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Balani A, Sidpra J, Sudhakar S, Biswas A, Öztekin Ö, Capra V, Catala M, Copp AJ, Kumar N, Johal N, Tahir MZ, Thompson D, Pang D, Mirsky DM, Ho ML, Huisman TAGM, Rossi A, Mankad K. International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal Cord. AJNR Am J Neuroradiol 2024; 45:ajnr.A8117. [PMID: 38360788 PMCID: PMC11288609 DOI: 10.3174/ajnr.a8117] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/22/2023] [Accepted: 11/13/2023] [Indexed: 02/17/2024]
Abstract
Dysraphic malformations of the spine and spinal cord (DMSSC) represent a spectrum of common congenital anomalies typically (though not exclusively) affecting the lower spinal segments. These may be responsible for varying degrees of neurologic, orthopedic, and urologic morbidity. With advances in neuroimaging, it is now possible to better diagnose and evaluate these disorders both prenatally and postnatally. Neuroimaging, performed at the right time and with technique optimization, is integral in guiding clinical management. However, the terminology used to describe these lesions has become increasingly confusing, and there is a lack of consensus regarding the essential radiologic features and their clinical weighting. This variability in radiologic practice risks unstructured decision making and increases the likelihood of suboptimal, less informed clinical management. In this manuscript, the first of a series of consensus statements, we outline a standardized international consensus statement for the radiologic evaluation of children with suspected DMSSC derived from a critical review of the literature, and the collective clinical experience of a multinational group of experts. We provide recommendations for plain radiography, sonography, CT, and MR imaging in the evaluation of DMSSC with an emphasis on technique of imaging and imaging protocols.
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Affiliation(s)
- Ankit Balani
- From the Department of Neuroradiology (A. Balani, J.S., S.S., A. Biswas, K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - Jai Sidpra
- From the Department of Neuroradiology (A. Balani, J.S., S.S., A. Biswas, K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- Developmental Biology and Cancer Section (J.S., A.J.C., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
| | - Sniya Sudhakar
- From the Department of Neuroradiology (A. Balani, J.S., S.S., A. Biswas, K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - Asthik Biswas
- From the Department of Neuroradiology (A. Balani, J.S., S.S., A. Biswas, K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - Özgür Öztekin
- Department of Neuroradiology (Ö.Ö.), Izmir Bakircay University, Izmir, Turkey
| | - Valeria Capra
- Medical Genetics Unit (V.C.), IRCCS Istituto Giannina Gaslini, Genoa, Italy
| | - Martin Catala
- Laboratoire de Biologie du Développement (M.C.), UMR 7622 de Sorbonne Université et du CNRS, ERL 1156 de l'INSERM et Institut de Biologie Paris Seine, Paris, France
| | - Andrew J Copp
- Developmental Biology and Cancer Section (J.S., A.J.C., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
| | - Neetu Kumar
- Department of Urology (N.K., N.J.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - Navroop Johal
- Department of Urology (N.K., N.J.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - M Zubair Tahir
- Department of Neurosurgery (M.Z.T., D.T., D.P.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - Dominic Thompson
- Department of Neurosurgery (M.Z.T., D.T., D.P.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - Dachling Pang
- Department of Neurosurgery (M.Z.T., D.T., D.P.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- Department of Paediatric Neurosurgery (D.P.), University of California, Davis, Davis, California
| | - David M Mirsky
- Department of Radiology (D.M.M.), Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado
| | - Mai-Lan Ho
- Department of Radiology (M.-L.H.), Nationwide Children's Hospital, Ohio State University, Columbus, Ohio
| | - Thierry A G M Huisman
- Edward B. Singleton Department of Radiology (T.A.G.M.H.), Texas Children's Hospital and Baylor College of Medicine, Houston, Texas
| | - Andrea Rossi
- Neuroradiology Unit (A.R.), IRCCS Istituto Giannina Gaslini, Genoa, Italy
- Department of Health Sciences (A.R.), University of Genoa, Genoa, Italy
| | - Kshitij Mankad
- From the Department of Neuroradiology (A. Balani, J.S., S.S., A. Biswas, K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- Developmental Biology and Cancer Section (J.S., A.J.C., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
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Avoiding the antenatal counselling faux pas: bridging the gap between prenatal prognostication and postnatal outcome of closed spina bifida. Childs Nerv Syst 2022; 38:1751-1762. [PMID: 35665838 DOI: 10.1007/s00381-022-05562-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/26/2022] [Accepted: 05/24/2022] [Indexed: 11/27/2022]
Abstract
PURPOSE Closed spina bifida (CSB) is rare in prenatal literature, and various lesions are grouped under this broad nosological entity CSB, leading to confusing and misleading prognostic conclusions. METHODS This is a retrospective observational cohort study of prenatally detected CSB cases using two-dimensional ultrasound, complemented by three-dimensional ultrasonography and foetal MRI in indicated cases, from October 2014 to October 2021 in a tertiary-level single centre. RESULTS The most common upper vertebral level of CSB was lumbar in 66.6% (10/15). The sub-classification of lesions based on prenatal ultrasound showed an agreement in 53% of the cases. Sixty percent had associated abnormalities identified postnatally, the most common being anorectal malformation seen in 33.3%. On postnatal follow-up, 46.6% had bowel incontinence and bladder dysfunction, and 33.3% developed lower limb deformities. CONCLUSIONS All CSBs do not have a uniformly favourable prognosis. The prognosis of CSB depends on the pathological type, the presence of associated abnormalities and the management.
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Gao G, Tao B, Chen Y, Yang J, Sun M, Wang H, Hao F, Liu S, Wang M, Shang A. Fetal magnetic resonance imaging in the diagnosis of spinal cord neural tube defects: A prospective study. Front Neurol 2022; 13:944666. [PMID: 36003299 PMCID: PMC9393549 DOI: 10.3389/fneur.2022.944666] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/15/2022] [Accepted: 07/13/2022] [Indexed: 11/13/2022] Open
Abstract
Objective This study aimed to evaluate the value of fetal magnetic resonance imaging (MRI) in the prenatal diagnosis of spinal neural tube defects. Methods From August 2018 to January 2021, 56 fetuses with suspected spinal cord neural tube defects were treated by prenatal ultrasound in the Neurosurgery Department of the First Medical Center of the People's Liberation Army General Hospital. Fetal MRI was performed within 72 h after ultrasound diagnosis. Forty singleton fetuses were selected. Magnetic resonance examination was performed within 1 month after birth, and the diagnostic coincidence rates of prenatal ultrasound and fetal magnetic resonance examination in the prenatal diagnosis of spinal cord neural tube defects were compared and analyzed using postnatal magnetic resonance examination as the standard. Results The coincidence rates of prenatal ultrasound and fetal MRI for the prenatal diagnosis of spina bifida were 71.4% (20/28) and 39.2% (11/28), respectively, and the difference was statistically significant. The coincidence rates of prenatal ultrasound and fetal MRI in the diagnosis of intraspinal lipoma were 52.6% (10/19) and 73.7% (14/19), respectively, and the difference was statistically significant. Conclusion Fetal MRI has an advantage over prenatal ultrasound in detecting intraspinal lipoma. Prenatal ultrasound has an advantage over fetal MRI in detecting spina bifida.
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Affiliation(s)
- Gan Gao
- Department of Neurosurgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
| | - Benzhang Tao
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
- Tianjin Medical University, Tianjin, China
| | - Yanyan Chen
- Department of Anesthesiology, The 960th Hospital of the Chinese People's Liberation Army (PLA), Taian, China
| | - Jiaqi Yang
- Department of Neurosurgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China
| | - Mengchun Sun
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
| | - Hui Wang
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
| | - Fangbin Hao
- Department of Neurosurgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
| | - Simeng Liu
- Department of Neurosurgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
| | - Minjie Wang
- Department of Neurosurgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
| | - Aijia Shang
- Department of Neurosurgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China
- Chinese People's Liberation Army (PLA) Medical School, Beijing, China
- *Correspondence: Aijia Shang
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Sacral Spina Bifida Occulta: A Frequency Analysis of Secular Change. ANTHROPOLOGICAL REVIEW 2022. [DOI: 10.18778/1898-6773.85.2.02] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/18/2022] Open
Abstract
Substantial relaxation of natural selection beginning around 1900 changed the mutation/selection balance of modern genetic material, producing an increase in variable anatomical structures. While multiple structures have been affected, the temporal increase in variations of the sacrum, specifically, ‘Sacral Spina Bifida Occulta,’ have been reliably demonstrated on a localised scale. Calculation of largescale frequency has been hindered by the localised nature of these publications, the morphological variability of this variation, and potential pathological associations, which have produced divergent classifications, and conflicting reported rates of occurrence. A systematic review of the reported literature was conducted to provide an objective analysis of Sacral Spina Bifida Occulta frequency from 2500 BCE to the present. This review was designed to compensate for observed inconsistencies in reporting and to ascertain, for the first time, the temporal trajectory of this secular trend. A systematic review of Sacral Spina Bifida Occulta literature was conducted through the strict use of clinical meta-analysis criteria. Publications were retrieved from four databases: PubMed, Embase, the Adelaide University Library database, and Google Scholar. Data were separated into three historical groups, (1 = <1900, 2 = 1900 to 1980 and 3 = >1980), and frequency outcomes compared, to determine temporal rates of occurrence.
A total of 39/409 publications were included in the final analysis, representing data for 16,167 sacra, spanning a period of 4,500 years. Statistically significant results were obtained, with total open S1 frequency increasing from 2.34%, (79 to 1900CE), to 4.80%, (1900 to 1980CE) and to 5.43% (>1980CE). These increases were significant at p<0.0001, with Chi-squared analysis. A clear secular increase in the global frequency of Sacral Spina Bifida Occulta has been demonstrated from 1900 to the present. This research provides a novel and adaptable framework for the future assessment of variation distribution, with important implications for the fields of biological anthropology and bioarchaeology.
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[Prenatal ultrasound prognostic of myelomeningocele at the era of fetal surgery]. ACTA ACUST UNITED AC 2021; 49:617-629. [PMID: 34020095 DOI: 10.1016/j.gofs.2021.05.003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/11/2020] [Indexed: 11/21/2022]
Abstract
Myelomeningocele (MMC) is a severe congenital condition responsible for motor and sensory impairments of the lower limbs, incontinence and cognitive impairment. Its screening, sometimes as early as the first trimester, is one of the major goals of modern prenatal care, supported by the emergence of prenatal surgery that results in a significant improvement in motor function, ambulation and ventriculoperitoneal shunt rate in patients undergoing in-utero surgery. From screening to pre- and post-operative prognostic evaluation, prenatal ultrasound is now an essential tool in the antenatal management of this condition. Using the multi planar and three-dimensional modes, it can be used to assess the vertebral level of MMC, which remains the key antenatal prognostic marker for motor function and ambulation, incontinence and the need for a ventriculo-peritoneal shunt. A careful and systematic ultrasound examination also makes it possible to assess the severity and progression of ventriculomegaly, to search for associated cerebral, spinal cord or vertebral anomalies, or to rule out exclusion criteria for in-utero surgery such as severe kyphosis or serious cortical anomalies. New tools from post-natal evaluation, such as the "metameric" ultrasound assessment of lower limb mobility, appear to be promising either for the initial examination or after in-utero surgery. Ultrasonography, associated with fetal MRI, cytogenetic and next generation sequencing, now allows a highly customized prognostic evaluation of these fetuses affected by MMC and provides the parents with the best possible information on the expected benefits and limitations of fetal surgery.
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Ntimbani J, Kelly A, Lekgwara P. Myelomeningocele - A literature review. INTERDISCIPLINARY NEUROSURGERY-ADVANCED TECHNIQUES AND CASE MANAGEMENT 2020. [DOI: 10.1016/j.inat.2019.100502] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/26/2022]
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De Catte L, De Keersmaecker B, Joyeux L, Aertsen M. Sonography of the Fetal Central Nervous System. FETAL MEDICINE 2020:275-304.e5. [DOI: 10.1016/b978-0-7020-6956-7.00028-2] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2025]
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Abstract
Disorders of the developing nervous system may be of genetic origin, comprising congenital malformations of spine and brain as well as metabolic or vascular disorders that affect normal brain development. Acquired causes include congenital infections, hypoxic-ischemic or traumatic brain injury, and a number of rare neoplasms. This chapter focuses on the clinical presentation and workup of neurogenetic disorders presenting in the fetal or neonatal period. After a summary of the most frequent clinical presentations, clues from history taking and clinical examination are illustrated with short case reports. This is followed by a discussion of the different tools available for the workup of neurogenetic disorders, including the various genetic techniques with their advantages and disadvantages. The implications of a molecular genetic diagnosis for the patient and family are addressed in the section on counseling. The chapter concludes with a proposed workflow that may help the clinician when confronted with a potential neurogenetic disorder in the fetal or neonatal period.
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Prenatal Ultrasound Diagnosis of Diastematomyelia at 11–14 Week Scan. JOURNAL OF FETAL MEDICINE 2017. [DOI: 10.1007/s40556-017-0135-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]
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Trigubo D, Negri M, Salvatico RM, Leguizamón G. The role of intrauterine magnetic resonance in the management of myelomenigocele. Childs Nerv Syst 2017; 33:1107-1111. [PMID: 28516216 DOI: 10.1007/s00381-017-3418-x] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/11/2017] [Accepted: 04/13/2017] [Indexed: 12/26/2022]
Abstract
OBJECTIVE To assess the role of magnetic resonance imaging (MRI) in the management of myelomenigocele. BACKGROUND Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the defective closure of the neural tube early in gestation. Myelomeningocele is the most common type of NTD that is compatible with life, with high survival rates but lifelong physical impairments. CONCLUSION MRI is an important adjunct to ultrasound in assessing NTD, as it pertains to pre-surgical planning and perinatal management. However, it should not be considered a replacement for ultrasonography, which continues to be the gold standard for fetal anatomic evaluation.
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Affiliation(s)
- Denise Trigubo
- High Risk Pregnancy Unit, Department of Obstetrics & Gynecology, C.E.M.I.C. University, Buenos Aires, Argentina
| | - Mercedes Negri
- High Risk Pregnancy Unit, Department of Obstetrics & Gynecology, C.E.M.I.C. University, Buenos Aires, Argentina
| | - Rosana Mabel Salvatico
- Department of Radiology (FLENI), Centro Diagnostico Rossi and Medical Institution Dr Pedro Lylyk, Buenos Aires, Argentina
| | - Gustavo Leguizamón
- High Risk Pregnancy Unit, Department of Obstetrics & Gynecology, C.E.M.I.C. University, Buenos Aires, Argentina.
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Sepulveda W, Wong AE, Sepulveda F, Alcalde JL, Devoto JC, Otayza F. Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery. Childs Nerv Syst 2017; 33:1083-1099. [PMID: 28593553 DOI: 10.1007/s00381-017-3445-7] [Citation(s) in RCA: 31] [Impact Index Per Article: 3.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/03/2017] [Accepted: 04/28/2017] [Indexed: 12/11/2022]
Abstract
Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.
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Affiliation(s)
- Waldo Sepulveda
- FETALMED - Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Estoril 50, Suites 203 & 515, Las Condes, 7591047, Santiago, Chile.
| | - Amy E Wong
- Department of Maternal-Fetal Medicine, Palo Alto Medical Foundation, Mountain View, CA, 94040, USA
| | - Francisco Sepulveda
- FETALMED - Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Estoril 50, Suites 203 & 515, Las Condes, 7591047, Santiago, Chile
| | - Juan L Alcalde
- Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile
| | - Juan C Devoto
- Department of Anesthesiology, Clinica Las Condes, Santiago, Chile
| | - Felipe Otayza
- Department of Neurosurgery, Clinica Las Condes, Santiago, Chile
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Rethmann C, Scheer I, Meuli M, Mazzone L, Moehrlen U, Kellenberger CJ. Evolution of posterior fossa and brain morphology after in utero repair of open neural tube defects assessed by MRI. Eur Radiol 2017; 27:4571-4580. [DOI: 10.1007/s00330-017-4807-y] [Citation(s) in RCA: 19] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/25/2016] [Revised: 02/23/2017] [Accepted: 03/13/2017] [Indexed: 11/29/2022]
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Wang LL, Bierbrauer KS. Congenital and Hereditary Diseases of the Spinal Cord. Semin Ultrasound CT MR 2017; 38:105-125. [PMID: 28347415 DOI: 10.1053/j.sult.2016.07.002] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
Congenital anomalies of the spinal cord can pose a diagnostic dilemma to the radiologist. Several classification systems of these anomalies exist. Antenatal ultrasound and fetal magnetic resonance imaging is playing an increasingly important role in the early diagnosis and management of patients. Understanding the underlying anatomy as well as embryology of these disorders can be valuable in correctly identifying the type of spinal cord dysraphic defect. Hereditary spinal cord diseases are rare but can be devastating. When the onset is in adulthood, delay in diagnosis is common. Although the spine findings are nonspecific, some imaging features combined with brain imaging findings can be distinctive. Sometimes, the radiologist may be the first to raise the possibility of these disorders.
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Affiliation(s)
- Lily L Wang
- Department of Radiology, University of Cincinnati Medical Center, Cincinnati, OH; Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, OH.
| | - Karin S Bierbrauer
- Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, OH
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Wilson RD. Anomalies fœtales affectant le tube neural : Dépistage / diagnostic prénatal et prise en charge de la grossesse. JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA 2017; 38:S496-S511. [PMID: 28063560 DOI: 10.1016/j.jogc.2016.09.059] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/20/2022]
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Sivrikoz TS, Has R, Esmer AC, Kalelioglu I, Yuksel A, Taskin OC. Prenatal diagnosis of tethered spinal cord associated with sacrococcygeal teratoma. JOURNAL OF CLINICAL ULTRASOUND : JCU 2016; 44:506-509. [PMID: 26892808 DOI: 10.1002/jcu.22344] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/22/2015] [Revised: 01/10/2016] [Accepted: 01/20/2016] [Indexed: 06/05/2023]
Abstract
Tethered spinal cord is mostly caused by myelomeningocele and lipomyelomeningocele, while dermal sinus tract, diastematomyelia, lipoma, tumor, thickened/tight filum terminale, spinal trauma, and spinal surgery are among the other causes. Prenatal diagnosis of tethered cord has been reported, and it is usually associated with neural tube defects. We present an atypical presentation of a tethered spinal cord, which was associated with a sacrococcygeal teratoma and was diagnosed in the 23rd week of pregnancy by ultrasonography. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:506-509, 2016.
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Affiliation(s)
- Tugba Sarac Sivrikoz
- Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
| | - Recep Has
- Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
| | - Aytul Corbacioglu Esmer
- Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Kanuni Sultan Suleyman Research and Teaching Hospital, Istanbul, Turkey.
| | - Ibrahim Kalelioglu
- Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
| | - Atil Yuksel
- Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
| | - Orhun Cig Taskin
- Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
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Upasani VV, Ketwaroo PD, Estroff JA, Warf BC, Emans JB, Glotzbecker MP. Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling. World J Orthop 2016; 7:406-417. [PMID: 27458551 PMCID: PMC4945507 DOI: 10.5312/wjo.v7.i7.406] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/03/2016] [Revised: 04/23/2016] [Accepted: 06/02/2016] [Indexed: 02/06/2023] Open
Abstract
The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician’s ability to counsel expectant parents prenatally.
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Carreras E, Maroto A, Illescas T, Meléndez M, Arévalo S, Peiró JL, García-Fontecha CG, Belfort M, Cuxart A. Prenatal ultrasound evaluation of segmental level of neurological lesion in fetuses with myelomeningocele: development of a new technique. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2016; 47:162-167. [PMID: 26306897 DOI: 10.1002/uog.15732] [Citation(s) in RCA: 39] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/27/2015] [Revised: 07/18/2015] [Accepted: 08/20/2015] [Indexed: 06/04/2023]
Abstract
OBJECTIVES To report our preliminary experience in the use of prenatal ultrasound examination to assess lower-limb movements in fetuses with myelomeningocele. We aimed to determine the accuracy of this method to establish the segmental level of neurological lesion, as this is the best known predictor of the future ability to walk. METHODS This was a preliminary, observational study including fetuses with myelomeningocele operated on prenatally. The patterns of movements present and absent in the affected fetuses' lower limbs were evaluated systematically by ultrasound examination. According to the known nerve function associated with each muscle group, the segmental level of neurological lesion was established before birth. The agreement for the segmental levels assigned, between the prenatal ultrasound technique and the classical neurological clinical examination after birth (gold standard), was tested using the weighed kappa (wκ) index. RESULTS Seventy-one fetuses with myelomeningocele were evaluated at the Hospital Universitari Vall d'Hebron. After counseling, the parents opted for prenatal surgery (26 cases), termination of pregnancy (43 cases) or postnatal repair (two cases). Five patients did not fulfil the inclusion criteria for prenatal surgery and three were excluded after birth. In the 18 fetuses that underwent surgery and were analyzed, the agreement between prenatal and postnatal segmental levels assigned was 91.7% for the right limb (wκ = 0.80) and 88.9% for the left limb (wκ = 0.73). CONCLUSIONS The agreement found between prenatal and postnatal assignment of level of lesion in this preliminary study suggests that neurological sonographic evaluation is feasible before birth. This may provide accurate individualized information about the motor function and future ambulation prognosis of fetuses with myelomeningocele.
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Affiliation(s)
- E Carreras
- Maternal-Fetal Medicine, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
| | - A Maroto
- Maternal-Fetal Medicine, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
| | - T Illescas
- Maternal-Fetal Medicine, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
| | - M Meléndez
- Physical Medicine and Rehabilitation, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
| | - S Arévalo
- Maternal-Fetal Medicine, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
| | - J L Peiró
- Paediatric Surgery, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
| | - C G García-Fontecha
- Paediatric Orthopaedic Surgery, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
| | - M Belfort
- Maternal-Fetal Medicine, Texas Children's Hospital, Houston, TX, USA
| | - A Cuxart
- Physical Medicine and Rehabilitation, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
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Awareness and uptake of measures for preventing CNS birth defects among mothers of affected children in a sub-Saharan African neurosurgeon's practice. Childs Nerv Syst 2015; 31:2311-7. [PMID: 25930723 DOI: 10.1007/s00381-015-2718-2] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/05/2014] [Accepted: 04/19/2015] [Indexed: 10/23/2022]
Abstract
BACKGROUND The two main measures used in the reduction of the birth prevalence of CNS birth defects are (i) folic acid, FA, supplementation/food fortification for reproductively active women as the primary one, and (ii) timely screening/intrauterine diagnosis, and possibly termination of the affected pregnancies. MATERIALS AND METHODS We performed a cross-sectional survey of the levels of awareness and uptake of these measures in a consecutive cohort of mothers of children with CNS birth defects presenting for neurosurgical treatment in an African clinical practice. RESULTS There were 151 cases, 101 of them neural tube defects, NTDs. The level of awareness of the role of FA in prevention of these defects was low, 18.8%, and dietary multivitamin supplementation was ingested by only10.7% of the study subjects. The mothers' obstetric behavior in the index pregnancies was suboptimal: pregnancy registration and commencement of obstetric supplements were at median gestational age of 4 months, and obstetric ultrasonography was obtained infrequently, and in an unregulated milieu. Only 17.8% of these CNS birth defects were diagnosed prenatally, but >80% of the mothers would have liked to have the intrauterine diagnosis, and about 23% might have asked for termination of these pregnancies. CONCLUSIONS The levels of awareness and uptake of measures for preventing CNS birth defects among mothers of affected children in this sub-Saharan African women cohort are low. Interestingly, many of the mothers were very favorably disposed to receiving, and acting on, the information about the screen detected CNS birth defects in their fetuses.
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Egloff A, Bulas D. Magnetic Resonance Imaging Evaluation of Fetal Neural Tube Defects. Semin Ultrasound CT MR 2015; 36:487-500. [DOI: 10.1053/j.sult.2015.06.004] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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Lyons K, Cassady C, Jones J, Paldino M, Mehollin-Ray A, Guimaraes C, Krishnamurthy R. Current Role of Fetal Magnetic Resonance Imaging in Neurologic Anomalies. Semin Ultrasound CT MR 2015; 36:298-309. [DOI: 10.1053/j.sult.2015.05.012] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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Ovaere C, Eggink A, Richter J, Cohen-Overbeek TE, Van Calenbergh F, Jansen K, Oepkes D, Devlieger R, De Catte L, Deprest JA. Prenatal Diagnosis and Patient Preferences in Patients with Neural Tube Defects around the Advent of Fetal Surgery in Belgium and Holland. Fetal Diagn Ther 2014; 37:226-34. [DOI: 10.1159/000365214] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/08/2014] [Accepted: 06/11/2014] [Indexed: 11/19/2022]
Abstract
Introduction: We review the characteristics and prenatal choices of patients recently evaluated for neural tube defects (NTD) at two tertiary units. The prenatal diagnosis of NTD allows parents to consider all prenatal options. In selected cases of spina bifida aperta this also includes fetal surgery, which we started offering after combined ‘in-house' and ‘exported' training. Material and Methods: This is a retrospective review of prospectively collected data on NTD diagnosed over the last 8 years and recent fetal surgery referrals. Results: A total of 167 patients were referred for assessment at a median of 19 weeks. Cranial lesions were diagnosed significantly earlier than spinal lesions. Of the open spinal lesions, 77% were isolated. Of these, 22% were managed expectantly and 1 (1%) had fetal surgery. There was no correlation between parental decisions on prenatal management with disease-specific severity markers. We had 14 fetal surgery referrals, all but 1 from beyond our typical referral area; 6 of the assessed patients were operated on, 4 were expectantly managed and 4 requested termination of pregnancy (TOP). These pregnancy outcomes were in the expected range. Discussion: Open spina bifida is mainly diagnosed in the second trimester and 76% of subjects request TOP, irrespective of the severity indicators. The number of local patients considering fetal surgery is low.
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Wilson RD, Wilson RD, Audibert F, Brock JA, Campagnolo C, Carroll J, Cartier L, Chitayat D, Gagnon A, Johnson JA, Langlois S, MacDonald WK, Murphy-Kaulbeck L, Okun N, Pastuck M, Popa V. Prenatal Screening, Diagnosis, and Pregnancy Management of Fetal Neural Tube Defects. JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA 2014; 36:927-939. [DOI: 10.1016/s1701-2163(15)30444-8] [Citation(s) in RCA: 55] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
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