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Fetal CNS anomalies

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By M Munn
G Gandolfi Colleoni, E Contro, A Carletti, T Ghi, G Campobasso, G Rembouskos, G Volpe, G Pilu, P Volpe
OBJECTIVE: To evaluate the accuracy of fetal imaging in differentiating between diagnoses involving posterior fossa fluid collections and to investigate the postnatal outcome of affected infants. METHODS: This was a retrospective study of fetuses with posterior fossa fluid collections, carried out between 2001 and 2010 in two referral centers for prenatal diagnosis. All fetuses underwent multiplanar neurosonography. Parents were also offered fetal magnetic resonance imaging (MRI) and karyotyping...
June 2012: Ultrasound in Obstetrics & Gynecology
F D'Antonio, A Khalil, C Garel, G Pilu, G Rizzo, T Lerman-Sagie, A Bhide, B Thilaganathan, L Manzoli, A T Papageorghiou
OBJECTIVE: To explore the outcome in fetuses with prenatal diagnosis of posterior fossa anomalies apparently isolated on ultrasound imaging. METHODS: MEDLINE and EMBASE were searched electronically utilizing combinations of relevant medical subject headings for 'posterior fossa' and 'outcome'. The posterior fossa anomalies analyzed were Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). The outcomes observed were rate of chromosomal abnormalities, additional anomalies detected at prenatal magnetic resonance imaging (MRI), additional anomalies detected at postnatal imaging and concordance between prenatal and postnatal diagnoses...
June 2016: Ultrasound in Obstetrics & Gynecology
F D'Antonio, A Khalil, C Garel, G Pilu, G Rizzo, T Lerman-Sagie, A Bhide, B Thilaganathan, L Manzoli, A T Papageorghiou
OBJECTIVES: Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate clinical personnel, and the reported rate is often affected by the adoption of different nomenclature, diagnostic criteria, outcome measures, duration of follow-up and neurodevelopmental tools. The aim of this systematic review was to explore the neurodevelopmental outcome of fetuses with a prenatal diagnosis of isolated posterior fossa anomalies...
July 2016: Ultrasound in Obstetrics & Gynecology
Thangamadhan Bosemani, Gunes Orman, Eugen Boltshauser, Aylin Tekes, Thierry A G M Huisman, Andrea Poretti
The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential)...
January 2015: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Rabih Chaoui, Kai-Sven Heling, Yili Zhao, Elena Sinkovskaya, Alfred Abuhamad, Katrin Karl
OBJECTIVES: The cavum septi pellucidi (CSP) is an easily recognizable landmark in the fetal brain. CSP disappears after birth to form the septum pellucidum. Children with microdeletion 22q11 (del. 22q11) were, however, reported to have a persistent dilated CSP. This study was designed to examine whether the CSP is dilated in fetuses with del.22q11. METHODS: This was a case-control study where the CSP width was measured in normal fetuses from 16 to 34 weeks and in fetuses with del...
October 2016: Prenatal Diagnosis
Dinesh K Sundarakumar, Sarah A Farley, Crysela M Smith, Kenneth R Maravilla, Manjiri K Dighe, Jason N Nixon
The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark, and its absence often signifies additional underlying malformations. Frequently detected by prenatal sonography, absence of the CSP requires further imaging with pre- or postnatal MRI to characterize the accompanying abnormalities. This article reviews the developmental anatomy of the CSP and the pivotal role of commissurization in normal development. An understanding of the patterns of commissural abnormalities associated with absence of the CSP can lead to improved characterization of the underlying spectrum of pathology...
July 2015: Pediatric Radiology
Thomas C Winter, Anne M Kennedy, Paula J Woodward
Structural malformations of the brain are an important cause of childhood mortality and morbidity, with the latter having long-term financial and psychosocial implications for the affected child and family. Holoprosencephaly (HPE) is a severe brain malformation characterized by abnormal cleavage of the prosencephalon in the 5th gestational week. Aprosencephaly and atelencephaly occur earlier because of failure in the formation of the prosencephalon and telencephalon, respectively. The HPE holoprosencephaly spectrum classically includes alobar, semilobar, and lobar forms, although there are no clear-cut defining features...
January 2015: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Stephanie Greene, Philip S Lee, Christopher P Deibert, Zachary J Tempel, Nathan T Zwagerman, Karen Florio, Christopher M Bonfield, Stephen P Emery
BACKGROUND: Controversy exists regarding the optimal route of delivery for fetuses who are diagnosed prenatally with myelomeningocele. Current recommendations are based partly on antiquated studies with questionable methods. All studies that have been published to date suffer from nonstandardized outcome measures, selection bias, and small sample size. The larger studies are >15 years old. OBJECTIVE: The purpose of this study was to provide information for evidence-based decision-making regarding the impact of route of delivery on motor outcomes for pediatric patients with prenatally were diagnosed myelomeningocele in a well-defined retrospective cohort...
October 2016: American Journal of Obstetrics and Gynecology
Ashley James Robinson, M Ashraf Ederies
Ultrasound and magnetic resonance imaging are the two imaging modalities used in the assessment of the fetus. Ultrasound is the primary imaging modality, whereas magnetic resonance is used in cases of diagnostic uncertainty. Both techniques have advantages and disadvantages and therefore they are complementary. Standard axial ultrasound views of the posterior fossa are used for routine scanning for fetal anomalies, with additional orthogonal views directly and indirectly obtainable using three-dimensional ultrasound techniques...
October 2016: Seminars in Fetal & Neonatal Medicine
C Scala, A Familiari, A Pinas, A T Papageorghiou, A Bhide, B Thilaganathan, A Khalil
OBJECTIVES: The majority of the studies have focused on the perinatal and long-term outcomes in fetuses with antenatal diagnosis of bilateral ventriculomegaly. The aim of this study was to undertake a systematic review and meta-analysis to quantify the perinatal and long-term outcome of fetuses diagnosed with isolated unilateral ventriculomegaly during the second- or third- trimester of pregnancy. METHODS: Medline, and Embase and The Cochrane Library were searched electronically...
April 19, 2016: Ultrasound in Obstetrics & Gynecology
Sandeep Ghai, Katherine W Fong, Ants Toi, David Chitayat, Sophia Pantazi, Susan Blaser
The cerebral cortex develops in three overlapping stages: cell proliferation, neuronal migration, and cortical organization. Abnormal neuronal migration may result in lissencephaly, which is characterized by either the absence (agyria) or the paucity (pachygyria) of cerebral convolutions. The two main clinicopathologic types of lissencephaly may be differentiated according to their prenatal imaging features. Other cranial and extracranial abnormalities also may occur in association with lissencephaly. The prognosis is often poor, but prenatal diagnosis allows appropriate counseling and optimization of obstetric management...
March 2006: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Halil Aslan, Kemal Gungorduk, Doğukan Yildirim, Oğuz Aslan, Gokhan Yildirim, Yavuz Ceylan
We describe the abnormal sonographic findings in the brain of a 26-week fetus, which increased the suspicion of isolated lissencephaly. Follow-up ultrasound examination and MRI depicted diffuse cortical agyria, microcephaly, hypotelorism, and proptosis. Cordocentesis showed a normal 46,XY karyotype, and no short arm deletion of chromosome 17 was detectable. Postmortem examination confirmed complete agyria of the whole fetal brain. Early detection of fetal microcephaly and other cranial abnormalities can be a sign of isolated lissencephaly and need to be evaluated carefully with ultrasound and MRI for detection of abnormal cortical development of the fetal brain...
May 2009: Journal of Clinical Ultrasound: JCU
A Toi, W S Lister, K W Fong
OBJECTIVES: To evaluate the time of appearance and pattern of development of fetal cerebral sulci at prenatal ultrasound. METHODS: We studied 50 normal fetuses for visibility of cerebral sulci, especially sulci which appear early in anatomical studies, namely the parieto-occipital fissure, calcarine sulcus, cingulate sulcus, convexity sulci and insula/Sylvian fissure. The gestational ages of the fetuses studied ranged from 15.6 to 29.6 weeks. RESULTS: Sulci could be seen by transabdominal ultrasound as early as 18...
December 2004: Ultrasound in Obstetrics & Gynecology
Beverly G Coleman, Jill E Langer, Steven C Horii
Myelomeningocele (MMC) is one of the most devastating, nonlethal congenital anomalies worldwide. The live birth prevalence of MMC changed dramatically in the 1980s with the introduction of maternal serum screening and the widespread use of prenatal ultrasound imaging. The high-resolution ultrasound affordable today with state-of-the-art equipment allows us to make a very accurate diagnosis of MMC, including details related to the entire fetal central nervous system. Ultrasound can accurately localize the site of the osseous and soft tissue defects...
2015: Fetal Diagnosis and Therapy
Zeki Sahinoglu, Mehmet Uludogan, Mehmet N Delikara
Several cases of enlarged cavum vergae have been reported, but prenatal diagnosis of this condition is very rare. We report 3 cases of dilated cavum vergae diagnosed prenatally using sonography. In 1 of the 3 fetuses, ventriculomegaly and lumbar meningomyelocele were additional sonographic findings. In 1 of the 3 infants, a stereotactic cyst-peritoneal shunt was placed at 6 months of age to relieve intracranial hypertension due to progressive enlargement of the cavum vergae. The infant who had a meningomyelocele required surgical repair of this defect shortly after birth; in the third infant, the dilated cavum vergae remained asymptomatic, and no surgery was necessary...
July 2002: Journal of Clinical Ultrasound: JCU
José Morales-Roselló, Rafael Lázaro-Santander
A 30-year-old woman with a normal first trimester Down syndrome screening attended our ultrasound unit for a 20-week scan. The most remarkable anomalies were the presence of a right aortic arch along with a dilated cavum septi pellucidi. In addition, the scan showed an atrioventricular canal and bilateral choroid plexus cysts. Fetal karyotype showed the existence of trisomy 21. A novel association between Down syndrome and dilated cavum septi pellucidi is reported and the relationship between DS and vascular rings is discussed...
2012: Case Reports in Obstetrics and Gynecology
Peter W Callen, Andrew L Callen, Orit A Glenn, Ants Toi
OBJECTIVE: Visualization of the cavum septi pellucidi (CSP) is considered an integral part of the prenatal second-and third-trimester sonographic evaluations of the fetal neural axis. We have noted that another anatomic structure, the columns of the fornix, can be mistaken for the CSP and result in the missed diagnosis of agenesis of the corpus callosum. METHODS: We describe a case in which the columns of the fornix were misinterpreted as representing the CSP during a sonographic evaluation at 18 weeks' gestation...
January 2008: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Prakesh S Shah, Susan Blaser, Ants Toi, Katherine Fong, Phyllis Glanc, Riyana Babul-Hirji, James Rutka, David Chitayat
We describe the finding of cavum veli interpositi (CVI) on fetal ultrasound and MRI and the postnatal MRI and developmental follow-up in two cases. The first case was diagnosed on fetal ultrasound at 33 weeks' gestation and confirmed on fetal MRI. No abnormalities were detected on postnatal examinations and the brain MRI at 1 year of age showed no changes. At 4 years of age, his growth and development were normal.The second case was diagnosed with CVI on fetal ultrasound and MRI at 33.5 weeks' gestation. Postnatal examination showed no abnormalities, and brain MRI at 8 months of age revealed that the CVI was unchanged, but there was a dilated cavum septum pellucidum and cavum vergae...
July 2005: Prenatal Diagnosis
G Malinger, D Lev, M Oren, T Lerman-Sagie
OBJECTIVES: To describe a cohort of fetuses with non-visualization of the cavum septi pellucidi (CSP) without callosal agenesis and to assess the significance of this finding with respect to postnatal development. METHODS: We reviewed the files of all patients referred because of suspected fetal supratentorial midline anomalies, and identified those fetuses with a diagnosis of non-visualization or obliteration of the CSP. RESULTS: From an initial cohort of 114 patients we identified 23 cases...
August 2012: Ultrasound in Obstetrics & Gynecology
Thomas C Winter, Anne M Kennedy, Jan Byrne, Paula J Woodward
OBJECTIVE: The cavum septi pellucidi (CSP) is routinely imaged in the fetal brain during obstetric sonography; in fact, for well over a decade, assessment of the CSP has been considered part of the required elements of a standard examination of fetal morphology in guidelines developed by multiple specialty societies. Our objective is to present the 4 reasons why all practicing sonologists and sonographers should be familiar with this anatomic structure. METHODS: Prenatal sonograms and magnetic resonance imaging examinations are used to review the following topics: terminology, embryology, and anatomy of the CSP; pitfalls in its identification; and a wide variety of abnormalities (predominantly relating to nonvisualization) associated with the CSP...
March 2010: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
2016-03-27 15:05:20
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