scholarly journals The Spectrum of Congenital Central Nervous System Anomalies Among Stillborn: An Autopsy Based Study

2021 ◽  
pp. 097275312199016
Author(s):  
S. P. Vinutha ◽  
D. Narayanappa ◽  
G. V. Manjunath ◽  
M. S. Sujatha ◽  
M. C. Sapna Patel ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Congenital Anomalies ◽  
Developmental Process ◽  
Holistic Approach ◽  
Fetal Autopsy ◽  
Exact Test ◽  
Medical College ◽  
Ultrasound Findings ◽  
Cns Anomalies

Background: Congenital central nervous system (CNS) anomalies are the structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental process. Purpose: The present study aims to detect the prevalence of congenital CNS anomalies among stillborn fetuses, the association between congenital anomalies and maternal factors, and also the association between autopsy and ultrasound findings. Methods: This study was conducted on 50 stillborn fetuses, obtained from the Department of Obstetrics and Gynecology at JSS Medical College and Hospital, Mysuru. The fetuses were fixed in 10% formalin and autopsies were performed as per the standard fetal autopsy protocol. The congenital CNS anomalies were studied in detail. Results: CNS anomalies were the most common congenital anomalies observed. Out of the total 50 stillborn fetuses studied, CNS anomalies were found in 17 fetuses and their occurrence was more common among male stillborn than females. Meningomyelocele was the most common anomaly, followed by anencephaly. The other anomalies documented were meningocele, encephalocele, meningoencephalocele, agenesis of the corpus callosum, craniorachischisis, bifid cerebellum with hypoplastic vermis, holoprosencephaly, and sirenomelia. Fisher’s exact test showed a significant association between maternal hypothyroidism and congenital CNS anomalies ( P < .05). The autopsy confirmed the ultrasound findings in 40 (80%) fetuses. There were significant additional findings observed in seven (14%) fetal autopsies and ultrasound diagnosis completely changed in three (6%) cases, after the final autopsy procedure. Conclusion: The fetal autopsy is the single most directly evident investigation, which gives information that changes or significantly improves the clinical diagnosis. A multidisciplinary holistic approach toward pregnancy will help to detect any kind of abnormality in the fetus and thus to take a timely decision toward the management.

scholarly journals Congenital anomalies of the central nervous system: prevalence in a fetal medicine service in the Brazilian Midwest

2021 ◽  
Author(s):  
Carolina Leão de Moraes ◽  
Fernanda Sardinha de Abreu Tacon ◽  
Andréa de Faria Rezende Matos ◽  
Natália Cruz e Melo ◽  
Michelle Hermínia Mesquita de Castro ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prenatal Care ◽  
Pregnant Women ◽  
Congenital Anomalies ◽  
Fetal Medicine ◽  
Medicine Service ◽  
The Central Nervous System ◽  
Prospective Longitudinal ◽  
Cns Anomalies

Introduction: Approximately 21% of congenital anomalies (CA) involve the Central Nervous System (CNS), constituting one of the most common birth defects, affecting 1 to 10: 1,000 of live births. Objective: To analyze the prevalence of CNS anomalies diagnosed by obstetric ultrasound. Methods: Prospective longitudinal cohort study carried out in a public fetal medicine service in Goiânia with pregnant women who were attended in high-risk prenatal care. The patients were followed up during the ultrasound exams from March 2018 to March 2019. Results: 225 cases of pregnant women with ultrasound diagnoses of CA were surveyed during the investigated period. CNS anomalies were the most prevalent, being present in 34.22% (77/225) of the cases. The mean maternal age of pregnant women was 25.55 years and mean gestational age was 28.84 weeks. Hydrocephalus was identified in 23 pregnant women (29.87%), being the most prevalent CNS anomalie. Anencephaly was present in 24.68% (19/77) and holoprosencephaly in 18.18% (14/77). Other CA were also diagnosed (21/77), such as meningocele, spina bifida, acrania, among others. However, they showed a lower prevalence in relation to hydrocephalus, anencephaly and holoprosencephaly. Conclusion: The findings are essential for the planning and allocation of hospital resources and investment in health. Besides that, to adequate and specific prenatal care, is indispensable in the search for reducing the incidence of these malformations, morbidity and improving survival rates of the affected population.

Isotope cisternography and ventriculography in congenital anomalies of the central nervous system

1975 ◽  
Vol 43 (1) ◽  
pp. 18-26 ◽  
Author(s):  
Franz E. Glasauer
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Congenital Anomalies ◽  
Diagnostic Value ◽  
Content Type ◽  
The Central Nervous System ◽  
Isotope Studies ◽  
Isotope Cisternography ◽  
Csf Absorption ◽  
Cns Anomalies

✓ The author discusses the value of isotope cisternography and ventriculography in the diagnosis of a variety of congenital anomalies of the central nervous system (CNS) associated with either hydrocephalus or a disturbance in cerebrospinal fluid (CSF) flow and absorption. In sincipital encephaloceles the techniques demonstrate CSF communication with the anomalous sac and the frequently associated hydrocephalus with occipital lesions. In porencephaly and cerebral agenesis, the isotope demonstrates ventricular reflux and remains in the cystic dilatation indicating abnormal CSF absorption; isotope ventriculography also reveals a delayed CSF absorption and the possible sites of CSF obstruction in Arnold-Chiari malformations and Dandy-Walker syndrome. In addition to their differential diagnostic value isotope studies can be a helpful guide in the choice of the proper surgical treatment of some CNS anomalies.

scholarly journals Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis

2019 ◽  
Vol 22 (6) ◽  
pp. 546-557
Author(s):  
Camilla Struksnæs ◽  
Harm-Gerd Karl Blaas ◽  
Christina Vogt
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Heart Defects ◽  
World Health ◽  
Chromosomal Anomalies ◽  
Fetal Autopsy ◽  
Autopsy Findings ◽  
Cns Anomalies

ObjectivesCentral nervous system (CNS) anomalies are the second most frequent category of congenital anomalies after congenital heart defects (CHDs). In this study, the aim was to investigate the distribution of different CNS anomalies with associated anomalies and karyotype in a fetal autopsy population of terminated pregnancies over a 30-year period and to correlate the ultrasonographic diagnoses of CNS anomalies with autopsy findings.Materials and MethodsThis study includes 420 intact fetuses with CNS anomalies terminated at gestational ages 11+ 0to 33+ 6over a 30-year period from 1985 to 2014. An ultrasound (US) examination was performed at the National Centre for Fetal Medicine, St. Olavs Hospital, Trondheim. The autopsies were performed at the Department of Pathology at the same hospital or a collaborating hospital. The anomalies were subcategorized according to the classification by the World Health Organization.ResultsNeural tube defects such as anencephaly (22.4%, 107/477) and spina bifida (22.2%, 106/477) constituted the most common CNS anomalies, followed by congenital hydrocephalus (17.8%, 85/477). In total, the karyotype was abnormal in 21.0% of all termination of pregnancies (TOPs), with trisomy 18 as the most frequent abnormal karyotype. CHDs, skeletal anomalies, and urinary anomalies were the most common associated organ anomalies. Throughout the study period, there was full agreement between US and postmortem findings of CNS anomalies in 96.9% (407/420) of TOPs.ConclusionIn this study of autopsy findings of CNS anomalies in intact fetuses terminated after prenatal US diagnosis, neural tube defects were most common. About half of the fetuses had isolated serious CNS anomalies, while the other half were CNS anomalies associated with structural and/or chromosomal anomalies. The prenatal US diagnoses were in good concordance with autopsy findings. In particular, due to challenges of diagnoses made early in pregnancy, it is necessary to continue the validation practice.

scholarly journals Spectrum of developmental anomalies of the central nervous system encountered in a tertiary care hospital

2018 ◽  
Vol 6 (8) ◽  
pp. 2732
Author(s):  
Subhasish Panda ◽  
Subhashree Dash ◽  
Savitri Bhagat ◽  
Braja Bihari Panda
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Congenital Anomalies ◽  
Care Hospital ◽  
Imaging Features ◽  
Imaging Findings ◽  
Developmental Anomalies ◽  
The Central Nervous System ◽  
One Year ◽  
Cns Anomalies

Background: Congenital Central Nervous System (CNS) anomalies have typical and characteristic imaging features. Imaging plays a pivotal role in their diagnosis. This study aims to determine the prevalence and spectrum of the various congenital anomalies of the CNS diagnosed at our institution, and to classify the imaging features according to an approved classification system.Methods: This cross-sectional study was conducted on infants and children below 12 years of age attending the Department of Radiodiagnosis of our Institution, for radiographic investigation of congenital anomalies in CNS through Computerised Tomography and/or Magnetic Resonance Imaging, over a period of one year. The spectrum of imaging features was analysed as per approved classification and corroboration with their clinical background. The prevalence of each type of congenital anomaly was also assessed.Results: A total number of 43 developmental anomalies of the central nervous system were encountered in 33 patients over a period of one year. The most common anomalies encountered were partial corpus callosal agenesis, heterotopic grey matter and Dandy Walker malformation. The total prevalence of CNS anomalies was 4.22%. The most common clinical symptoms in these patients were seizures followed by focal neurological deficit. The imaging findings of each anomaly are discussed.Conclusions: Developmental anomalies of CNS are encountered in 4.22% of patients in our Institution, with partial corpus callosum agenesis being the most frequent entity. Familiarity with imaging findings of these malformations is mandatory for every radiologist.

HLA-DRB1*1501 intensifies the impact of IL-6 promoter polymorphism on the susceptibility to multiple sclerosis in an Iranian population

2010 ◽  
Vol 16 (10) ◽  
pp. 1173-1177 ◽  
Author(s):  
M. Shahbazi ◽  
H. Ebadi ◽  
D. Fathi ◽  
D. Roshandel ◽  
M. Mohamadhosseni ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Promoter Polymorphism ◽  
Exact Test ◽  
Inflammatory Processes ◽  
The Central Nervous System ◽  
Pcr Method ◽  
Multiple Sclerosis Patients ◽  
The Impact

Background: The multifunctional cytokine interleukin-6 (IL-6) is involved in inflammatory processes in the central nervous system. It is well documented that amount of IL-6 is increased in serum, cerebrospinal fluid and central nervous system lesions of patients with multiple sclerosis. A single nucleotide polymorphism at position -174 in the IL-6 gene promotor appears to influence IL-6 expression. Recently, several researchers have focused on HLA-DRB alleles, specifically HLA-DRB1*1501, as a potential risk allele in the pathogenesis of multiple sclerosis. Objective: To investigate the possible influence of IL-6/-174 polymorphisms on susceptibility to multiple sclerosis and its integration with HLA-DRB1*1501. Genomic DNA was extracted from whole blood of 345 patients with multiple sclerosis and 426 control subjects. Method: The SSP-PCR method was used to determine genotypes and Fisher’s exact test was applied to determine differences between groups. HLA-DRB1*1501 was observed more frequently among multiple sclerosis patients compared with healthy subjects (45% and 34%, respectively; OR = 1.6, 95% CI = 1.2—2.2, p = 0.0018). At the IL-6/-174 position, the G allele had higher frequency among multiple sclerosis patients compared with controls (77% and 70%, respectively; OR = 1.4, 95% CI = 1.1—1.8, p = 0.0038). This difference was more significant among HLA-DRB1*1501-positive patients and controls (81% and 67%, respectively; OR = 1.9, 95% CI = 1.5—2.5, p < 0.0001). Results: Our results have shown that the G allele at the IL-6/-174 promoter polymorphism may be associated with development of multiple sclerosis in this population, and may be strengthened by HLA-DRB1*1501. Conclusions: We suggest more studies to confirm these results in other populations.

scholarly journals OP16.09: Termination of pregnancy for central nervous system (CNS) anomalies

2012 ◽  
Vol 40 (S1) ◽  
pp. 104-104
Author(s):  
W. Dendas ◽  
B. De Keersmaecker ◽  
P. Moerman ◽  
F. Claus ◽  
N. El Handouni ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Termination Of Pregnancy ◽  
Cns Anomalies

Audiological chronological findings in children with congenital anomalies of the central nervous system

2009 ◽  
Vol 73 (8) ◽  
pp. 1105-1110 ◽  
Author(s):  
Kae Kitagawa ◽  
Hiroaki Mitsuzawa ◽  
Tomoko Shintani ◽  
Mitsuru Go ◽  
Tetsuo Himi
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Congenital Anomalies ◽  
The Central Nervous System

scholarly journals Central Nervous System Birth Defects in Surgically Treated Infants in Sarajevo Region of Bosnia and Herzegovina

2007 ◽  
Vol 7 (4) ◽  
pp. 294-300 ◽  
Author(s):  
Selma Aličelebić ◽  
Alma Arslanagić ◽  
Zakira Mornjaković
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Spina Bifida ◽  
Bosnia And Herzegovina ◽  
Birth Defects ◽  
Arachnoid Cyst ◽  
Congenital Anomalies ◽  
Organ Systems ◽  
Pes Equinovarus ◽  
Clinical Records

Congenital anomalies of the central nervous system (CNS) are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4%) were female patients, while 47 (46,6%) were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%), congenital hydrocephalus (35 cases or 33,98%), arachnoid cyst (15 cases or 14,56%), Dandy-Walker syndrome (5 cases or 4,85%), dermoid cyst (4 cases or 3,88%), one of Arnold-Chiari syndrome (0,98%) and one of encefalocele (0,98%). According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%). The most frequent types were spina bifida (40,78%) both in females (22,33%) and in males (18,45%), hydrocephalus (33,98%) and arachnoid cyst (14,56%). The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%), equal in both sexes.

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