Anomaly Scan Research Articles

Evaluation and Significance of Nonvisualization of the Cavum Septum Pellucidum on Prenatal Ultrasonography.

The identification of the cavum septum pellucidum (CSP) is an integral part of the routine second trimester fetal anatomy scan. The absence or nonvisualization of the CSP has significant clinical implications and requires further evaluation and counseling for the pregnant patient. The aim of this review is to review the importance of accurate sonographic identification of the CSP and the underlying pathologies that can be associated with nonvisualization of this structure. A literature review was performed with PubMed using key words including CSP, fetal anatomy ultrasound, and fetal anomalies. The absence of the CSP is associated with several central nervous system pathologies, all with a wide range of phenotypic outcomes, ranging from normal to very severe or lethal. Most obstetrician-gynecologists will have a patient in whom a CSP is not identified on fetal ultrasound. Thus, it is imperative to have a general understanding of this relatively common entity.

Evaluation and Significance of Nonvisualization of the Cavum Septum Pellucidum on Prenatal Ultrasonography

ABSTRACT Importance The identification of the cavum septum pellucidum (CSP) is an integral part of the routine second trimester fetal anatomy scan. The absence or nonvisualization of the CSP has significant clinical implications and requires further evaluation and counseling for the pregnant patient. Objective The aim of this review is to review the importance of accurate sonographic identification of the CSP and the underlying pathologies that can be associated with nonvisualization of this structure. Evidence Acquisition A literature review was performed with PubMed using key words including CSP, fetal anatomy ultrasound, and fetal anomalies. Results The absence of the CSP is associated with several central nervous system pathologies, all with a wide range of phenotypic outcomes, ranging from normal to very severe or lethal. Relevance Most obstetrician-gynecologists will have a patient in whom a CSP is not identified on fetal ultrasound. Thus, it is imperative to have a general understanding of this relatively common entity. Target Audience Obstetricians and gynecologists, family physicians Learning Objectives After completing this activity, the learner will be able to describe the CSP, the importance of accurate identification on ultrasonography, and the pitfalls to avoid/be aware of; explain the additional workup required in the setting of absent CSP including utility of antenatal ultrasound, fetal magnetic resonance imaging, and genetic counseling; and discuss the various pathologies that have an association with the absence of the CSP and patient counseling regarding the absence of the CSP.

Unique longitudinal contributions of sulcal interruptions to reading acquisition in children.

A growing body of literature indicates strong associations between indentations of the cerebral cortex (i.e., sulci) and individual differences in cognitive performance. Interruptions, or gaps, of sulci (historically known as pli de passage) are particularly intriguing as previous work suggests that these interruptions have a causal effect on cognitive development. Here, we tested how the presence and morphology of sulcal interruptions in the left posterior occipitotemporal sulcus (pOTS) longitudinally impact the development of a culturally-acquired skill: reading. Forty-three children were successfully followed from age 5 in kindergarten, at the onset of literacy instruction, to ages 7 and 8 with assessments of cognitive, pre-literacy, and literacy skills, as well as MRI anatomical scans at ages 5 and 8. Crucially, we demonstrate that the presence of a left pOTS gap at 5 years is a specific and robust longitudinal predictor of better future reading skills in children, with large observed benefits on reading behavior ranging from letter knowledge to reading comprehension. The effect of left pOTS interruptions on reading acquisition accumulated through time, and was larger than the impact of benchmark cognitive and familial predictors of reading ability and disability. Finally, we show that increased local U-fiber white matter connectivity associated with such sulcal interruptions possibly underlie these behavioral benefits, by providing a computational advantage. To our knowledge, this is the first quantitative evidence supporting a potential integrative gray-white matter mechanism underlying the cognitive benefits of macro-anatomical differences in sulcal morphology related to longitudinal improvements in a culturally-acquired skill.

Neural correlates of inattention in adults with ADHD.

In the last two decades, numerous magnetic resonance imaging (MRI) studies have examined differences in cortical structure between individuals with Attention-Deficit/Hyperactivity Disorder (ADHD) and healthy controls. These studies primarily emphasized alterations in gray matter volume (GMV) and cortical thickness (CT). Still, the scientific literature is notably scarce in regard to investigating associations of cortical structure with ADHD psychopathology, specifically inattention within adults with ADHD. The present study aimed to elucidate neurobiological underpinnings of inattention beyond GMV and CT by including cortical gyrification, sulcal depth, and fractal dimension. Building upon the Comparison of Methylphenidate and Psychotherapy in Adult ADHD Study (COMPAS), cortical structure parameters were investigated using 141 T1-weighted anatomical scans of adult patients with ADHD. All brain structural analyses were performed using the threshold-free cluster enhancement (TFCE) approach and the Computational Anatomy Toolbox (CAT12) integrated into the Statistical Parametric Mapping Software (Matlab Version R2021a). Results revealed significant correlations of inattention in multiple brain regions. Cortical gyrification was negatively correlated, whereas cortical thickness and fractal dimension were positively associated with inattention. The clusters showed widespread distribution across the cerebral cortex, with both hemispheres affected. The cortical regions most prominently affected included the precuneus, para-, pre-, and postcentral gyri, superior parietal lobe, and posterior cingulate cortex. This study highlights the importance of cortical alterations in attentional processes in adults with ADHD. Further research in this area is warranted to elucidate intricacies of inattention in adults with ADHD to potentially enhance diagnostic accuracy and inform personalized treatment strategies.

Joint diffusion: mutual consistency-driven diffusion model for PET-MRI co-reconstruction

Objective. Positron Emission Tomography and Magnetic Resonance Imaging (PET-MRI) systems can obtain functional and anatomical scans. But PET suffers from a low signal-to-noise ratio, while MRI are time-consuming. To address time-consuming, an effective strategy involves reducing k-space data collection, albeit at the cost of lowering image quality. This study aims to leverage the inherent complementarity within PET-MRI data to enhance the image quality of PET-MRI. Approach. A novel PET-MRI joint reconstruction model, termed MC-Diffusion, is proposed in the Bayesian framework. The joint reconstruction problem is transformed into a joint regularization problem, where data fidelity terms of PET and MRI are expressed independently. The regular term, the derivative of the logarithm of the joint probability distribution of PET and MRI, employs a joint score-based diffusion model for learning. The diffusion model involves the forward diffusion process and the reverse diffusion process. The forward diffusion process adds noise to transform a complex joint data distribution into a known joint prior distribution for PET and MRI simultaneously, resembling a denoiser. The reverse diffusion process removes noise using a denoiser to revert the joint prior distribution to the original joint data distribution, effectively utilizing joint probability distribution to describe the correlations of PET and MRI for improved quality of joint reconstruction. Main results. Qualitative and quantitative improvements are observed with the MC-Diffusion model. Comparative analysis against LPLS and Joint ISAT-net on the ADNI dataset demonstrates superior performance by exploiting complementary information between PET and MRI. The MC-Diffusion model effectively enhances the quality of PET and MRI images. Significance. This study employs the MC-Diffusion model to enhance the quality of PET-MRI images by integrating the fundamental principles of PET and MRI modalities and leveraging their inherent complementarity. Furthermore, utilizing the diffusion model to learn the joint probability distribution of PET and MRI, thereby elucidating their latent correlation, facilitates a more profound comprehension of the priors obtained through deep learning, contrasting with black-box prior or artificially constructed structural similarities.

Anatomical and behavioral correlates of auditory perception in developmental dyslexia.

Developmental dyslexia is typically associated with difficulties in basic auditory processing and in manipulating speech sounds. However, the neuroanatomical correlates of auditory difficulties in developmental dyslexia (DD) and their contribution to individual clinical phenotypes are still unknown. Recent intracranial electrocorticography findings associated processing of sound amplitude rises and speech sounds with posterior and middle superior temporal gyrus (STG), respectively. We hypothesize that regional STG anatomy will relate to specific auditory abilities in DD, and that auditory processing abilities will relate to behavioral difficulties with speech and reading. One hundred and ten children (78 DD, 32 typically developing, age 7-15 years) completed amplitude rise time and speech in noise discrimination tasks. They also underwent a battery of cognitive tests. Anatomical MRI scans were used to identify regions in which local cortical gyrification complexity correlated with auditory behavior. Behaviorally, amplitude rise time but not speech in noise performance was impaired in DD. Neurally, amplitude rise time and speech in noise performance correlated with gyrification in posterior and middle STG, respectively. Furthermore, amplitude rise time significantly contributed to reading impairments in DD, while speech in noise only explained variance in phonological awareness. Finally, amplitude rise time and speech in noise performance were not correlated, and each task was correlated with distinct neuropsychological measures, emphasizing their unique contributions to DD. Overall, we provide a direct link between the neurodevelopment of the left STG and individual variability in auditory processing abilities in neurotypical and dyslexic populations.

The myelin water imaging transcriptome: myelin water fraction regionally varies with oligodendrocyte-specific gene expression

Identifying sensitive and specific measures that can quantify myelin are instrumental in characterizing microstructural changes in neurological conditions. Neuroimaging transcriptomics is emerging as a valuable technique in this regard, offering insights into the molecular basis of promising candidates for myelin quantification, such as myelin water fraction (MWF). We aimed to demonstrate the utility of neuroimaging transcriptomics by validating MWF as a myelin measure. We utilized data from a normative MWF brain atlas, comprised of 50 healthy subjects (mean age = 25 years, range = 17–42 years) scanned at 3 Tesla. Magnetic resonance imaging data included myelin water imaging to extract MWF and T1 anatomical scans for image registration and segmentation. We investigated the inter-regional distributions of gene expression data from the Allen Human Brain Atlas in conjunction with inter-regional MWF distribution patterns. Pearson correlations were used to identify genes with expression profiles mirroring MWF. The Single Cell Type Atlas from the Human Protein Atlas was leveraged to classify genes into gene sets with high cell type specificity, and a control gene set with low cell type specificity. Then, we compared the Pearson correlation coefficients for each gene set to determine if cell type-specific gene expression signatures correlate with MWF. Pearson correlation coefficients between MWF and gene expression for oligodendrocytes and adipocytes were significantly higher than for the control gene set, whereas correlations between MWF and inhibitory/excitatory neurons were significantly lower. Our approach in integrating transcriptomics with neuroimaging measures supports an emerging technique for understanding and validating MRI-derived markers such as MWF.

Probe motion during mid-trimester fetal anomaly scan in the clinical setting: A prospective observational study

IntroductionThis study aims to investigate probe motion during full mid-trimester anomaly scans. MethodsWe undertook a prospective, observational study of obstetric sonographers at a UK University Teaching Hospital. We collected prospectively full-length video recordings of routine second-trimester anomaly scans synchronized with probe trajectory tracking data during the scan. Videos were reviewed and trajectories analyzed using duration, path metrics (path length, velocity, acceleration, jerk, and volume) and angular metrics (spectral arc, angular area, angular velocity, angular acceleration, and angular jerk). These trajectories were then compared according to the participant level of expertise, fetal presentation, and patient BMI. ResultsA total of 17 anomaly scans were recorded. The average velocity of the probe was 12.9 ± 3.4 mm/s for the consultants versus 24.6 ± 5.7 mm/s for the fellows (p = 0.02), the average acceleration 170.4 ± 26.3 mm/s2 versus 328.9 ± 62.7 mm/s2 (p = 0.02), and the average jerk 7491.7 ± 1056.1 mm/s3 versus 14944.1 ± 3146.3 mm/s3 (p = 0.02), the working volume 9.106 ± 4.106 mm3 versus 29.106 ± 11.106 mm3 (p = 0.03), respectively. The angular metrics were not significantly different according to the participant level of expertise, the fetal presentation, or to patients BMI. ConclusionSome differences in the probe path metrics (velocity, acceleration, jerk and working volume) were noticed according to operator’s level.

Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.

To assess the diagnostic accuracy of two-dimensional ultrasound at 11-14 weeks' gestation as a screening test for individual fetal anomalies and to identify factors impacting on screening performance. This was a systematic review and meta-analysis that was developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and the Cochrane Library were searched for studies evaluating the diagnostic accuracy of screening for 16 predefined, non-cardiac, congenital anomalies considered to be of interest to the early anomaly scan. We included prospective and retrospective studies from any healthcare setting conducted in low-risk, mixed-risk and unselected populations. The reference standard was the detection of an anomaly on postnatal or postmortem examination. Data were extracted to populate 2 × 2 tables and a random-effects model was used to determine the diagnostic accuracy of screening for the predefined anomalies (individually and as a composite). Secondary analyses were performed to determine the impact on detection rates of imaging protocol, type of ultrasound modality, publication year and index of sonographer suspicion at the time of scanning. Post-hoc secondary analysis was conducted to assess performance among studies published during or after 2010. Risk of bias assessment and quality assessment were undertaken for included studies using the Quality Assessment of Diagnostic Accuracy Studies-2 tool. From 5684 citations, 202 papers underwent full-text review, resulting in the inclusion of 52 studies comprising 527 837 fetuses, of which 2399 were affected by one or more of the 16 predefined anomalies. Individual anomalies were not equally amenable to detection on first-trimester ultrasound: a high (> 80%) detection rate was reported for severe conditions, including acrania (98%), gastroschisis (96%), exomphalos (95%) and holoprosencephaly (88%); the detection rate was lower for open spina bifida (69%), lower urinary tract obstruction (66%), lethal skeletal dysplasias (57%) and limb-reduction defects (50%); and the detection rate was below 50% for facial clefts (43%), polydactyly (40%) and congenital diaphragmatic hernia (38%). Conditions with a low (< 30%) detection rate included bilateral renal agenesis (25%), closed spina bifida (21%), isolated cleft lip (14%) and talipes (11%). Specificity was > 99% for all anomalies. Secondary analysis showed that detection improved with advancing publication year, and that the use of imaging protocols had a statistically significant impact on screening performance (P < 0.0001). The accurate detection of congenital anomalies using first-trimester ultrasound is feasible, although detection rates and false-positive rates depend on the type of anomaly. The use of a standardized protocol allows for diagnostic performance to be maximized, particularly for the detection of spina bifida, facial clefts and limb-reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining factors enhancing screening performance can support the development of first-trimester anomaly screening programs. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Introduction of a nationwide first-trimester anomaly scan in the Dutch national screening program

BackgroundA significant proportion of major fetal structural anomalies can be detected in the first trimester by ultrasound examination. However, the test performance of the first-trimester anomaly scan (FTAS) performed in a low-risk population as part of a nationwide prenatal screening program is unknown. Potential benefits of the FTAS include early detection of fetal anomalies, providing parents with more time for reproductive decision-making. ObjectivesTo investigate the uptake, test performance and time to a final prenatal diagnosis after referral. Study designA nationwide implementation study was conducted in the Netherlands (November 2021-November 2022). The FTAS was performed between 12+3 and 14+3 weeks gestation by certified sonographers using a standard protocol. Women were referred to a tertiary care center if anomalies were suspected. Uptake, test performance and time to a final prenatal diagnosis (days between referral and date of final diagnosis/prognosis for reproductive decision-making) were determined. Test performance was calculated for first-trimester major congenital anomalies, such as anencephaly and holoprosencephaly and all diagnosed anomalies <24 weeks gestation. ResultsThe FTAS uptake was 74.9% (129 704/173 129). In 1.0% (1 313/129 704), an anomaly was suspected, of which 54.9% (n=721) had abnormal findings on the detailed first-trimester diagnostic scan and 44.6% (n=586) showed normal results. In 0.5% (n=6), intra-uterine fetal death occurred. In the total group of 721 cases with abnormal findings, 332 structural anomalies, 117 genetic anomalies, 82 other findings (abnormal fetal biometry, sonomarkers, placental/umbilical cord anomaly, an-/oligohydramnios) and 189 cases with transient findings (defined as ultrasound findings which resolved <24 weeks gestation) were found, with one case having an unknown outcome. 0.9% (n=1164) of all cases with a normal FTAS were diagnosed with a fetal anomaly in the second trimester. Test performance included a sensitivity of 84.6% (126/149) for first-trimester major congenital anomalies and 31.6% (537/1701) for all types of anomalies. Specificity for all anomalies was 99.2% (98 055/98 830); positive predictive value 40.9% (537/1 312); negative predictive value 98.8% (98 055/99 219); positive likelihood ratio 40.3; negative likelihood ratio 0.7; false positive rate 0.8% (775/98 830) and false negative rate 68.4% (1 164/1 701). The median time to diagnosis for structural anomalies was 20 days (6-43 days; median GA 16+3), for genetic anomalies 17 days (8.5-27.5 days; median GA 15+6 weeks) and for first-trimester major congenital anomalies 9 days (5-22 days; median GA 14+6 weeks). ConclusionsThe performance of a newly introduced nationwide FTAS in a low-risk population showed a high sensitivity for first-trimester major congenital anomalies and a lower sensitivity for all anomalies combined. The program was accompanied by a referral rate of 1.0%, of which 59.1% involved cases where anomalies were either not confirmed or resolved before 24 weeks gestation. Timing of diagnosis was around 16 weeks gestation for referred cases. To evaluate the balance between benefits and potential harm of the FTAS within a nationwide prenatal screening program, it is essential to assess the effectiveness of the program over time and to consider the perspectives of both women and their partners, as well as healthcare professionals.

The Impact of Maternal BMI on Time of Transvaginal Cervical Imaging

Introduction: Ultrasound is an integral part of obstetrical care and obesity has been shown to decrease the accuracy of ultrasound examination in high-risk pregnancy (Tsai et al, 2015). Obesity decreases the fidelity of ultrasound, as decreased visualization is seen with increasing depth of abdominal adipose tissue (Paladini, 2009). While maternal obesity has been shown to detrimentally impact anatomical ultrasound, the effects of obesity on the performance of transvaginal ultrasound are unclear. Our aim was to evaluate if obesity has an effect on the time required to obtain transvaginal cervical length. Methods: Retrospective chart review between January 2016-January 2022 identified patients with cervical shortening (&lt;2.5 cm) at the time of mid-trimester anatomical ultrasound scans. Scans were performed at the Maternal Fetal Medicine Department at Promedica Toledo Hospital between 16- and 24-weeks gestation. Patient BMI was recorded at the time of ultrasound and divided into obese (BMI ≥ 30 kg/m²) and non-obese (BMI ≤ 30 kg/m²) categories. Time to complete transvaginal ultrasound imaging was recorded in both patient populations and compared. Results: 216 patients met study criteria. Out of the 216, 89 (41%) were obese and 127 (59%) were non-obese. Average BMI of all participants was 29.2 ± 7.4 kg/m². Average time spent on ultrasound for patients with BMI &lt;30 was 13:36 ± 01:28 and for BMI &gt;30 15:34 ± 01:48 (p=0.46). There was no statistical difference between obese and non-obese patients and transvaginal scanning time &gt; 10 minutes (OR 1.24, 95% CI 0.719-2.13, p=0.44) Discussion: Our results suggest that the time to obtain cervical length measurements via transvaginal ultrasounds is similar between obese and non-obese patients. Time necessary to perform endovaginal ultrasonography of the cervix does not appear to be affected by maternal BMI. Since length of time necessary to complete transvaginal cervical length measurement does not appear to be affected by maternal BMI, our results suggest that additional scheduling time does not need to be allocated for obese patients. Other investigators have shown that early incorporation of transvaginal assessment of fetal anatomy in obese women improved the rate of survey completion and demonstrated earlier completion of the fetal anatomic evaluation (Toscano et al, 2021). This study encourages the further use of transvaginal ultrasound in obese, obstetrical patients.

Comparison of Short Cervical Lengths in Singleton and Twin Pregnancies

Introduction: Multifetal gestations are six times more likely to give birth preterm and 13 times more likely to give birth before 32 weeks gestation than women with singleton gestation (Martin et al, 2014-2018). Abnormal cervical shortening measured with transvaginal ultrasonography has been associated with an increased risk of preterm birth (Iams et al, 1996). In singleton pregnancies, midtrimester cervical length of less than 2.5 cm measured between 16-24 weeks has been associated with an increased risk of preterm birth in a variety of screened populations (Crane, JM., Hutchens, D., 2008). In twin pregnancies, a shortened cervix in the second trimester is more common than in singleton pregnancies and can be a predictor of early preterm birth (Yang et al, 2000). Current guidelines from ACOG, state that the data is insufficient to recommend for or against routine endovaginal ultrasound screening of cervical length in twin pregnancy. Our aim was to determine if twin gestations have shorter cervical lengths than singletons at the time of midtrimester anatomy scan, and to investigate the correlation of cervical length with the likelihood of spontaneous preterm birth. Methods: Retrospective chart review between January 2016-January 2022 identified patients with cervical shortening (&lt;2.5 cm) at the time of mid-trimester anatomical ultrasound exam. Exams were performed at the Maternal Fetal Medicine Department at Promedica Toledo Hospital between 16 and 24 weeks’ gestation. Cervical lengths and delivery data were collected and analyzed. Results: 122 patients met inclusion criteria, with 95(78%) singleton pregnancies, and 27(22%) twin gestations. Singleton gestations had an average short cervical length of 1.8 ± 0.6cm, whereas twin gestations had an average short cervical length of 1.29 ± 0.55cm (p&lt;0.0001). Twin gestations were more likely than singleton gestations to have a very short cervical length &lt;1.5cm (OR=6.75, 95% CI 2.59-17.58, p =0.0001). Average gestational age of delivery for singleton gestations identified with a short cervix was 35w6d ± 4w4d, whereas the average age at delivery for twin gestations was 31w6d ± 5w6d (p=0.0002). Discussion: Our results are consistent with previous reports that cervical shortening is more common in twin pregnancies than singleton pregnancies. Our results suggest that twins are more likely to have a very short cervical length identified in between 16-24 weeks. In addition, twin gestations with abnormal cervical shortening deliver at earlier gestational ages in comparison to singleton gestations with abnormal cervical shortening. Obtaining transvaginal cervical lengths at 16-24 weeks gestation allows for earlier identification of shortened cervical length. Ongoing research may identify interventions which are consistently effective in preterm birth prevention in twin gestation.

The Transdiagnostic Connectome Project: a richly phenotyped open dataset for advancing the study of brain-behavior relationships in psychiatry.

An important aim in psychiatry is the establishment of valid and reliable associations linking profiles of brain functioning to clinically relevant symptoms and behaviors across patient populations. To advance progress in this area, we introduce an open dataset containing behavioral and neuroimaging data from 241 individuals aged 18 to 70, comprising 148 individuals meeting diagnostic criteria for a broad range of psychiatric illnesses and a healthy comparison group of 93 individuals. These data include high-resolution anatomical scans, multiple resting-state, and task-based functional MRI runs. Additionally, participants completed over 50 psychological and cognitive assessments. Here, we detail available behavioral data as well as raw and processed MRI derivatives. Associations between data processing and quality metrics, such as head motion, are reported. Processed data exhibit classic task activation effects and canonical functional network organization. Overall, we provide a comprehensive and analysis-ready transdiagnostic dataset, which we hope will accelerate the identification of illness-relevant features of brain functioning, enabling future discoveries in basic and clinical neuroscience.

IMG-19. CLINICAL UTILITY OF NON-FDG PET-MRI IN CHILDREN WITH CNS NEOPLASMS: A TERRITORY-WIDE STUDY FROM HONG KONG

Abstract INTRODUCTION Magnetic resonance imaging (MRI) is the gold-standard for neuroimaging, yet details from anatomical scans might be inconclusive in certain scenarios. This study aimed to investigate the utility of amino-acid tracer positron emission tomography-magnetic resonance imaging (PET-MRI) based on a territory-wide Pediatric Neuro-Oncology cohort from Hong Kong. METHODS We reviewed the PET-MRI scans of pediatric patients with suspected/confirmed CNS neoplasms co-managed by Hong Kong Children’s Hospital and St. Teresa’s Hospital, Hong Kong from 5/2022-1/2024. Tracers used included C11-MET (n=10, before 5/2023) and F18-FET (n=15, in/after 5/2023). Lesion-to-normal SUVmax ratios (LNRmax) were measured with reference to adjacent or contralateral normal brain structures. RESULTS Twenty-five patients were included (M:F=13:12) with a median age of 10 years (range: 1-17). Anatomical sites of interest were the pituitary (n=13), basal ganglia (n=3), cerebellum (n=3), brainstem (n=2), frontal lobe (n=2), cerebellopontine angle (n=1), and spine (n=1). PET-MRI was performed as part of initial diagnostics in 21, to assess post-operative residual in 2, and for possible relapse in 2. Among those evaluated upfront (n=21), median SUVmax and LNRmax were 1.53 (range: 0.87-2.6) and 0.87 (range: 0.45-1.92) respectively in patients with presumed/confirmed low-grade glioneuronal (n=5) or non-oncologic lesions (n=8), versus 4.75 (range: 2.58-9.6) and 3.26 (range: 1.78-4.9) in patients with histologically/biochemically confirmed high-grade lesions (germinoma=6, high-grade glioma=2). Availability of functional PET imaging was deemed useful for scan interpretation in all 25 patients. Specifically, the use of PET-MRI facilitated decision for radiographic surveillance without biopsy/resection in 12 patients, refined tumor grading in 2 patients with discrepant clinical-histologic features, and allowed response-adapted therapy after serial scans in 5 patients. CONCLUSIONS Our study demonstrates the potential benefits of PET-MRI in the management of children with CNS pathologies. PET-MRI contributes to the diagnosis, monitoring, and treatment guidance of these patients, providing crucial information for clinical decision-making.

Role of artificial-intelligence-assisted automated cardiac biometrics in prenatal screening for coarctation of aorta.

Although remarkable strides have been made in fetal medicine and the prenatal diagnosis of congenital heart disease, around 60% of newborns with isolated coarctation of the aorta (CoA) are not identified prior to birth. The prenatal detection of CoA has been shown to have a notable impact on survival rates of affected infants. To this end, implementation of artificial intelligence (AI) in fetal ultrasound may represent a groundbreaking advance. We aimed to investigate whether the use of automated cardiac biometric measurements with AI during the 18-22-week anomaly scan would enhance the identification of fetuses that are at risk of developing CoA. We developed an AI model capable of identifying standard cardiac planes and conducting automated cardiac biometric measurements. Our data consisted of pregnancy ultrasound image and outcome data spanning from 2008 to 2018 and collected from four distinct regions in Denmark. Cases with a postnatal diagnosis of CoA were paired with healthy controls in a ratio of 1:100 and matched for gestational age within 2 days. Cardiac biometrics obtained from the four-chamber and three-vessel views were included in a logistic regression-based prediction model. To assess its predictive capabilities, we assessed sensitivity and specificity on receiver-operating-characteristics (ROC) curves. At the 18-22-week scan, the right ventricle (RV) area and length, left ventricle (LV) diameter and the ratios of RV/LV areas and main pulmonary artery/ascending aorta diameters showed significant differences, with Z-scores above 0.7, when comparing subjects with a postnatal diagnosis of CoA (n = 73) and healthy controls (n = 7300). Using logistic regression and backward feature selection, our prediction model had an area under the ROC curve of 0.96 and a specificity of 88.9% at a sensitivity of 90.4%. The integration of AI technology with automated cardiac biometric measurements obtained during the 18-22-week anomaly scan has the potential to enhance substantially the performance of screening for fetal CoA and subsequently the detection rate of CoA. Future research should clarify how AI technology can be used to aid in the screening and detection of congenital heart anomalies to improve neonatal outcomes. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Atypicality index as an add-on to combined first-trimester screening for chromosomal aberrations.

To compute a set of atypicality indices based on combined first-trimester screening (cFTS) markers and second-trimester estimated fetal weight (EFW), and to demonstrate their potential in identifying pregnancies at reduced or increased risk of chromosomal aberrations following a low-risk cFTS result. The atypicality index quantifies the unusualness of an individual set of measurements relative to a reference distribution and can be computed from any variables or measurements available. A score of 0% on the atypicality index represents the most typical profiles, while a score of 100% indicates the highest level of atypicality. From the Danish Fetal Medicine Database, we retrieved data on all pregnant women seen for cFTS in the Central Denmark Region between January 2008 and December 2018. All pregnancies with a cytogenetic or molecular analysis obtained prenatally, postnatally or following pregnancy loss or termination were identified. A first-trimester atypicality index (AcFTS) was computed based on nuchal translucency (NT) thickness, maternal serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A). Furthermore, a second-trimester index (AcFTS + EFW) was computed from cFTS markers and EFW from a routine second-trimester anomaly scan. All pregnancies were stratified into subgroups based on their atypicality levels and their cFTS risk estimates. The risk of chromosomal aberrations in each subgroup was then compared with the overall prevalence, and a graphical presentation of the multivariate measurement profiles was developed. We retrieved data on 145 955 singleton pregnancies, of which 9824 (6.7%) were genetically examined. Overall, 1 in 122 (0.82% (95% CI, 0.77-0.87%)) of all pregnancies seen for cFTS were affected by a fetal chromosomal aberration, and in screen-negative pregnancies (cFTS trisomy 21 risk < 1 in 100 and/or trisomy 18/13 risk < 1 in 50), 0.41% (95% CI, 0.38-0.44%) were affected. In screen-negative pregnancies with a typical first-trimester profile (AcFTS < 80%), the risk of chromosomal aberrations was significantly reduced (0.28%) compared with the overall risk. The risk of chromosomal aberrations increased with higher atypicality index to 0.49% (AcFTS [80-90%)), 1.52% (AcFTS [90-99%)) and 4.44% (AcFTS ≥ 99%) and was significantly increased in the two most atypical subgroups. The same applied for the second-trimester atypicality index, with risks of chromosomal aberrations of 0.76% and 4.16% in the two most atypical subgroups (AcFTS + EFW [90-99%) and AcFTS + EFW ≥ 99%, respectively). As an add-on to cFTS, the atypicality index identifies women with typical measurement profiles, which may provide reassurance, whereas atypical profiles may warrant specialist referral and further investigation. In pregnancies identified as low risk on cFTS but with a highly atypical distribution of NT, PAPP-A and β-hCG, the risk of a chromosomal aberration is substantially increased. The atypicality index optimizes the interpretation of pre-existing prenatal screening profiles and is not limited to cFTS markers or EFW. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

The relationship between the structural changes in the cervical spinal cord and sensorimotor function of children with thoracolumbar spinal cord injury (TLSCI)

Study designCross-sectional study.ObjectivesTo study the relationship between the structural changes in the cervical spinal cord (C2/3 level) and the sensorimotor function of children with traumatic thoracolumbar spinal cord injury (TLSCI) and to discover objective imaging biomarkers to evaluate its functional status.SettingXuanwu Hospital, Capital Medical University, China; Beijing Key Laboratory of Magnetic Resonance Imaging and Brain Informatics, China.Methods30 children (age range 5–13 years) with TLSCI and 11 typically developing (TD) children (age range 6–12 years) were recruited in this study. Based on whether there is preserved motor function below the neurological level of injury (NLI), the children with TLSCI are divided into the AIS A/B group (motor complete) and the AIS C/D group (motor incomplete). A Siemens Verio 3.0 T MR scanner was used to acquire 3D high-resolution anatomic scans covering the head and upper cervical spinal cord. Morphologic parameters of the spinal cord at the C2/3 level, including cross-sectional area (CSA), anterior-posterior width (APW), and left-right width (LRW) were obtained using the spinal cord toolbox (SCT; https://www.nitrc.org/projects/sct). Correlation analyses were performed to compare the morphologic spinal cord parameters and clinical scores determined by the International Standard for Neurological Classification of Spinal Cord Injuries (ISNCSCI) examination.ResultsCSA and LRW in the AIS A/B group were significantly lower than those in the TD group and the AIS C/D group. LRW was the most sensitive imaging biomarker to differentiate the AIS A/B group from the AIS C/D group. Both CSA and APW were positively correlated with ISNCSCI sensory scores.ConclusionsQuantitative measurement of the morphologic spinal cord parameters of the cervical spinal cord can be used as an objective imaging biomarker to evaluate the neurological function of children with TLSCI. Cervical spinal cord atrophy in children after TLSCI was correlated with clinical grading; CSA and APW can reflect sensory function. Meanwhile, LRW has the potential to be an objective imaging biomarker for evaluating motor function preservation.

Implementing ABCD studyⓇ MRI sequences for multi-site cohort studies: Practical guide to necessary steps, preprocessing methods, and challenges

Large multi-site studies that combine magnetic resonance imaging (MRI) data across research sites present exceptional opportunities to advance neuroscience research. However, scanner or site variability and non-standardised image acquisition protocols, data processing and analysis pipelines can adversely affect the reliability and repeatability of MRI derived brain measures. We implemented a standardised MRI protocol based on that used in the Adolescent Brain Cognition Development (ABCD)Ⓡ study in two sites, and across four MRI scanners.Twice repeated measurements of a single healthy volunteer were obtained in two sites and in four 3T MRI scanners (vendors: Siemens, Philips, and GE). Imaging data included anatomical scans (T1 weighted, T2 weighted), diffusion weighted imaging (DWI) and resting state functional MRI (rs-fMRI). Standardised containerized pipelines were utilised to pre-process the data and different image quality metrics and test-retest variability of different brain metrics were evaluated.The implementation of the MRI protocols was possible with minor adjustments in acquisition (e.g. repetition time (TR), higher b-values) and exporting (DICOM formats) of images due to different technical performance of the scanners. This study provides practical insights into the implementation of standardised sequences and data processing for multisite studies, showcase the benefits of containerised preprocessing tools, and highlights the need for careful optimisation of multisite image acquisition.

Heritability of cerebellar subregion volumes in adolescent and young adult twins.

Twin studies have found gross cerebellar volume to be highly heritable. However, whether fine-grained regional volumes within the cerebellum are similarly heritable is still being determined. Anatomical MRI scans from two independent datasets (QTIM: Queensland Twin IMaging, N = 798, mean age 22.1 years; QTAB: Queensland Twin Adolescent Brain, N = 396, mean age 11.3 years) were combined with an optimised and automated cerebellum parcellation algorithm to segment and measure 28 cerebellar regions. We show that the heritability of regional volumetric measures varies widely across the cerebellum ( 47%-91%). Additionally, the good to excellent test-retest reliability for a subsample of QTIM participants suggests that non-genetic variance in cerebellar volumes is due primarily to unique environmental influences rather than measurement error. We also show a consistent pattern of strong associations between the volumes of homologous left and right hemisphere regions. Associations were predominantly driven by genetic effects shared between lobules, with only sparse contributions from environmental effects. These findings are consistent with similar studies of the cerebrum and provide a first approximation of the upper bound of heritability detectable by genome-wide association studies.

Amniotic sac reference interval in early pregnancy between 7 and 10 weeks' gestation.

To establish a normal reference interval for amniotic sac measurements between 7 and 10 weeks of gestation and its relative size in relation to the gestational sac and the embryo. This was a prospective, cross-sectional study of consecutive women presenting to UCLH Early Pregnancy Unit between August 2022 to June 2023. We included live, normally sited, singleton pregnancies with a normal 20-week anomaly scan. We collected 120 cases per gestational week totaling 360 cases. We performed an inter and intra-observer variability assessment in the measurement of mean ASD in 30 patients. Regression analyses were used to establish reference intervals for GSD to CRL, ASD to CRL, GSD to ASD and GSD:ASD ratio to CRL. The fitted regression line was calculated, along with a 90% prediction interval and the R2 value. There was good interobserver agreement (difference 0.007mm ± 1.105 (95%CI -2.160 to 2.174)) and good intra-observer agreement between Observer A (0.007 ± 1.105 (-2.160 to 2.174)) and Observer B (-0.014 ± 0.919 (-1.814 to 1.786)) in the measurement of mean ASD in 30 patients. Regression analyses showed a highly statistically significant association between each pair of values (all p-values <0.001). There were significant quadratic associations between mean GSD and CRL (R2 = 56%) and mean GSD and ASD (R2 = 60), significant cubic association between ASD and CRL (R2 = 90%) and significant quadratic association between GSD to ASD ratio and CRL (R2 = 68%). The regression equations were used to quantify the values of ASD and GSD to ASD ratios for a range of CRL values and gestational age in days. Our study has produced comprehensive reference intervals for amniotic sac size in early pregnancy which could be used in routine clinical practice. This article is protected by copyright. All rights reserved.