RESUMO
OBJECTIVE: To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis. METHODS: This was a retrospective multicenter study of fetuses diagnosed between January 2007 and February 2022 with a mild tubulinopathy (without lissencephaly or microlissencephaly). We collected and reviewed brain imaging and genetic data, and defined major criteria as findings observed in ≥ 70% of the patients and minor criteria as those observed in ≥ 50% but < 70% of the patients. RESULTS: Our cohort included 34 fetuses. The mean gestational age at ultrasound screening, when suspicion of a central nervous system anomaly was first raised, was 24.2 (range, 17-33) weeks. Callosal anomalies (n = 19 (56%)) and abnormal ventricles (n = 18 (53%)) were the main reasons for referral. The mean gestational age at neurosonography was 28.3 (range, 23-34) weeks and that at MRI was 30.2 (range, 24-35) weeks. Major ultrasound criteria were midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation. Minor ultrasound criteria were distortion of the cavum septi pellucidi, abnormal corpus callosum, absent or asymmetric olfactory sulci, ventriculomegaly and basal ganglia dysmorphism. Major MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation (generally unilateral) and/or distortion, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation (mainly dysgyria). Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons ≤ 5th centile and brainstem asymmetry. A mutation was found in TUBB3 (44.1% of cases), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.6%). The mutation was inherited from a parent in 18/34 cases. The pregnancy was terminated in 23/34 cases. CONCLUSIONS: Prenatal diagnosis of mild forms of tubulinopathy is possible but challenging. We have defined, in this large series of fetuses, major and minor criteria that can help identify this entity in utero. Most findings can be visualized on ultrasound. This evaluation is also important for prenatal counseling. Once a prenatal diagnosis of mild tubulinopathy is suspected, the family members should be referred for exome sequencing and MRI. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Malformações do Sistema Nervoso , Ultrassonografia Pré-Natal , Gravidez , Feminino , Humanos , Lactente , Ultrassonografia Pré-Natal/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/anormalidades , Diagnóstico Pré-Natal/métodos , Feto/diagnóstico por imagem , Feto/anormalidades , Idade Gestacional , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodosRESUMO
OBJECTIVE: Data are lacking on the impact on pregnancy outcome of the position of the abnormal fetus in a discordant twin pregnancy undergoing selective termination (ST). Tissue maceration post ST of the presenting twin may lead to early rupture of membranes, amnionitis and preterm labor. The aim of this study was to evaluate pregnancy complications and outcome following ST of the presenting vs non-presenting twin. METHODS: This was a multicenter retrospective cohort study of dichorionic diamniotic twin pregnancies that underwent ST due to a discordant fetal anomaly (structural or genetic) between 2007 and 2021. The study population was divided into two groups according to the position of the reduced twin (presenting or non-presenting) and outcomes were studied accordingly. The primary outcome was a composite of early complications following ST, including infection, preterm prelabor rupture of membranes and pregnancy loss. RESULTS: A total of 190 dichorionic twin pregnancies were included, of which 73 underwent ST of the presenting twin and 117 of the non-presenting twin. The groups did not differ in either baseline demographic characteristics or mean gestational age at the time of the procedure. ST of the presenting twin resulted in a significantly higher rate of early complications compared with the non-presenting twin (19.2% vs 7.7%; P = 0.018). Moreover, the rates of preterm delivery (75.3% vs 37.6%; P < 0.001) and neonatal intensive care unit admission (45.3% vs 17.1%; P < 0.001) were higher, and birth weight was lower (P < 0.001), in those pregnancies in which the presenting twin was reduced. CONCLUSIONS: ST of the presenting twin resulted in a higher rate of adverse pregnancy outcome compared with that of the non-presenting twin. These findings should be acknowledged during patient counseling and, if legislation permits, taken into consideration when planning ST. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Complicações na Gravidez , Nascimento Prematuro , Recém-Nascido , Feminino , Gravidez , Humanos , Estudos Retrospectivos , Resultado da Gravidez/epidemiologia , Gêmeos , Gravidez de Gêmeos , Nascimento Prematuro/etiologia , Nascimento Prematuro/epidemiologia , Idade GestacionalRESUMO
OBJECTIVES: To describe the prenatal neuroimaging spectrum of rhombencephalosynapsis (RES) and criteria for its classification according to the severity of vermian anomaly. METHODS: In this multicenter retrospective study of fetuses with RES between 2002 and 2020, the medical records and brain ultrasound and magnetic resonance images were evaluated comprehensively to determine the severity of the vermian anomaly and the presence of associated brain findings. RES was classified, according to the pattern of vermian agenesis and the extent of the fusion of the hemispheres, as complete RES (complete absence of the vermis) or partial RES (further classified according to the part of the vermis that was missing and, consequently, the region of hemispheric fusion, as anterior, posterior, severe or mixed RES). Findings were compared between cases with complete and those with partial RES. RESULTS: Included in the study were 62 fetuses with a gestational age ranging between 12 and 37 weeks. Most had complete absence of the vermis (complete RES, 77.4% of cases), a 'round-shaped' cerebellum on axial views (72.6%) and a transverse cerebellar diameter (TCD) < 3rd centile (87.1%). Among the 22.6% of cases with partial RES, 6.5% were classified as severe partial, 6.5% as partial anterior, 8.1% as partial mixed and 1.6% as partial posterior. Half of these cases presented with normal or nearly normal cerebellar morphology and 28.5% had a TCD within the normal limits. Infratentorially, the fourth ventricle was abnormal in 88.7% of cases overall, and anomalies of the midbrain and pons were frequent (93.5% and 77.4%, respectively). Ventriculomegaly was observed in 80.6% of all cases, being more severe in cases with complete RES than in those with partial RES, with high rates of parenchymal and septal disruption. CONCLUSIONS: This study provides prenatal neuroimaging criteria for the diagnosis and classification of RES, and identification of related features, using ultrasound and magnetic resonance imaging. According to our findings, a diagnosis of RES should be considered in fetuses with a small TCD (severe cerebellar hypoplasia) and/or a round-shaped cerebellum on axial views, during the second or third trimester, especially when associated with ventriculomegaly. Partial RES is more common than previously thought, but presents an extreme diagnostic challenge, especially in cases with normal or nearly-normal cerebellar morphobiometric features. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Vermis Cerebelar/anormalidades , Cerebelo/anormalidades , Anormalidades do Olho/diagnóstico por imagem , Doenças Renais Císticas/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Neuroimagem , Diagnóstico Pré-Natal/métodos , Retina/anormalidades , Rombencéfalo/anormalidades , Anormalidades Múltiplas/embriologia , Adulto , Vermis Cerebelar/diagnóstico por imagem , Vermis Cerebelar/embriologia , Cerebelo/diagnóstico por imagem , Cerebelo/embriologia , Anormalidades do Olho/embriologia , Feminino , Idade Gestacional , Humanos , Doenças Renais Císticas/embriologia , Imageamento por Ressonância Magnética , Imagem Multimodal , Malformações do Sistema Nervoso/embriologia , Gravidez , Retina/diagnóstico por imagem , Retina/embriologia , Estudos Retrospectivos , Rombencéfalo/diagnóstico por imagem , Rombencéfalo/embriologia , Índice de Gravidade de Doença , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain (MB-HB) malformations relies primarily on abnormal size and shape of the cerebellum and retrocerebellar space, particularly 'open fourth ventricle' (4V), the most common indicator of MB-HB malformations. The aim of this study was to present the fourth ventricle index (4VI), and to evaluate its role as a marker for severe vermian dysgenesis/agenesis in cases without open 4V. METHODS: This was a prospective cross-sectional study of patients with singleton low-risk pregnancy at 14 + 1 to 36 + 6 gestational weeks presenting between May 2016 and November 2017 for routine ultrasound examination. Axial images of the fetal 4V were obtained and the 4VI was calculated as the ratio between the laterolateral and the anteroposterior diameters. Reference ranges were constructed and retrospectively collected values from 44 fetuses with confirmed anomalies involving severe vermian dysgenesis/agenesis (Joubert syndrome and related disorders, rhombencephalosynapsis, cobblestone malformations and cerebellar hypoplasia) but without open 4V were compared with the normal values. RESULTS: In total, 384 healthy fetuses were enrolled into the study, from which reference ranges were produced, and 44 cases were collected retrospectively. The 4VI in the normal fetuses was always > 1. In affected fetuses, it was always below mean -2 SD and < 1. CONCLUSIONS: The 4VI is a sonographic marker for severe fetal vermian dysgenesis/agenesis in the absence of an open 4V. It may be incorporated easily into the routine brain scan; 4VI < 1 indicates a need for dedicated fetal neuroimaging for diagnosis and prenatal counseling. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
Assuntos
Quarto Ventrículo/diagnóstico por imagem , Mesencéfalo/diagnóstico por imagem , Diagnóstico Pré-Natal/normas , Rombencéfalo/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/patologia , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Estudos Transversais , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/patologia , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/patologia , Feminino , Feto , Quarto Ventrículo/anatomia & histologia , Quarto Ventrículo/patologia , Idade Gestacional , Humanos , Lactente , Doenças Renais Císticas/diagnóstico por imagem , Doenças Renais Císticas/patologia , Mesencéfalo/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/epidemiologia , Malformações do Sistema Nervoso/patologia , Gravidez , Estudos Prospectivos , Retina/anormalidades , Retina/diagnóstico por imagem , Retina/patologia , Estudos Retrospectivos , Rombencéfalo/anormalidades , Ultrassonografia Pré-Natal/métodosRESUMO
OBJECTIVE: To evaluate the prediction of microcephaly at birth (micB) using established and two new reference ranges for fetal head circumference (HC) and to assess whether integrating additional parameters can improve prediction. METHODS: Microcephaly in utero was defined as a fetal HC 3SD below the mean for gestational age according to Jeanty et al.'s reference range. The records of cases with fetal microcephaly (Fmic) were evaluated for medical history, imaging findings, biometry and postnatal examination/autopsy findings. Microcephaly was confirmed at birth (micB) by an occipitofrontal circumference (OFC) or a brain weight at autopsy 2SD below the mean for gestational age. The new INTERGROWTH-21(st) Project and a recent Israeli reference for fetal growth were applied for evaluation of the Fmic positive predictive value (PPV) for diagnosis of micB cases. Optimal HC cut-offs were determined for each of the new references with the aim of detecting all micB cases whilst minimizing the number of false positives found to have a normal HC at birth. We also assessed the difference between the Z-scores of the prenatal HC and the corresponding OFC at birth, the frequency of small-for-gestational age (SGA), decreased HC/abdominal circumference (AC) and HC/femur length (FL) ratios, the prevalence of associated malformations and family history. RESULTS: Forty-two fetuses were diagnosed as having Fmic according to the Jeanty reference, but micB was confirmed in only 24 (PPV, 57.1%). The optimal INTERGROWTH and Israeli reference HC cut-offs for micB diagnosis were mean - 3SD and mean - 2.3SD, resulting in a statistically non-significant improvement in PPV to 61.5% and 66.7%, respectively. The presence of a family history of microcephaly, SGA, associated malformations and application of stricter HC cut-offs resulted in a higher PPV of micB, although not statistically significant and with a concurrent increase in the number of false-negative results. The deviation of the HC from the mean, by all references, was significantly larger compared with the actual deviation of the OFC at birth, with mean differences between the corresponding Z-scores of -1.15, -1.95 and -0.74 for the Jeanty, INTERGROWTH and Israeli references, respectively. CONCLUSIONS: The evaluated reference ranges all result in considerable over-diagnosis of fetal microcephaly. The use of the two new HC reference ranges did not significantly improve micB prediction compared with that of Jeanty et al., whilst use of additional characteristics and stricter HC cut-offs could improve the PPV with an increase in false negatives. The postnatal OFC deviates significantly less from the mean compared with the prenatal HC, and we propose that adjustment for this would enable better prediction of the actual OFC deviation at birth. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Assuntos
Cefalometria/métodos , Microcefalia/diagnóstico , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Feminino , Idade Gestacional , Humanos , Uso Excessivo dos Serviços de Saúde/estatística & dados numéricos , Gravidez , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: To construct a reference range for a new vertical measurement of the fetal head and to assess whether its combination with fetal head circumference (HC) can prevent the misdiagnosis of microcephaly in fetuses with an acrocephalic-like head deformation. METHODS: A new vertical cranial biometric measurement was defined: the foramen magnum-to-cranium distance (FCD), measured between the foramen magnum and the upper inner cranial border along the posterior wall of the brainstem. The measurement was performed in a precise mid-sagittal plane using a three-dimensional multiplanar display of a sagittally acquired sonographic volume of the fetal head. The normal reference range was developed by measuring 396 healthy fetuses of low-risk singleton pregnancies between 15 and 40 gestational weeks. This reference was applied to 25 fetuses with microcephaly diagnosed prenatally (Fmic) based on HC ≥ 3 SD below the mean for gestational age. We determined an optimal FCD cut-off for combination with HC to detect all cases found with microcephaly at birth (micB), while excluding the fetuses with normal head circumference at birth (NHCB), who were described postnatally as having an acrocephalic-like cranial deformation. RESULTS: In the healthy singleton fetuses, FCD increased with gestational age, with a quadratic equation providing an optimal fit to the data (adjusted R(2) = 0.934). The measurement could be assessed in 95.2% of cases. Of the 25 cases diagnosed with Fmic prenatally, on the basis of HC alone, 14 were micB and 11 were NHCB. We observed FCD below the mean - 2SD for gestational age in all 14 micB cases, but in only four of the 11 NHCB cases (P < 0.003). An acrocephalic-like cranial deformation was described at birth in five of the seven NHCB cases with normal FCD. The mean ± SD FCD Z-score of the micB cases was significantly lower (P < 0.001) than that of the false-positive ones: -3.85 ± 0.96 SD and -1.59 ± 1.45 SD, respectively. Based on HC measurement alone, the positive predictive value (PPV) was 56%. Combination of the HC and FCD criteria raised the PPV to 78%, decreasing the number of false positives from 11 to four, without missing any of the 14 micB cases. CONCLUSIONS: Fetal vertical cranial biometric assessment in the mid-sagittal plane is feasible and correlates well with gestational age. In our series, a vertical cranial deformation was a frequent cause of a false Fmic diagnosis made on the basis of HC alone. Combination of the new vertical cranial biometric measurement with HC measurement can exclude these cases and thus improve diagnostic accuracy for Fmic. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
Assuntos
Biometria/métodos , Erros de Diagnóstico/prevenção & controle , Cabeça/embriologia , Microcefalia/diagnóstico , Feminino , Idade Gestacional , Humanos , Gravidez , Diagnóstico Pré-Natal/métodosRESUMO
OBJECTIVES: To construct nomograms of the dimensions of the fetal posterior fossa (PF), assessed in the mid-sagittal plane in the second and third trimesters, and to assess how measurements from fetuses with PF abnormalities deviate from our normal ranges. METHODS: This was a prospective cross-sectional study of 378 healthy fetuses in low-risk singleton pregnancies between 15 and 35 weeks. PF size was evaluated in the mid-sagittal plane of the fetal head using three-dimensional multiplanar reconstruction (3D-MPR). The borders of the PF were defined from the clivus to the tentorium (clivotentorial distance, CTD) and from the occipital bone to the level of the upper mesencephalic edge (tecto-occipital distance, TOD), and the posterior fossa area (PFA) and perimeter (PFP) were assessed. Growth charts were produced. Thirty-nine fetuses diagnosed with PF malformations were analyzed by calculating the z-scores of PFA, PFP, TOD and CTD, relative to the developed nomograms. RESULTS: Of the 378 healthy fetuses initially included, there were 281 with adequate visualization of the PF borders; i.e. PF mid-sagittal plane morphometry was feasible in 74.3% of cases. There was a linear relationship between each of PFA, PFP, TOD and CTD, and gestational age, with Pearson correlation coefficients of 0.97, 0.97, 0.96 and 0.95, respectively (P < 0.001 for each). Chiari II malformation (CM-II) and Dandy-Walker malformation (DWM) were associated with the greatest difference in PF size compared with normal; PFA z-scores exceeded 2.6 in all five DWM cases and were below -2.66 in all 11 CM-II cases. CONCLUSIONS: Sonographic evaluation of fetal PF size in the mid-sagittal plane is feasible. Our constructed nomograms provide reference data that may be helpful when evaluating PF congenital malformations.
Assuntos
Fossa Craniana Posterior/diagnóstico por imagem , Imageamento Tridimensional/métodos , Nomogramas , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Malformação de Arnold-Chiari/diagnóstico por imagem , Estudos Transversais , Síndrome de Dandy-Walker/diagnóstico por imagem , Feminino , Idade Gestacional , Gráficos de Crescimento , Humanos , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Estudos ProspectivosRESUMO
OBJECTIVES: To apply fetal midbrain (MB) and hindbrain (HB) nomograms, developed using three-dimensional multiplanar sonographic reconstruction (3D-MPR) in the mid-sagittal cranial plane, to fetuses with known posterior fossa malformations. METHODS: In this retrospective study we examined sonographic volumes obtained by sagittal acquisition in 43 fetuses diagnosed with posterior fossa abnormalities and evaluated in the mid-sagittal cranial plane, using 3D-MPR, the following: MB parameters tectal length (TL) and anteroposterior midbrain diameter (APMD), and HB parameters anteroposterior pons diameter (APPD), superoinferior vermian diameter (SIVD) and anteroposterior vermian diameter (APVD). Fetuses were grouped, according to malformation, into eight categories: cobblestone malformation complex (CMC, n = 3), Chiari-II malformation (C-II, n = 7), pontocerebellar hypoplasia (PCH, n = 2), rhombencephalosynapsis (RES, n = 4), Dandy-Walker malformation (n = 8), vermian dysgenesis (VD, n = 7), persistent Blake's pouch cyst (n = 6) and megacisterna magna (n = 6). In each case and for each subgroup, the MB-HB biometric parameters and their z-scores were evaluated with reference to our new nomograms. RESULTS: The new MB-HB nomograms were able to identify the brainstem and vermian anomalies and differentiate fetuses with MB-HB malformations from those with isolated enlarged posterior fossa cerebrospinal fluid spaces. Use of the nomograms enabled detection of an elongated tectum in fetuses with CMC, C-II and RES, and a flattened pontine belly in cases of CMC, PCH and VD. In the fetuses with VD, the nomograms enabled division into three distinctive groups: (1) those with small SIVD and APVD, (2) those with normal SIVD but small APVD, and (3) those with small SIVD but normal APVD. CONCLUSIONS: Application of our new reference data, that for the first time include the MB, enables accurate diagnosis of brain malformations affecting the MB and HB and makes possible novel characterization of previously described features of posterior fossa anomalies.
Assuntos
Fossa Craniana Posterior/anormalidades , Mesencéfalo/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Rombencéfalo/anormalidades , Malformação de Arnold-Chiari/diagnóstico por imagem , Malformação de Arnold-Chiari/embriologia , Malformação de Arnold-Chiari/patologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/embriologia , Doenças Cerebelares/patologia , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/patologia , Humanos , Imageamento Tridimensional , Mesencéfalo/diagnóstico por imagem , Mesencéfalo/embriologia , Nomogramas , Tamanho do Órgão , Estudos Retrospectivos , Rombencéfalo/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodosRESUMO
OBJECTIVE: To construct nomograms for fetal midbrain (MB) and hindbrain (HB) dimensions, assessed in the mid-sagittal cranial plane by three-dimensional multiplanar sonographic reconstruction (3D-MPR). METHODS: This was a prospective cross-sectional study of 334 healthy fetuses in low-risk singleton pregnancies between 16 and 35 gestational weeks. All sonographic volumes were obtained by sagittal acquisition. The following MB and HB parameters were evaluated in the mid-sagittal cranial plane using 3D-MPR: MB parameters tectal length (TL) and anteroposterior midbrain diameter (APMD), and HB parameters anteroposterior pons diameter (APPD), superoinferior vermian diameter (SIVD), anteroposterior vermian diameter (APVD) and anteroposterior diameter of the fourth ventricle (APDFV). The measurements were presented as growth charts according to gestational age. RESULTS: MB and HB biometry were best assessed between 19 and 29 weeks. During this period, adequate visualization was achieved for successful measurement of TL in 90.9% of cases, APMD in 86.6%, APPD in 73.7%, SIVD in 74.2%, APVD in 71% and APDFV in 71%. There was a linear growth pattern, with Pearson correlation coefficients of 0.79 for TL, 0.88 for APMD, 0.91 for APPD, 0.95 for SIVD, 0.88 for APVD and 0.88 for APDFV (P < 0.0001 for each). The mean intra- and interobserver variations for the MB measurements and vermian diameters ranged between 4.3% and 9%. APPD and APDFV showed highest mean variations: 9.0% and 19.4% (intraobserver) and 11.6% and 17.7% (interobserver), respectively. CONCLUSION: We present new nomograms for assessment of the fetal MB and HB using 3D-MPR in the mid-sagittal cranial plane. To our knowledge, these are the first proposed nomograms for fetal MB dimensions.
Assuntos
Mesencéfalo/diagnóstico por imagem , Nomogramas , Rombencéfalo/diagnóstico por imagem , Estudos Transversais , Humanos , Imageamento Tridimensional , Mesencéfalo/embriologia , Tamanho do Órgão , Ponte/diagnóstico por imagem , Ponte/embriologia , Estudos Prospectivos , Rombencéfalo/embriologia , Ultrassonografia Pré-Natal/métodosRESUMO
OBJECTIVE: To examine the feasibility of ultrasonographic imaging of fetal tympanic rings. METHODS: This was an observational cohort study of 80 healthy fetuses in low-risk pregnancies, divided into four gestational-age subgroups (12, 16, 23 and 32 weeks), each comprising 20 consecutive fetuses. Tympanic ring visualization was achieved by two-dimensional and three-dimensional (3D) sonography. A standard algorithm for tympanic ring examination was constructed using 3D multiplanar reconstruction. The volume acquisition plane was directed to the inferolateral aspect of the fetal temporal bone. Transvaginal scans were carried out in the 12-week and 16-week subgroups, and transabdominal scans in the 23-week and 32-week subgroups. Study parameters included the inferomedial inclination angle (IMIA) of the tympanic ring relative to the vertical skull axis, the anteromedial inclination angle (AMIA) of the tympanic ring relative to the anteroposterior skull axis and the longest (LTRD) and shortest (STRD) tympanic ring diameter, the latter measured perpendicular to the LTRD. The feasibility of tympanic ring demonstration was assessed in each gestational-age subgroup. RESULTS: Tympanic rings appeared as round-oval, thin, echogenic structures in a plane tangential to the inferolateral surface of the fetal skull below the inferior border of the squamous part of the temporal bone. Higher demonstration rates were achieved in the 16-week and 23-week subgroups (90% and 80%, respectively) than in the others. LTRD and STRD each showed a linear correlation with gestational age (r = 0.96 for both measurements; P < 0.01). Mean IMIA ranged from 41.0 to 60.4° and mean AMIA from 17.3 to 23.4° across the different gestational-age subgroups. The malleal manubrium was observed only in examinations in the second half of pregnancy, appearing as a bright echo within the upper area of the tympanic ring in 56% (9/16) and 82% (9/11) of cases with tympanic ring imaging appropriate for measurement of the study parameters in the 23-week and 32-week subgroups, respectively. CONCLUSION: This is the first report of sonographic imaging of fetal tympanic rings and shows that this is feasible in the second trimester. We discuss the possible implications of our findings for the prenatal diagnosis of congenital hearing loss.
Assuntos
Desenvolvimento Fetal/fisiologia , Imageamento Tridimensional/métodos , Segundo Trimestre da Gravidez , Osso Temporal/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Estudos de Viabilidade , Feminino , Idade Gestacional , Humanos , Gravidez , Osso Temporal/embriologiaRESUMO
BACKGROUND AND PURPOSE: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book Pediatric Neuroimaging from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation. MATERIALS AND METHODS: This is a multicenter, international, retrospective study. We assessed the patients' medical records, prenatal ultrasounds, MR images, genetic findings, and postmortem results. We reviewed the medical literature for all studies depicting medullary malformations and evaluated cases in which a dorsal medullary protuberance was described. RESULTS: We collected 13 patients: 3 fetuses and 10 children. The medullary caps had multiple characteristics. Associated brain findings were a rotated position of the medulla, a small and flat pons, cerebellar anomalies, a molar tooth sign, and agenesis of the corpus callosum. Systemic findings included the following: polydactyly, hallux valgus, large ears, and coarse facies. Postmortem analysis in 3 patients revealed that the cap contained either neurons or white matter tracts. We found 8 publications describing a dorsal medullary protuberance in 27 patients. The syndromic diagnosis was Joubert-Boltshauser syndrome in 11 and fibrodysplasia ossificans progressiva in 14 patients. CONCLUSIONS: This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in the clinical, imaging, and postmortem findings, we conclude that there are multiple etiologies and pathophysiology. We suggest that in some patients, the pathophysiology might be abnormal axonal guidance.
Assuntos
Doenças Renais Císticas , Malformações do Sistema Nervoso , Gravidez , Feminino , Humanos , Criança , Estudos Retrospectivos , Cerebelo/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Feto , Imageamento por Ressonância Magnética , Estudos Multicêntricos como AssuntoRESUMO
We present a case of a 36-year-old pregnant woman with varicose veins of the uterine cervix diagnosed during the second trimester. The cervical tissue was completely replaced with dilated venous plexus. Therapeutic decisions were further complicated by the presence of blood clots within the dilated vessels. Pregnancy proceeded uneventfully, no bleeding occurred and the patient underwent a planned Cesarean delivery. This is the first reported case in the medical literature where the rare phenomenon of cervical varices was accompanied by thrombosis.
Assuntos
Colo do Útero/irrigação sanguínea , Colo do Útero/diagnóstico por imagem , Trombose/diagnóstico por imagem , Varizes/diagnóstico por imagem , Adulto , Colo do Útero/cirurgia , Cesárea , Feminino , Humanos , Gravidez , Complicações Cardiovasculares na Gravidez/diagnóstico por imagem , Complicações Cardiovasculares na Gravidez/cirurgia , Trombose/etiologia , Trombose/cirurgia , Resultado do Tratamento , Ultrassonografia , Varizes/complicações , Varizes/cirurgiaRESUMO
Detorsion of an ischemic adnexal mass has recently been advocated for most cases of twisted adnexa. Usually, the affected ovary regains some or all of its vitality and function. However, when the ovary is completely necrotic, it may form an abscess if it contains tissue components that cannot be eliminated by the peritoneal immune system. We report a case of pelvic abscess formation in a detorsed ovary that previously contained an unsuspected dermoid cyst. We call for an extensive inspection of the detorsed ovary before ending the laparoscopic operation, and if it remains necrotic and is suspected of containing a dermoid cyst, it should be removed promptly.
Assuntos
Abscesso Abdominal/etiologia , Doenças dos Anexos/complicações , Cisto Dermoide/complicações , Laparoscopia , Ovário/patologia , Complicações Pós-Operatórias , Anormalidade Torcional/complicações , Abscesso Abdominal/cirurgia , Doenças dos Anexos/cirurgia , Adulto , Feminino , Procedimentos Cirúrgicos em Ginecologia , Humanos , Necrose , Ovário/irrigação sanguínea , Ovário/cirurgia , Reoperação , Anormalidade Torcional/cirurgiaRESUMO
OBJECTIVE: To determine the usefulness of 3-dimensional (3D) power Doppler ultrasound in distinguishing painful leiomyomas from focal myometrial contractions or nonpainful leiomyomas in pregnancy. METHODS: A 2D section of the area of interest in the uterine wall was first obtained in 29 patients to determine whether the pain originated from a myoma or a uterine contraction. Then, volume acquisition was activated and Doppler indices (vascularization index, flow index, and vascularization-flow index) were calculated for thickened and normal uterine wall. RESULTS: Of 15 patients found to have uterine myomas, 11 had multiple tumors and 4 had single tumors. In the remaining 14 patients the painful uterine thickening proved to be a focal contraction. Painful segments of uterine thickening were associated with lower Doppler indices. Painful myomas were found to have significantly lower indices than normal uterine wall (P=0.008, 0.03, and 0.01 for VI, FI, and VFI, respectively, vs. 0.001, 0.003, and 0.01). However, the differences in indices between nonpainful myomas and uterine wall on the one hand, and nonpainful myomas and focal uterine contractions on the other, were not statistically significant. CONCLUSION: Three-dimensional power Doppler ultrasound may be a sensitive and reliable tool for distinguishing painful uterine myomas from focal myometrial contractions and nonpainful myomas.
Assuntos
Leiomioma/diagnóstico por imagem , Complicações Neoplásicas na Gravidez/diagnóstico por imagem , Neoplasias Uterinas/diagnóstico por imagem , Útero/diagnóstico por imagem , Dor Abdominal/etiologia , Adulto , Feminino , Humanos , Imageamento Tridimensional , Gravidez , Ultrassonografia Doppler , Contração Uterina , Útero/irrigação sanguínea , Útero/patologiaRESUMO
There are many articles on the connection between the spirit and the body and the influence of a good mood on the way people deal with physical problems. This paper will demonstrate that the use of humour is a way of influencing our patients' spirit in order to help them deal with problems relating to their illness. In our every day experience with renal patients, we have noticed that humour helps us reduce patients' anxiety, before the first dialysis, before using the dialysis needles, or before performing painful procedures. Humour also helps us to offset the anger patients often express during treatment. Humour brings about a better atmosphere and the possibility of creating positive communication with the patients in a more relaxed environment and in a much more effective way. Our findings are similar to those in the literature and conclude that humour is an aid for dealing with patients' problems.
Assuntos
Recursos Humanos de Enfermagem Hospitalar/psicologia , Diálise Peritoneal Ambulatorial Contínua/enfermagem , Diálise Peritoneal Ambulatorial Contínua/psicologia , Diálise Renal/enfermagem , Diálise Renal/psicologia , Senso de Humor e Humor como Assunto , Adaptação Psicológica , Humanos , Israel , Falência Renal Crônica/terapia , Relações Enfermeiro-PacienteAssuntos
Encéfalo/enzimologia , Fosfolipases/isolamento & purificação , Animais , Isótopos de Carbono , Fenômenos Químicos , Precipitação Química , Química , Cromatografia em Gel , Concentração de Íons de Hidrogênio , Cinética , Lisofosfatidilcolinas , Métodos , Peso Molecular , Ratos , Trítio , VibraçãoAssuntos
Encéfalo/enzimologia , Gangliosídeos , Neuraminidase , Animais , Química Encefálica , Catálise , Bovinos , Centrifugação , Cromatografia em Camada Fina , Detergentes , Estabilidade de Medicamentos , Concentração de Íons de Hidrogênio , Modelos Biológicos , Desnaturação Proteica , Dióxido de Silício , SolubilidadeRESUMO
OBJECTIVE: To study inter-twin differences in activity during early pregnancy and to examine their relationship to subsequent infant twins' temperament. STUDY DESIGN: Measures of fetal motor activity (frequency, duration and number of movements) were collected from 26 twin pairs during ultrasound nuchal translucency scan at late first trimester and early second trimester (11 to 14 weeks gestation). In twenty-two patients, the twins were dizygotic (dichorionic); of them, 13 twin pairs were of different sexes, five were both females and four were both males. Of the four monozygotic twin pregnancies, two were dichorionic and two were monochorionic, three were both females.The more active fetus in each pair was noted according to the position and/or sex without reporting to parents. Reported maternal perception of the more active twin was documented at the mid-trimester anatomical scan. Maternally reported postnatal temperament data of the infants were collected at 3 and 6 months, using Rothbarts' Infant Behavior Questionnaire (IBQ). RESULTS: After birth, maternal reports on infants' temperament and the more active twin in each pair were in good correlation with prenatal inter-twin differences in activity. The receiver operating characteristic (ROC) curves shows a better performance of ultrasound compared with maternal perception in prediction of the more active twin. CONCLUSIONS: The features of fetal neurobehavioral activity provide the basis for individual differences in twins' activity in infancy. Differences in activity in early pregnancy even before the emergence of fetal behavioral patterns were followed by temperamental differences postnatally.