Visualization of the fetal anus by prenatal ultrasound for the diagnosis of anorectal malformations: is it feasible?

PURPOSE: The goal of this study was to determine the feasibility of identifying the anal dimple (AD) on routine prenatal ultrasound. Using the presence, absence, appearance, and location of the anal dimple as an indirect sign for possible underlying anorectal malformations (ARM), we hypothesize that evaluation of the anal dimple as part of the fetal anatomic survey may increase the sensitivity in detecting less severe ARMs. METHODS: In a prospective longitudinal observational study, pregnant women who underwent prenatal ultrasound (US) at the Colorado Fetal Care Center between January 2019 and 2020 were enrolled. The variables recorded included gestational age, singleton versus multiple pregnancy, gender of the fetus, visualization of the AD, and reason for non-visualization of the AD. RESULTS: A total of 900 ultrasounds were performed, evaluating 1044 fetuses, in 372 different pregnant women. Gestational ages ranged from 16 to 38 weeks. The AD was visualized in 612 fetuses (58.6%) and not seen in 432 (41.4%). The two most common reasons for non-visualization were extremes in gestational age (n = 155; 36%) and fetal position (n = 152; 35.3%). The optimal gestational age range for AD visualization was 28-33 weeks + 6 days, with 78.1% visualization rate. CONCLUSION: Visualization of the anal dimple by ultrasound is feasible and may aid in the detection of less severe ARMs, ultimately impacting pregnancy management and family counseling. The optimal timing for anal dimple visualization is late second and third trimester.

Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development.

The increase in understanding of molecular biology and recent advances in genetic testing have caused rapid growth in knowledge of genetic causes of malformations of cortical development. Imaging diagnosis of malformations of cortical development can be made prenatally in a large subset of fetuses based on the presence of specific deviations from the normal pattern of development, characteristic imaging features, and associated non-central-nervous-system (CNS) abnormalities. In this review the authors discuss the role of four key cell molecules/molecular pathways in corticogenesis that are frequently implicated in complex prenatally diagnosed malformations of cortical development. The authors also list the currently described genes causing defects in these molecules/molecular pathways when mutated, and the constellation of imaging findings resultant of such defects.

Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure.

Dysplastic megalencephaly, also known as bilateral hemimegalencephaly, is a rare cerebral malformation characterized by bilateral cerebral hemisphere overgrowth and extensive malformation of cortical development. Affected patients present clinically with intractable seizures, severe neurological impairment and global developmental delay. There is a small body of literature reporting megalencephaly's association with neonatal high-output cardiac failure and a lack of literature describing prenatal findings. We report a case of dysplastic megalencephaly presenting with progressive high-output cardiac failure during fetal life. Prenatal and postnatal imaging findings as well as neonatal course are described. A companion case with similar imaging findings will help illustrate the prenatal imaging characteristics of this association. Knowledge of this potential complication related to dysplastic megalencephaly may help guide parental counseling and obstetric management.

Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US.

BACKGROUND: Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI. OBJECTIVE: To describe the MRI findings in amniotic band sequence and to compare the diagnostic accuracy of MRI and US. MATERIALS AND METHODS: Prenatal MRI and US studies were retrospectively reviewed in 14 consecutive pregnancies with confirmed amniotic band sequence. Both studies were evaluated for amniotic band visualization, body part affected, type of deformity, umbilical cord involvement and vascular abnormality. RESULTS: Amniotic bands were confidently identified with MRI in 8 fetuses (57%), suggested with MRI in 3 fetuses (21%) and confidently seen by US in 13 fetuses (93%). Neither modality detected surgically proven bands on one fetus. Both techniques were equally able to define the body part affected and the type of deformity. At least one limb abnormality was visualized in all cases and truncal involvement was present in two cases. Cord involvement was identified in seven cases, with one case detected only by MRI. CONCLUSION: Fetal MRI is able to visualize amniotic bands and their secondary manifestations and could be complementary to prenatal US when fetal surgery is contemplated.

Prenatal MRI findings of fetuses with congenital high airway obstruction sequence.

OBJECTIVE: To define the MRI findings of congenital high airway obstruction sequence (CHAOS) in a series of fetuses. MATERIALS AND METHODS: Prenatal fetal MR images were reviewed in seven fetuses with CHAOS at 21 to 27 weeks of gestation. The MRI findings were reviewed. The MRI parameters evaluated included the appearance of the lungs and diaphragm, presence or absence of hydrops, amount of amniotic fluid, airway appearance, predicted level of airway obstruction, and any additional findings or suspected genetic syndromes. RESULTS: All the fetuses viewed (7 of 7) demonstrated the following MRI findings: dilated airway below the level of obstruction, increased lung signal, markedly increased lung volumes with flattened or inverted hemidiaphragms, massive ascites, centrally positioned and compressed heart, as well as placentomegaly. Other frequent findings were anasarca (6 of 7) and polyhydramnios (3 of 7). MRI identified the level of obstruction as laryngeal in five cases and tracheal in two cases. In four of the patients, surgery or autopsy confirmed the MRI predicted level of obstruction. Associated abnormalities were found in 4 of 7 (genetic syndromes in 2). Postnatal radiography (n = 3) showed markedly hyperinflated lungs with inverted or flattened hemidiaphragms, strandy perihilar opacities, pneumothoraces and tracheotomy. Two fetuses were terminated and one fetus demised in utero. Four fetuses were delivered via ex utero intrapartum treatment procedure. CONCLUSION: MRI shows a consistent pattern of abnormalities in fetuses with CHAOS, accurately identifies the level of airway obstruction, and helps differentiate from other lung abnormalities such as bilateral congenital pulmonary airway malformation by demonstrating an abnormally dilated airway distal to the obstruction.

The frequency of lingual tonsil enlargement in obese children.

OBJECTIVE: Enlargement of the lingual tonsils is being increasingly recognized as a not uncommon and treatable cause of obstructive sleep apnea, particularly in patients with Down syndrome who have undergone palatine tonsillectomy and adenoidectomy. We have recognized an increasing number of patients who are obese and have obstructive sleep apnea with enlarged lingual tonsils. The purpose of this study was to evaluate the frequency of enlarged lingual tonsils in obese children. SUBJECTS AND METHODS: Seventy-one obese children (mean body mass index = 41.6 kg/m(2)) underwent sagittal fast spin-echo inversion recovery imaging. Lingual tonsils were identified and measured in the greatest anteroposterior diameter. Lingual tonsils > 10 mm were considered markedly enlarged. The subgroup with absent palatine tonsils (previous tonsillectomy) (n = 41) were compared with those with palatine tonsils present (n = 30). RESULTS: Forty-four (62%) of the obese children had measurable lingual tonsils, which is greater than the frequency previously reported in normal subjects (0%), subjects with obstructive sleep apnea (33%), or subjects with Down syndrome and obstructive sleep apnea (50%). Ten (14%) had lingual tonsils > 10 mm. Obese subjects with absent palatine tonsils (previous tonsillectomy) had a higher prevalence of measurable lingual tonsils than those with palatine tonsils (78% vs 22%, respectively; p < 0.001) and a higher prevalence of lingual tonsils > 10 mm (90% vs 10%, p < 0.001). CONCLUSION: Obese children have a high frequency of enlargement of the lingual tonsils with a significantly higher prevalence in those with previous tonsillectomy. Enlarged lingual tonsils may play a role in the pathogenesis of obstructive sleep apnea in obese children.

CT findings for blebs and bullae in children with spontaneous pneumothorax and comparison with findings in normal age-matched controls.

BACKGROUND: Spontaneous pneumothorax (SPTX) is a relatively common condition. In patients with SPTX, CT has been advocated to identify blebs and bullae (BB) to help in management planning. PURPOSE: The study was designed to assess our experience with CT evaluation for underlying BB in children with SPTX as compared to normal controls. MATERIALS AND METHODS: Forty-three children (mean age 16 years, range 13-19 years) with 50 SPTX events with both chest radiographs and CT scans were reviewed. CT findings were compared with those seen in 29 age- and gender-matched controls without SPTX. The parameters evaluated included size, number, location, and ipsi-/contralateral BB; apical lines; and surgical correlation. RESULTS: In the study group, BB were identified in 14 imaged events (28%) (size 2.5-45 mm, one to six BB) with contralateral BB in 11 of the 14 (78.6%). All BB were confined to the apices. BB were sometimes difficult to differentiate from "apical lines"--a suspected normal variant seen in 28 imaged events (56%). Of blebs seen at surgery, 59% were identified on CT, and there were no false-positive CT findings. In the control group, no BB were identified but "apical lines" were seen in eight children (28%). CONCLUSION: BB were seen by CT in 28% of imaged events in children with SPTX and were always confined to the apices. When present, BB were commonly bilateral (78.6%). BB should not be confused with "apical lines," which were not only seen in 56% of imaged events in the SPTX group but also in 28% of the normal controls.

Epidemiologia dos tumores do sistema nervoso central, Hospital Nossa Senhora de Pompéia, Serviço de Neurocirurgia. A propósito de 100 casos estudados / Epidemiology of central nervous system tumors, Nossa Senhora de Pompéia Hospital, Neurosurgery's service, about 100 studies cases

As neoplasias intracranianas säo uma das principais causas de morte entre a populaçäo em geral, tendo um aumento nas taxas de mortalidade proporcional ao aumento da idade do paciente. No total, estima-se que o câncer do SNC compreende 1,1 por cento dos tumores malignos de ocorrência recente, sendo a terceira causa de mortes entre os 15 e 34 anos de idade e a quarta em homens entre 35 e 54 anos. Será discutida a epidemiologia e apresentada uma revisäo bibliográfica dos casos selecionados com neoplasias intracranianas no Hospital Nossa Senhora de Pompéia (HNSP) de Caxias do Sul (RS), no período de 1992 a 2000.