souza, Alba Gean Medeiros Batista, Fernanda Tovar-Moll
BACKGROUND: Zika virus (ZIKV) is a neurotropic and neurotoxic RNA Flavivirus prompt to cause severe fetal brain dysmorphisms during pregnancy, a period of rapid and critical central nervous system development. A wide range of clinico-radiological findings of congenital ZIKV infections were reported in the literature, such as microcephaly, overlapping sutures, cortical migrational and corpus callosum abnormalities, intracranial calcifications, ventriculomegaly, brain stem and cerebellar malformations, spinal cord involvement, and joint contractures...
January 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29167994/congenital-zika-virus-infection-a-neuropathological-review
#19
L Chimelli, E Avvad-Portari
BACKGROUND: A relationship between Zika virus (ZikV) infection in pregnancy and the occurrence of microcephaly was established during the Zika outbreak in Brazil (2015-2016). Neuropathological findings in congenital Zika syndrome helped to understand its pathogenetic mechanisms. RESULTS: The most relevant postmortem findings in the central nervous system (CNS) of fetuses and neonates infected with ZikV early in gestation are microcephaly with ex-vacuo ventriculomegaly and large head circumference associated with obstructive hydrocephalus due to severe midbrain and aqueduct distortion...
January 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29166461/presumed-zika-virus-related-congenital-brain-malformations-the-spectrum-of-ct-and-mri-findings-in-fetuses-and-newborns
#20
José Daniel Vieira de Castro, Licia Pacheco Pereira, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar, Joanira Costa Nogueira Maia, Jesus Irajacy Fernandes da Costa, Eveline Campos Monteiro de Castro, Francisco Edson de Lucena Feitosa, Francisco Herlânio Costa Carvalho
OBJECTIVE: The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection...
October 2017: Arquivos de Neuro-psiquiatria
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