RESUMO
OBJECTIVES: To investigate short-term neonatal developmental outcomes in fetuses with an isolated wide or narrow cavum septi pellucidi (CSP) using new reference ranges. METHODS: A cross-sectional study on fetuses at 16 + 0 to 36 + 6 weeks of gestation between December 2020 and January 2022. CSP width reference ranges were constructed from low-risk pregnancies. Wide and narrow CSPs were defined as measurements above the 95th percentile and below the 5th percentile, respectively. For the primary outcome fetuses with normal neurosonograms were included. Neonatal developmental outcomes were assessed using the Survey of Well-being of Young Children (SWYC). RESULTS: A total of 352 fetuses were included in this study, of whom 138 were healthy and had uncomplicated neonatal outcomes. These fetuses constituted the control group and were used to construct the CSP width reference ranges. Of 185 fetuses in the neurosonography group, 9.7% had wide and 7.6% had narrow CSPs, of whom 33.3% and 22.2%, respectively, scored below the SWYC threshold for expected developmental milestones, a rate similar to that reported in the general population. CONCLUSIONS: The presence of a prenatally isolated wide or narrow CSP does not appear to increase the risk of neonatal neurodevelopmental delay.
Assuntos
Septo Pelúcido , Ultrassonografia Pré-Natal , Humanos , Feminino , Septo Pelúcido/embriologia , Septo Pelúcido/diagnóstico por imagem , Estudos Transversais , Ultrassonografia Pré-Natal/métodos , Gravidez , Valores de Referência , Recém-Nascido , Adulto , MasculinoRESUMO
PURPOSE: The aim of this study is to provide normative data about the appearances and dimensions of the cavum septi pellucidi and vergae (CSPV) on in utero MR (iuMR) imaging in second and third trimester foetuses. METHODS: Two hundred normal foetuses (from a low-risk pregnancy, with normal ante-natal USS findings and no intracranial abnormality of iuMR) had iuMR imaging between 18 and 37 gestational weeks (gw). The anatomical features on those studies were compared with published atlases of post-mortem foetal brains. The length, width and volume of the CSPV were measured in all foetuses. RESULTS: The anatomy of the CSPV and its relationship with the corpus callosum and the fornices on iuMR imaging was comparable with post-mortem data at all gestational ages studied. The length of the CSPV increased throughout pregnancy, whereas the width and volume of CSPV reached a maximum between 29 and 31 gw and then showed a reduction later in pregnancy. CONCLUSION: The iuMR imaging features of the CSPV and its close anatomical relations closely correspond to post-mortem data. The CSPV was patent in all cases but we have shown that closure commences in the midpart of the third trimester and advances in a posterior to anterior direction.
Assuntos
Ventrículos Cerebrais/diagnóstico por imagem , Ventrículos Cerebrais/embriologia , Imageamento por Ressonância Magnética/métodos , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/embriologia , Feminino , Humanos , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Valores de ReferênciaRESUMO
OBJECTIVE: To analyze a large retrospective cohort of fetuses in which the cavum septi pellucidi and vergae (CSPV) was not present or was not in its expected position on in-utero magnetic resonance imaging (iuMRI), in order to describe the possible causes of that finding and provide a diagnostic approach to assess such cases in clinical practice using iuMRI. METHODS: This was a retrospective study of fetuses that underwent iuMRI at a single institution, over an 18-year period (2000-2017 inclusive), in which the CSPV was not visualized or was abnormal. All iuMRI studies were reviewed and classified as CSPV being not present, disrupted (visualization of remnants of an otherwise normally placed CSPV) or malpositioned (CSPV was present, but not in its expected position). We describe the neuropathology present in each of the groups. RESULTS: Of the 270 fetuses that met the inclusion criteria, the CSPV was described as malpositioned in 150 (56%), disrupted in 71 (26%) and not present in 49 (18%). Malpositioned CSPV was present only in cases with agenesis of the corpus callosum and three specific patterns of malpositioning are described, depending on the location of the leaflets of the CSPV and fornix. Disrupted CSPV was present in fetuses with hydrocephalus or pathologies causing extensive brain parenchymal injury. Not present CSPV was found in cases with holoprosencephaly or when absence of the CSPV appeared to be an isolated finding. CONCLUSION: We have described a large cohort of fetuses with non-visualization of a normal CSPV on iuMRI and present a categorical classification system based on the CSPV being not present, disrupted or malpositioned. This approach should help in the diagnosis of the underlying cause of a CSPV abnormality. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Feto/diagnóstico por imagem , Imageamento por Ressonância Magnética/classificação , Malformações do Sistema Nervoso/diagnóstico por imagem , Diagnóstico Pré-Natal/classificação , Septo Pelúcido/diagnóstico por imagem , Feminino , Feto/anormalidades , Humanos , Imageamento por Ressonância Magnética/métodos , Malformações do Sistema Nervoso/classificação , Malformações do Sistema Nervoso/embriologia , Gravidez , Diagnóstico Pré-Natal/métodos , Valores de Referência , Estudos Retrospectivos , Septo Pelúcido/anormalidades , Septo Pelúcido/embriologiaRESUMO
OBJECTIVES: To assess the visualization rate and size of the frontal horns (FHs) and cavum septi pellucidi (CSP) in healthy fetuses throughout pregnancy. METHODS: After Institutional Review Board approval, 522 consecutive uncomplicated singleton pregnancies between 15 and 39 gestational weeks were enrolled in the study. Ultrasound measurements of the anterior horn width (AHW), center from the horn distance (CFHD), distance from the FHs to the CSP, and CSP width were retrospectively performed using axial transventricular or transcerebellar planes. Available maternal body mass indices were recorded. RESULTS: At least 1 FH was seen in 78% of the cases. The mean AHW decreased over the second trimester and plateaued in the third trimester. The CFHD plateaued in the second trimester and increased in the third trimester. Downside FHs were generally larger than upside FHs. More FHs were measured in transventricular (69%) than transcerebellar (31%) planes. Frontal horns were seen with high, low, and no confidence in 57%, 21%, and 22% of cases, respectively. No-confidence rates were 17% in the second trimester and 42% in the third trimester. The CSP was not visualized in 4% of cases; 15 of 19 cases of a nonvisualized CSP were scanned between 18 and 37 weeks. Mean body mass indices ± SDs were 27.6 ± 6.7 kg/m2 for the patients in cases of a visualized CSP and 32.4 ± 9.1 kg/m2 for the patients in cases of a nonvisualized CSP. CONCLUSIONS: Normative data for the fetal FH and CSP width were established. Frontal horns are more frequently seen on transventricular views and are difficult to confidently assess in the late third trimester. This study challenges previously reported data that the CSP is seen in 100% of cases from 18 to 37 weeks.
Assuntos
Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Septo Pelúcido/anatomia & histologia , Septo Pelúcido/embriologia , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Humanos , Gravidez , Valores de Referência , Estudos RetrospectivosRESUMO
AIM: To explore the effectiveness of cavum septi pellucidi (CSP) width to anteroposterior cerebellar diameter (APCD) ratio as a diagnostic adjunct for prenatal diagnosis of trisomy 18. METHODS: Images of normal fetal brain within 15 and 35 weeks were stored in our center from 2016 to 2017. Images of aneuploid fetuses were retrospectively collected from 2004 to 2017. The transverse cerebellar diameter, APCD and CSP width were measured. CSP/APCD and APCD/transverse cerebellar diameter ratios were calculated and compared between euploid and aneuploid fetuses. RESULTS: One thousand and forty one fetuses were analyzed, including 817 euploid fetuses and 224 aneuploid fetuses (trisomy 21 117 cases, trisomy 18 82 cases, trisomy 13 9 cases, sex-linked 16 cases). No correlation had been found between both ratios and gestational weeks (P > 0.05). In aneuploid groups, means of ratios were both significantly different just between trisomy 18 group and euploid group (P < 0.05). The best area under the curve was shown by the CSP/APCD ratio. The cutoff value of CSP/APCD was 0.46 (sensitivity 87.0%, specificity 85.0%). CONCLUSION: A wide CSP or cerebellar hypoplasia warrants a more detailed ultrasound screening and genetic counseling. A larger CSP/APCD ratio alerts us to trisomy 18 syndrome, especially in cases with subtle anomalies.
Assuntos
Cerebelo/embriologia , Feto/diagnóstico por imagem , Indicadores Básicos de Saúde , Septo Pelúcido/embriologia , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto , Encéfalo/embriologia , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Deficiências do Desenvolvimento/diagnóstico por imagem , Feminino , Feto/patologia , Idade Gestacional , Humanos , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/embriologia , Gravidez , Valores de Referência , Estudos Retrospectivos , Sensibilidade e Especificidade , Síndrome da Trissomía do Cromossomo 18/embriologiaRESUMO
PURPOSE: The purpose of this study was to measure the maximal width, middle width, and length of the cavum septi pellucidi (CSP) in normal fetuses, and compare these measurements obtained in the transthalamic (TT) plane with those obtained in the transventricular (TV) plane. METHOD: A prospective study was conducted of normal singleton fetuses, ranging from 18 to 36 weeks in gestational age. In each case, a three-dimensional volume of the fetal head was obtained in the TT plane for further offline measurements, then the maximal width, middle width, and length of the CSP in both the TT and TV planes were measured. Intraobserver and interobserver reproducibility was assessed, and curve estimation was used to assess the possible relationship between these measurements of CSP and gestational age (GA). RESULTS: A total of 267 normal fetuses were studied. The CSP width and length in TT and TV planes as a function of GA were analyzed using a quadratic regression model. Intraobserver and interobserver agreement of the CSP measurements was excellent overall (ICCs >0.9), with intraobserver and interobserver differences of less than 4%. CONCLUSION: Measurements of CSP in the TT and TV planes are equally reproducible.
Assuntos
Imageamento Tridimensional/métodos , Septo Pelúcido/anatomia & histologia , Septo Pelúcido/embriologia , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Idade Gestacional , Cabeça/anatomia & histologia , Cabeça/embriologia , Humanos , Gravidez , Estudos Prospectivos , Valores de Referência , Reprodutibilidade dos Testes , Adulto JovemAssuntos
Encéfalo/diagnóstico por imagem , Encéfalo/embriologia , Desenvolvimento Fetal , Gravidez em Diabéticas/diagnóstico por imagem , Encéfalo/anormalidades , Estudos de Casos e Controles , Cerebelo/diagnóstico por imagem , Cerebelo/embriologia , Cisterna Magna/diagnóstico por imagem , Cisterna Magna/embriologia , Diabetes Gestacional/diagnóstico por imagem , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Ventrículos Laterais/diagnóstico por imagem , Ventrículos Laterais/embriologia , Masculino , Tamanho do Órgão , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/embriologia , Ultrassonografia Pré-NatalRESUMO
OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies. Follow-up outcome data regarding further imaging, karyotype, diagnosis of brain anomaly, and associated congenital abnormalities were obtained. RESULTS: Fifteen patients met the inclusion criteria. Nine patients were identified as having a prominent cavum septi pellucidi, and 6 were identified as having a prominent cavum vergae. The mean gestational age ± SD was 22.7 ± 5.9 weeks. Eleven patients made it to delivery. Of the 15 patients, 4 were thought to have trisomy 21, and 13 had congenital anomalies. Outcomes included 10 major adverse outcomes, 4 cases with normal development or minor abnormalities, and 1 lost to follow-up. An isolated dilated cavum on prenatal sonography was seen in 5 cases: 1 with lissencephaly on a neonatal examination, 3 premature deliveries (1 demise, 1 hospice, and 1 normal), and 1 unknown. CONCLUSIONS: Our cohort had many associated clinical anomalies: 3 confirmed trisomy 21 and 1 probable trisomy 21, 2 genetic disorders, and 10 major adverse outcomes, 5 of which were grave. Although we studied a small cohort, we conclude that an enlarged cavum septi pellucidi or cavum vergae warrants consideration of genetic counseling, which may include noninvasive prenatal testing (cell-free DNA), amniocentesis with microarray testing, or both.
Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Anormalidades Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Encéfalo/embriologia , Anormalidades Congênitas/patologia , Feminino , Seguimentos , Humanos , Tamanho do Órgão , Gravidez , Estudos Retrospectivos , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/embriologia , Septo Pelúcido/patologia , Adulto JovemRESUMO
OBJECTIVES: We aimed to measure the thickness and volume of the cavum vergae by sonography in fetuses at gestational ages of 25 to 41 weeks to determine the relationship of cavum vergae thickness and volume with gestational age and biparietal diameter and to estimate the rate of cavum vergae closure in relation to gestational age. METHODS: A total of 336 patients in their third trimester of pregnancy had transabdominal sonography. The fetal cavum vergae was scanned in the coronal and axial planes. The thickness of the anteroposterior diameter of the cavum vergae and the largest inner surface were measured after marking the internal borders of the structure, and then longitudinal and vertical sizes were obtained. The values obtained were multiplied by each other and then by 0.52 to obtain the cavum vergae volume. RESULTS: In 55 of 322 cases, the cavum vergae volume and thickness could not be calculated because the cavum vergae was closed. In the remaining cases, the cavum vergae volume and thickness and biparietal diameter were measured. Although the degree of correlation between cavum vergae thickness and volume increased with increasing gestational age, there was no correlation between cavum vergae thickness and volume at 37 to 41 weeks. There was a positive but weak statistically significant correlation between biparietal diameter and cavum vergae volume (P= .05), but there was no statistically significant correlation between biparietal diameter and cavum vergae thickness. The cavum vergae closure rate increased significantly as gestational age increased (P < .001). CONCLUSIONS: Cavum vergae closure increases as gestational age increases. However, we did not find any relationships between cavum vergae thickness and volume, gestational age, and biparietal diameter.
Assuntos
Envelhecimento/fisiologia , Idade Gestacional , Imageamento Tridimensional/métodos , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/embriologia , Ultrassonografia Pré-Natal/métodos , Abdome/diagnóstico por imagem , Feminino , Humanos , Interpretação de Imagem Assistida por Computador/métodos , Masculino , Variações Dependentes do Observador , Tamanho do Órgão , Gravidez , Terceiro Trimestre da Gravidez , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
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.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Septo Pelúcido/anormalidades , Septo Pelúcido/embriologia , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal , Septo Pelúcido/diagnóstico por imagem , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: To describe and assess the presence of a new indirect sign of partial agenesis of the corpus callosum (pACC): an abnormally shaped cavum septi pellucidi (CSP). METHODS: We analyzed retrospectively images from all 71 cases of pACC seen at two referral centers between September 2006 and April 2014. Abnormally shaped CSP was diagnosed when its lateral dimension was greater than its anteroposterior dimension in the axial transthalamic plane, and the incidence of this sign was assessed. We also examined the following variables: gestational age at referral, indication for referral, which (if any) of the four corpus callosal segments were abnormal, presence of other, previously established, indirect signs of callosal agenesis (ACC) and presence of additional cerebral or extracerebral anomalies. RESULTS: In 56 of the 71 (79%) cases, the CSP was measurable; it was abnormally shaped in 19 (34%) of these cases, 15 (79%) of which had no other indirect signs of pACC. Of 23 cases with isolated pACC and no other indirect signs, 12 (52%) had an abnormally shaped CSP. CONCLUSIONS: In a significant proportion of cases of pACC detected prenatally, the shape of the CSP is abnormal. This should be considered an additional indirect sign of pACC, and is frequently the only clue to the diagnosis. When observing this sign in a screening context, pACC should be considered, and an attempt to visualize the corpus callosum directly in the midsagittal plane is suggested.
Assuntos
Agenesia do Corpo Caloso/diagnóstico , Corpo Caloso/patologia , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Adulto , Agenesia do Corpo Caloso/embriologia , Agenesia do Corpo Caloso/epidemiologia , Corpo Caloso/embriologia , Feminino , França/epidemiologia , Idade Gestacional , Humanos , Israel/epidemiologia , Gravidez , Estudos Retrospectivos , Septo Pelúcido/anormalidades , Septo Pelúcido/embriologia , Septo Pelúcido/patologiaRESUMO
OBJECTIVE: To describe the anatomical structures that form the anterior (AC) and posterior (PC) complexes of the fetal brain and to categorize their anomalies in fetuses with cerebral abnormalities. METHODS: We analyzed retrospectively volume datasets from 100 normal fetuses between 20 and 30 weeks' gestation. On the axial transventricular plane, our analysis of the AC included the interhemispheric fissure (IHF), the callosal sulcus (CS), the genu of the corpus callosum (CC), the cavum septi pellucidi (CSP) and the anterior horns (AH) of the lateral ventricles. The PC included the splenium of the CC, the medial wall of the lateral ventricles, the CS and the parieto-occipital fissure (POF). We then categorized AC/PC findings in 32 fetuses with agenesis of the septi pellucidi, schizencephaly, callosal dysgenesis, cortical malformation and hypoxic-ischemic brain injury. RESULTS: The structures forming the AC and PC were visible in 100% and 92%, respectively, of normal cases. In the AC, the CSP was square-shaped in 73% of cases and it was triangular in 27%; the AH was comma-shaped in 92% of cases and triangular in the remainder. In the PC, the splenium of the CC interrupted and bridged the midline and was delimited posteriorly by the CS and the IHF. The POF was visible posteriorly. We categorized AC and PC abnormalities according to the main deviation from normality in their anatomical structures. The AC was abnormal in 30/32 cases and the PC was abnormal in 16/32 cases. In the two cases with normal AC, the PC was abnormal. CONCLUSION: Normal appearance of AC and PC seems to be a strong indicator of fetal central nervous system normality. Morphological abnormalities in both complexes are robust markers of midline defects, but not exclusively so. The majority of fetuses with cortical malformations showed a defect in the AC.
Assuntos
Agenesia do Corpo Caloso/diagnóstico por imagem , Ecoencefalografia , Doenças Fetais/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Septo Pelúcido/patologia , Ultrassonografia Pré-Natal , Agenesia do Corpo Caloso/embriologia , Agenesia do Corpo Caloso/patologia , Ecoencefalografia/métodos , Feminino , Doenças Fetais/patologia , Idade Gestacional , Humanos , Malformações do Sistema Nervoso/embriologia , Malformações do Sistema Nervoso/patologia , Gravidez , Estudos Retrospectivos , Septo Pelúcido/anormalidades , Septo Pelúcido/embriologiaRESUMO
BACKGROUND: To characterize the cavum septum pellucidum et vergae (CSPV) in normal fetuses in the second to third trimester. METHODS: The cavum septum pellucidum (CSP) and CSPV were investigated in 322 uncomplicated singleton pregnancies from 25 to 39 weeks' gestation. Visualization rate, width, and morphology of both CSP and cavum vergae (CV) were assessed by ultrasound and MRI. RESULTS: The CSP and CSPV visualization rates were 100% and 7.8% (25/322), respectively. The mean widths were 6.3 ± 1.2 mm (3.4-10 mm) and 6.7 ± 1.0 mm (5.1-9 mm), respectively, with no significant correlation between width and gestational age (r = -0.108, p > 0.05 and r = -0.182, p > 0.05, respectively). In CSPV fetuses, the CV to CSP ratio was 1.004 ± 0.018 (0.967-1.033). All CSPVs were rectangular in the transverse plane and extended posteriorly beyond the midpoint of the brain. CONCLUSIONS: Common features of CSPVs include (1) a rectangular morphology, (2) communication between the two cavities, (3) a CV width within the normal range for CSP, and (4) a CV-CSP ratio of 1. These findings may help distinguish normal from abnormal CSPV.
Assuntos
Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Septo Pelúcido/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adolescente , Feminino , Seguimentos , Humanos , Gravidez , Valores de Referência , Septo Pelúcido/embriologia , Adulto JovemRESUMO
OBJECTIVE: To examine whether the cavum septi pellucidi (CSP) is larger in second- and third-trimester fetuses with chromosomal abnormalities than in euploid fetuses. METHODS: This was a retrospective study utilizing stored two-dimensional images of second- and third-trimester fetuses between 18 and 40 weeks' gestation from three centers in Germany. The width of the CSP was measured by placing the calipers on the inner portion of its lateral borders. Two operators, both of whom were blinded to the fetal karyotype and to the measurements obtained by the other, measured the CSP width. The normal range in euploid fetuses was computed based on the biparietal diameter (BPD) by applying univariate regression analysis. The CSP width in euploid and aneuploid fetuses was transformed into Z-scores and compared using Student's t-test. Univariate regression analysis was used to determine the dependency of Z-score on head biometry. RESULTS: The study population consisted of 406 singleton pregnancies, 267 with euploid fetuses, 81 with trisomy 21, 50 with trisomy 18 and eight with trisomy 13. In the euploid group, the mean CSP width was 4.5 (range, 1.8-7.4) mm. Regression analysis showed a significant dependency of CSP width on BPD (CSP width = 0.658 + (0.064 × BPD), r = 0.781, P < 0.0001; both parameters in mm). The mean CSP width increased from 3.2 to 7.1 mm for BPD values of 40 to 100 mm, respectively. In the groups of fetuses with trisomy 21, 18 and 13, mean CSP width was 5.7 (range, 2.8-10.5), 7.9 (range, 3.5-12.8) and 5.8 (range, 4.0-9.0) mm, respectively. In 42.0% of the fetuses with trisomy 21, CSP width was above the 95(th) centile. In trisomy 18 and 13, CSP width was above the 95(th) centile in 92.0% and 37.5% of cases, respectively. CONCLUSION: A large CSP width should prompt a detailed ultrasound examination to further assess the risk for chromosomal abnormalities.
Assuntos
Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18 , Síndrome de Down/diagnóstico por imagem , Septo Pelúcido/ultraestrutura , Trissomia , Biometria , Feminino , Idade Gestacional , Cabeça/embriologia , Humanos , Idade Materna , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Estudos Retrospectivos , Septo Pelúcido/embriologia , Ultrassonografia Pré-NatalRESUMO
Septal agenesis is a rare cerebral developmental anomaly characterized by partial or complete absence of the septum pellucidum (ASP). Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, septooptic dysplasia (SOD), schizencephaly or agenesis of the corpus callosum. Current imaging technologies do not enable differentiation in utero between isolated ASP and SOD. This is due to the fact that optic nerve hypoplasia and endocrine anomalies are never ruled out completely. We report a case of prenatal diagnosis of isolated ASP based on 2D and 3D ultrasound and fetal MRI. Postnatal MRI confirmed prenatal findings and the boy is currently doing well at 18 months of age.
Assuntos
Diagnóstico Pré-Natal , Displasia Septo-Óptica/diagnóstico , Septo Pelúcido/embriologia , Adulto , Diagnóstico Diferencial , Ecoencefalografia , Feminino , Humanos , Imageamento Tridimensional , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Gravidez , Segundo Trimestre da Gravidez , Displasia Septo-Óptica/diagnóstico por imagem , Displasia Septo-Óptica/embriologia , Displasia Septo-Óptica/patologia , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/patologia , Nascimento a Termo , Vias Visuais/diagnóstico por imagem , Vias Visuais/embriologia , Vias Visuais/patologia , Adulto JovemRESUMO
There are three telencephalic commissures which are paleocortical (the anterior commissure), archicortical (the hippocampal commissure), and neocortical. In non-placental mammals, the neocortical commissural fibers cross the midline together with the anterior and possibly the hippocampal commissure, across the lamina reuniens (joining plate) in the upper part of the lamina terminalis. In placental mammals, a phylogenetically new feature emerged, which is the corpus callosum: it results from an interhemispheric fusion line with specialized groups of mildline glial cells channeling the commissural axons through the interhemispheric meninges toward the contralateral hemispheres. This concerns the frontal lobe mainly however: commissural fibers from the temporo-occipital neocortex still use the anterior commissure to cross, and the posterior occipito-parietal fibers use the hippocampal commissure, forming the splenium in the process. The anterior callosum and the splenium fuse secondarily to form the complete commissural plate. Given the complexity of the processes involved, commissural ageneses are many and usually associated with other diverse defects. They may be due to a failure of the white matter to develop or to the commissural neurons to form or to migrate, to a global failure of the midline crossing processes or to a selective failure of commissuration affecting specific commissural sites (anterior or hippocampal commissures, anterior callosum), or specific sets of commissural axons (paleocortical, hippocampal, neocortical commissural axons). Severe hemispheric dysplasia may prevent the axons from reaching the midline on one or both sides. Besides the intrinsically neural defects, midline meningeal factors may prevent the commissuration as well (interhemispheric cysts or lipoma). As a consequence, commissural agenesis is a malformative feature, not a malformation by itself. Good knowledge of the modern embryological data may allow for a good understanding of a specific pattern in a given individual patient, paving the way for better clinical correlation and genetic counseling.
Assuntos
Agenesia do Corpo Caloso , Corpo Caloso/patologia , Prosencéfalo/anormalidades , Prosencéfalo/patologia , Septo Pelúcido/anormalidades , Septo Pelúcido/patologia , Corpo Caloso/embriologia , Humanos , Modelos Anatômicos , Prosencéfalo/embriologia , Septo Pelúcido/embriologiaRESUMO
Fetal MRI is a specific imaging modality, always performed after a reference ultrasound examination. The decision to perform an MRI-scan must take into account the anxiety constantly generated by the need for this unusual examination during pregnancy. To date, no side-effect associated with 1.5 tesla magnets has been described. Compared to ultrasonography, fetal brain MRI provides better contrast between grey and white matter, as well as better delineation of the brainstem (pontic curvature) and the cerebellum (lobules and fissures). However, it often remains difficult to inform parents about prognosis. Thereby, it is of utmost importance to be familiar with the definite criteria associated with a poor neurological prognosis such as lack of pontic curvature or as diffuse or bilateral cortical malformations. This has to be considered within the framework of French regulations which allow pregnancy termination with no time limit. The optimal timing to perform a fetal MRI-scan depends on the context. The period between 27 and 30 weeks of gestation is a good balance between gestational age and gyration or sulcation development. The main ultrasonographic findings requiring MRI are ventriculomegalies and posterior fossa abnormalities. MRI exploration can sometimes be performed despite a normal ultrasonography in case of genetic disorders such as tuberous sclerosis and lissencephalies. In addition to its diagnostic value towards decision to terminate pregnancy, fetal MRI can be used as "in vivo autopsy", in case of expected technical difficulties or refusal of post-abortion examinations by relatives. Technical advances (real time and specific sequences like diffusion tensor and spectroscopy) and prospective clinical studies will probably improve the efficiency of this method to assess neurological prognosis.
Assuntos
Encéfalo/embriologia , Feto/anatomia & histologia , Imageamento por Ressonância Magnética/métodos , Encéfalo/anormalidades , Encéfalo/anatomia & histologia , Encéfalo/patologia , Ventrículos Cerebrais/anatomia & histologia , Ventrículos Cerebrais/embriologia , Corpo Caloso/anatomia & histologia , Corpo Caloso/embriologia , Feminino , Idade Gestacional , Humanos , Bainha de Mielina , Gravidez , Septo Pelúcido/anormalidades , Septo Pelúcido/embriologia , Septo Pelúcido/patologiaRESUMO
Abnormal ventral induction may result in disorders of formation, cleavage, and midline development of prosencephalic structures. Holoprosencephaly is a developmental field defect of impaired cleavage of prosencephalon. The most widely accepted classification of holoprosencephaly recognizes three major varieties: the alobar, semilobar and lobar types, according to the severity of the malformation. The brain malformations, characterized by the fusion of the cerebral hemisphere along the midline are commonly associated with facial anomalies. Corpus callosum agenesis and septo-optic dysplasia are disorders of prosencephalic midline development, and usually have less severe presentations but still, affected subjects may suffer from neurodevelopmental retardation, and/or endocrinologic and visual disorders. In this article we report an up-to-date of pathogenesis, prenatal sonographic findings, differential diagnosis and prognosis of the aforementioned anomalies.
Assuntos
Prosencéfalo/anormalidades , Prosencéfalo/embriologia , Síndrome Acrocalosal/embriologia , Encéfalo/anormalidades , Encéfalo/embriologia , Diagnóstico Diferencial , Feminino , Idade Gestacional , Holoprosencefalia/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Gravidez , Prognóstico , Prosencéfalo/diagnóstico por imagem , Septo Pelúcido/anormalidades , Septo Pelúcido/embriologia , Ultrassonografia Doppler em Cores , Ultrassonografia Pré-NatalRESUMO
The thin, vertically placed partition consisting of two laminae separated by a narrow chink constitutes the cavity of the septum pellucidum, known from the time of Sylvius. Traumatic lesions in boxers, rare congenital expanding cysts causing hydrocephalus, and a number of septo-optic dysplasias give clinical significance to the septum and its related cavum.
Assuntos
Boxe/história , Encefalopatias/história , Cistos/história , Septo Pelúcido/anatomia & histologia , Septo Pelúcido/lesões , Ferimentos não Penetrantes/história , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Boxe/lesões , Cistos/diagnóstico , Cistos/etiologia , História do Século XVII , História do Século XVIII , História do Século XIX , Humanos , Esquizofrenia/etiologia , Septo Pelúcido/embriologia , Ferimentos não Penetrantes/complicaçõesRESUMO
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. After a follow-up sonogram at 35 weeks, agenesis of the corpus callosum was detected. A retrospective evaluation of the prevalence of forniceal columns was then performed in 100 consecutive sonograms of pregnancies between 18 and 24 weeks' gestation. A prospective study was then performed in 20 patients to determine the prevalence of visualization of the columns of the fornix. RESULTS: In 86 of 100 patients, the columns of the fornix were retrospectively identified as discrete and separate structures from the CSP. When additional views were obtained prospectively in the forebrain, the fornix could be identified in all 20 patients. CONCLUSIONS: The columns of the fornix may simulate the appearance of the CSP on second- and third-trimester sonograms. The distinction between these structures can be made because the columns of the fornix will show a linear reflection (3 lines) at their interface, whereas the CSP will appear as a fluid-filled triangular or rectangular fluid-filled space without a central line.