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Enlargement of a kidney on prenatal imaging is usually due to hydronephrosis or cystic renal disease, and much less often results from solid tumors such as mesoblastic nephroma, Wilms’ tumor, nephroblastomatosis, renal sarcoma, and angiomyolipoma. All can be diagnosed by ultrasound. Magnetic resonance imaging is useful not only in confirming the presence of a renal mass, but also in the evaluation of the contralateral kidney for subtle abnormalities. We present one case each of Wilms’ tumor and mesoblastic nephroma, both detected on antenatal ultrasound and further studied with fetal magnetic resonance imaging. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: To evaluate the proximal effects of hypertensive disorders of pregnancy (HDP) on a validated measure of brain abnormalities in infants born at ≤32 weeks' gestational age (GA) using magnetic resonance imaging at term-equivalent age., Study Design: In a multisite prospective cohort study, 395 infants born at ≤32 weeks' GA, underwent 3T magnetic resonance imaging scan between 39 and 44 weeks' postmenstrual age. A single neuroradiologist, blinded to clinical history, evaluated the standardized Kidokoro global brain abnormality score as the primary outcome. We classified infants as HDP-exposed by maternal diagnosis of chronic hypertension, gestational hypertension, pre-eclampsia, or eclampsia. Linear regression analysis identified the independent effects of HDP on infant brain abnormalities, adjusting for histologic chorioamnionitis, maternal smoking, antenatal steroids, magnesium sulfate, and infant sex. Mediation analyses quantified the indirect effect of HDP mediated via impaired intrauterine growth and prematurity and remaining direct effects on brain abnormalities., Results: A total of 170/395 infants (43%) were HDP-exposed. Adjusted multivariable analyses revealed HDP-exposed infants had 27% (95% CI 5%-53%) higher brain abnormality scores than those without HDP exposure (P = .02), primarily driven by increased white matter injury/abnormality scores (P = .01). Mediation analyses showed HDP-induced impaired intrauterine growth significantly (P = .02) contributed to brain abnormality scores (22% of the total effect)., Conclusions: Maternal hypertension independently increased the risk for early brain injury and/or maturational delays in infants born at ≤32 weeks' GA with an indirect effect of 22% resulting from impaired intrauterine growth. Enhanced prevention/treatment of maternal hypertension may mitigate the risk of infant brain abnormalities and potential neurodevelopmental impairments., Competing Interests: Declaration of Competing Interest N.P. is supported by National Institutes of Health grants R01 EB029944-01 from the National Institute of Biomedical Imaging and Bioengineering (NIBIB), R01-NS094200 and R01-NS096037 from the National Institute of Neurological Disorders and Stroke (NINDS) M.D. is supported by grant K23-NS117734 from NINDS. The other authors declare no conflicts of interest., (Copyright © 2024. Published by Elsevier Inc.)

Objective: Magnetic resonance imaging (MRI) is the standard of care for evaluation of brain injury after hypoxic-ischemic encephalopathy (HIE) in term newborns. This study utilizes diffusion tensor imaging (DTI) to (1) identify infants at highest risk of development of cerebral palsy (CP) following HIE and to (2) identify regions of the brain critical to normal fidgety general movements (GMs) at 3 to 4 months of postterm. Absence of these normal, physiological movements is highly predictive of CP., Study Design: Term infants treated with hypothermia for HIE from January 2017 to December 2021 were consented for participation and had brain MRI with DTI after rewarming. The Prechtl's General Movements Assessment was performed at 12 to 16 weeks of age. Structural MRIs were reviewed for abnormalities, and DTI data were processed with the FMRIB Software Library. Infants underwent the Bayley Scales of Infant and Toddler Development III test at 24 months., Results: Forty-five infant families were consented; three infants died prior to MRI and were excluded, and a fourth infant was excluded due to diagnosis of a neuromuscular disorder. Twenty-one infants were excluded due to major movement artifact on diffusion images. Ultimately, 17 infants with normal fidgety GMs were compared with 3 infants with absent fidgety GMs with similar maternal and infant characteristics. Infants with absent fidgety GMs had decreased fractional anisotropy of several important white matter tracts, including the posterior limb of the internal capsule, optic radiations, and corpus callosum ( p  < 0.05). All three infants with absent fidgety GMs and two with normal GMs went on to be diagnosed with CP., Conclusion: This study identifies white matter tracts of the brain critical to development of normal fidgety GMs in infants at 3 to 4 months of postterm using advanced MRI techniques. These findings identify those at highest risk for CP among infants with moderate/severe HIE prior to hospital discharge., Key Points: · HIE has devastating impacts on families and infants.. · Diffusion MRI identifies infants at highest risk for developing neurodevelopmental impairment.. · Normal general movements of infancy are generated by key white matter tracts.., Competing Interests: None declared., (Thieme. All rights reserved.)

Objective: To compare brain magnetic resonance imaging (MRI) biomarkers and neurodevelopmental test scores in infants born preterm with and without prenatal opioid exposure (POE)., Study Design: We examined 395 preterm infants (≤32 weeks gestational age) who had term-equivalent brain MRIs, composite scores from the Bayley Scales of Infant and Toddler Development-III at 2 years corrected age, and POE data. MRI parameters included total/regional brain volumes and severe punctate white matter lesions (PWMLs). We conducted bivariable analysis and multivariable logistic regression analyses., Results: The mean ± SD gestational age was 29.3 ± 2.5 weeks; 35 (8.9%) had POE and 20 (5.1%) had severe PWML. Compared with unexposed infants, those with POE exhibited higher rates of severe PWML (17.1% vs 3.9%, respectively; P = .002); findings remained significant with an OR of 4.16 (95% CI, 1.26-13.68) after adjusting for confounders. On mediation analysis, the significant relationship between POE and severe PWML was not indirectly mediated through preterm birth/gestational age (OR, 0.93; 95% CI, 0.78-1.10), thus suggesting the association was largely driven by a direct adverse effect of POE on white matter. In multivariable analyses, POE was associated with a significantly lower score by -6.2 (95% CI, -11.8 to -0.6) points on the Bayley Scales of Infant and Toddler Development-III Motor subscale compared with unexposed infants., Conclusions: POE was associated with severe PWML; this outcome may be a direct effect of POE rather than being mediated by premature birth. POE was also associated with worse motor development. Continued follow-up to understand the long-term effects of POE is warranted., Competing Interests: Declaration of Competing Interest Funding: This work was supported in part by the National Institute of Environmental Health Sciences (NIH Grant Number R01 ES030743, R01 ES027815) and the National Institute of Neurological Disorders and Stroke (R01 NS094200,R01 NS096037). The funder/sponsor did not participate in the work. The authors declare no conflicts of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: Pulmonary hypoplasia is the primary cause of perinatal death in lethal skeletal dysplasias. The antenatal ultrasound correlates for lethality are indirect, measuring the thorax (thoracic circumference, TC) or femur compared to the abdomen (TC/AC, FL/AC). A single study has correlated lethality with the observed-to-expected total lung volume (O/E-TFLV) on fetal MRI in 23 patients., Objective: Our aim was to define a cutoff value to predict lethality more specifically using MRI-derived O/E-TFLV., Materials and Methods: Two large fetal center databases were searched for fetuses with skeletal dysplasia and MRI; O/E-TFLV was calculated. Ultrasound measures were included when available. Each was evaluated as a continuous variable against lethality (stillbirth or death in the first month of life). Logistic regression and receiver operating characteristic (ROC) curve analyses evaluated the prediction ability. AUC, sensitivity, and specificity were calculated. P < 0.05 was considered statistically significant., Results: A total of 80 fetuses met inclusion criteria. O/E-TFLV < 0.49 was a significant risk factor in predicting lethality, with sensitivity and specificity of 0.63 and 0.93, respectively, and an AUC of 0.81 (P < 0.001). FL/AC < 0.129 was also a strong variable with sensitivity, specificity, and AUC of 0.73, 0.88, and 0.78, respectively (P < 0.001). TC/AC and TC percentile were not significant risk factors for lethality. An O/E-TFLV of < 0.38 defines a specificity for lethality at 1.00., Conclusion: MRI-derived O/E-TFLV and US-derived FL/AC are significant predictors of lethality in fetuses with skeletal dysplasia. When prognosis is uncertain after ultrasound, calculation of MRI-derived O/E-TFLV may provide additional useful information for prognosis and delivery planning., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background and Purpose: The underlying mechanisms leading to altered cognitive, behavioral, and vision outcomes in children with prenatal opioid exposure are yet to be fully understood. Some studies suggest WM alterations in infants and children with prenatal opioid exposure; however, the time course of WM changes is unknown. We aimed to evaluate differences in diffusion tensor imaging MRI parameters in the brain between opioid exposed fetuses and normal controls., Materials and Methods: This is a pilot, prospective cohort study in which subjects in the third trimester of pregnancy underwent fetal DTI of the brain with 20 noncolinear diffusion directions and a b-value of 500 s/mm 2 at 2.5-mm isotropic resolution., Results: The study included a total of 26 fetuses, 11 opioid-exposed (mean gestational age, 32.61 [SD, 2.35] weeks) and 15 unexposed controls (mean gestational age, 31.77 [SD, 1.68] weeks). After we adjusted for gestational age, fractional anisotropy values were significantly higher in opioid-exposed fetuses relative to controls in 8 WM tracts: the bilateral lemniscus (left: P = .017; right: P = .020), middle cerebellar peduncle ( P = .027), left inferior cerebellar peduncle (P = .026), right sagittal stratum ( P = .040), right fornix stria terminalis ( P = .022), right inferior fronto-occipital fasciculus ( P = .011), and the right uncinate fasciculus ( P = .033). Significant alteration was also identified in other DTI indices involving a series of brain regions., Conclusions: Our data demonstrate initial evidence of cerebral WM microstructural differences between opioid-exposed fetuses and unexposed controls. Further studies in larger patient populations will be needed to fully understand these findings., (© 2023 by American Journal of Neuroradiology.)

Preterm brains commonly exhibit elevated signal intensity in the white matter on T2-weighted MRI at term-equivalent age. This signal, known as diffuse excessive high signal intensity (DEHSI) or diffuse white matter abnormality (DWMA) when quantitatively assessed, is associated with abnormal microstructure on diffusion tensor imaging. However, postmortem data are largely lacking and difficult to obtain, and the pathological significance of DEHSI remains in question. In a cohort of 202 infants born preterm at ≤32 weeks gestational age, we leveraged two newer diffusion MRI models - Constrained Spherical Deconvolution (CSD) and neurite orientation dispersion and density index (NODDI) - to better characterize the macro and microstructural properties of DWMA and inform the ongoing debate around the clinical significance of DWMA. With increasing DWMA volume, fiber density broadly decreased throughout the white matter and fiber cross-section decreased in the major sensorimotor tracts. Neurite orientation dispersion decreased in the centrum semiovale, corona radiata, and temporal lobe. These findings provide insight into DWMA's biological underpinnings and demonstrate that it is a serious pathology., (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)

Pediatric radiology is the only specialty in radiology that is near evenly distributed among genders. Yet the top leadership positions in the field are still mostly occupied by men. In this article we review some of the history of women in pediatric radiology and discuss how to improve women's participation in the highest positions of our subspecialty., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background and Purpose: The evaluation and characterization of germinal matrix hemorrhages have been predominantly described on postnatal head sonography in premature neonates. However, germinal matrix hemorrhages that are seen in premature neonates can be also seen in fetuses of the same postconceptual age and are now more frequently encountered in the era of fetal MR imaging. Our aim was to examine and describe the MR imaging findings of fetuses with intracranial hemorrhage., Materials and Methods: A retrospective review of diagnostic-quality fetal MRIs showing intracranial hemorrhage from January 2004 to May 2020 was performed. Images were reviewed by 2 radiologists, and imaging characteristics of fetal intracranial hemorrhages were documented. Corresponding postnatal imaging and clinical parameters were reviewed., Results: One hundred seventy-seven fetuses with a mean gestational age of 25.73 (SD, 5.01) weeks were included. Germinal matrix hemorrhage was identified in 60.5% (107/177) and nongerminal matrix hemorrhage in 39.5% (70/177) of patients. Significantly increased ventricular size correlated with higher germinal matrix hemorrhage grade ( P  < .001). Fetal growth restriction was present in 21.3% (20/94) of our population, and there was no significant correlation with germinal matrix grade or type of intracranial hemorrhage. An increased incidence of neonatal death with grade III germinal matrix hemorrhages ( P  = .069) compared with other grades was identified; 23.2% (16/69) of the neonates required ventriculoperitoneal shunts, with an increased incidence in the nongerminal matrix hemorrhage group ( P  = .026)., Conclusions: MR imaging has become a key tool in the diagnosis and characterization of intracranial hemorrhage in the fetus. Appropriate characterization is important for optimizing work-up, therapeutic approach, and prenatal counseling., (© 2021 by American Journal of Neuroradiology.)

Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging and follow-up (7 Dandy-Walker malformation, 26 vermian hypoplasia, and 7 Blake pouch cyst). Although all patients with Dandy-Walker malformation required ventriculoperitoneal shunts and 66% were intubated at birth, none required tracheostomy tube and 2 of 5 surviving children had no neurologic deficits. Vermian hypoplasia was strongly associated with genetic conditions and cardiac malformations; odds of not ambulating normally were 12 times greater if a syndrome or injury was present. Echocardiogram and genetic screening are recommended with vermian hypoplasia. There is a risk for epilepsy in both Dandy-Walker malformation and vermian hypoplasia. Blake pouch cyst can be complicated by hydrocephalus, but outcome is favorable.

Background and Purpose: Dandy-Walker malformation, vermian hypoplasia, and Blake pouch remnant represent a continuum of anomalies and are common reasons for referral for fetal MR imaging. This study aimed to determine biometric measurements that quantitatively delineate these 3 posterior fossa phenotypes., Materials and Methods: Our single-center institutional review board approved a retrospective analysis of all fetal MRIs for posterior fossa malformations, including Dandy-Walker malformation, vermian hypoplasia, and Blake pouch remnant. Measurements included the anterior-to-posterior pons, craniocaudal and anterior-to-posterior vermis, lateral ventricle size, and tegmentovermian and posterior fossa angles. Measurements were compared with normal biometry and also between each subgroup., Results: Thirty-three fetuses met the criteria and were included in the study. Seven were designated as having Dandy-Walker malformation; 16, vermian hypoplasia; and 10, Blake pouch remnant. No significant group interactions with adjusted mean gestational age for tegmentovermian and posterior fossa angles were observed. The tegmentovermian angle was significantly higher in Dandy-Walker malformation (109.5° [SD, 20.2°]) compared with vermian hypoplasia (52.13° [SD, 18.8°]) and Blake pouch remnant (32.1° [SD, 17.9°]), regardless of gestational age. Lateral ventricle sizes were significantly higher in Dandy-Walker malformation at a mean of ≥23.1 weeks' gestational age compared with vermian hypoplasia and Blake pouch remnant. The anterior-to-posterior and craniocaudal vermes were significantly smaller in Dandy-Walker malformation compared with vermian hypoplasia and Blake pouch remnant at mean of ≥23.1 weeks' gestational age., Conclusions: Dandy-Walker malformation can be described in relation to vermian hypoplasia and Blake pouch remnant by an increased tegmentovermian angle; however, other potential qualifying biometric measurements are more helpful at ≥23.1 weeks' gestational age. Because they fall along the same spectrum of abnormalities, the difficulty in distinguishing these entities from one another makes precise morphologic and biometric descriptions important., (© 2021 by American Journal of Neuroradiology.)

Objective: To evaluate the prevalence and associations between structural magnetic resonance imaging (sMRI) injury/abnormality at term-equivalent age and absent fidgety General Movements Assessment (GMA) and abnormal Hammersmith Infant Neurological Examination (HINE) scores among infants born very preterm at 3-4 months of corrected age., Study Design: This prospective cohort study enrolled 392 infants born ≤2 weeks of gestation from 5 neonatal intensive care units in the greater Cincinnati area between September 2016 and October 2019. Infants completed sMRI at term-equivalent age and GMA and HINE at 3-4 months of corrected age. All assessors were blinded., Results: Of 392 infants, 375 (96%) had complete data. Of these, 44 (12%) exhibited moderate or severe brain abnormalities, 17 (4.5%) had abnormal GMA, and 77 (20.3%) had abnormal HINE. Global and regional abnormality scores on sMRI were significantly correlated with GMA (R 2 range 0.05-0.17) and HINE at 3-4 months of corrected age (R 2 range 0.01-0.17). These associations remained significant in multivariable analyses after adjusting for gestational age and sex. There was a significant but low correlation (R 2 0.14) between GMA and HINE., Conclusions: We observed a low prevalence of moderate or severe brain abnormalities in survivors born very preterm in this geographically defined cohort. The much greater prevalence of abnormal motor examination on the HINE compared with GMA and their low correlation suggests that these tests evaluate different constructs and, thus, should be used in combination with sMRI rather than interchangeably., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Introduction: MRI and MR spectroscopy (MRS) provide early biomarkers of brain injury and treatment response in neonates with hypoxic-ischaemic encephalopathy). Still, there are challenges to incorporating neuroimaging biomarkers into multisite randomised controlled trials. In this paper, we provide the rationale for incorporating MRI and MRS biomarkers into the multisite, phase III high-dose erythropoietin for asphyxia and encephalopathy (HEAL) Trial, the MRI/S protocol and describe the strategies used for harmonisation across multiple MRI platforms., Methods and Analysis: Neonates with moderate or severe encephalopathy enrolled in the multisite HEAL trial undergo MRI and MRS between 96 and 144 hours of age using standardised neuroimaging protocols. MRI and MRS data are processed centrally and used to determine a brain injury score and quantitative measures of lactate and n-acetylaspartate. Harmonisation is achieved through standardisation-thereby reducing intrasite and intersite variance, real-time quality assurance monitoring and phantom scans., Ethics and Dissemination: IRB approval was obtained at each participating site and written consent obtained from parents prior to participation in HEAL. Additional oversight is provided by an National Institutes of Health-appointed data safety monitoring board and medical monitor., Trial Registration Number: NCT02811263; Pre-result., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Holoprosencephaly is the most common malformation of forebrain development and includes a wide spectrum of severity. The objective of this retrospective study was to evaluate fetal magnetic resonance imaging (MRI) associations with outcome. Of the 63 cases identified on antenatal ultrasonography, 28 cases were confirmed on fetal MRI. There were 17 live births; 9 patients died within the first month of life. There were 7 survivors. The vast majority were nonambulatory and required feeding support; none required respiratory support. We found that presence and number of non-holoprosencephaly-associated malformations was also associated with survival. Of 5 patients with 3 or more systemic anomalies, 4 died regardless of holoprosencephaly subtype and 1 was lost to follow-up. Patients with suspected holoprosencephaly on ultrasonography should have full body fetal MRI and echocardiogram to better evaluate systemic anomalies. Counseling should involve pediatric palliative care services to prepare families in caring for babies with limited life span.

Previous studies have not found structural injury or brain malformations in infants and children with prenatal opioid exposure. As part of an ongoing study evaluating neuroimaging in infants with prenatal opioid exposure, we reviewed structural brain MR imaging in 20 term infants with prenatal opioid exposure and 20 term controls at 4-8 weeks of age. We found that 8 of the 20 opioid-exposed infants had punctate white matter lesions or white matter signal abnormality on structural MR imaging, and 2 of the opioid-exposed infants had a septopreoptic fusion anomaly. No controls had white matter injury or structural malformations. Our findings underscore the importance of clinical neurodevelopmental follow-up and the need for more comprehensive imaging and long-term outcomes research following prenatal opioid exposure., (© 2019 by American Journal of Neuroradiology.)

Fetal Magnetic Resonance Imaging (MRI) is increasingly used in prenatal evaluations., Objective: Identify common brain malformations on fetal MRI and evaluate perinatal course., Methods: Fetal consultations from 10/2016 to 12/2017 reviewed., Results: Hundred consultations were requested; 94 were completed. Findings included: posterior fossa malformations (19%), agenesis/dysgenesis of corpus callosum (15%), congenital aqueductal stenosis (CAS) (14%), ventriculomegaly (11%), isolated cortical malformations (8.5%), and holoprosencephaly (6%). Posterior fossa malformations were more likely to be associated with genetic conditions and cardiac malformations. Patients with CAS all required intensive care unit admission. Overall, few patients with congenital brain malformations required feeding or respiratory support at discharge. None had seizures as neonates except two with early epileptic encephalopathy syndromes., Conclusions: Even though long term neurological prognosis is poor for many conditions including high lifetime risk of epilepsy, most are discharged with no feeding or respiratory support. Seizures are rarely seen in the neonatal period.

Kv7.2 subunits encoded by the KCNQ2 gene provide a major contribution to the M-current (I KM ), a voltage-gated K + current crucially involved in the regulation of neuronal excitability. Heterozygous missense variants in Kv7.2 are responsible for epileptic diseases characterized by highly heterogeneous genetic transmission and clinical severity, ranging from autosomal-dominant Benign Familial Neonatal Seizures (BFNS) to sporadic cases of severe epileptic and developmental encephalopathy (DEE). Here, we describe a patient with neonatal onset DEE, carrying a previously undescribed heterozygous KCNQ2 c.418G > C, p.Glu140Gln (E140Q) variant. Patch-clamp recordings in CHO cells expressing the E140Q mutation reveal dramatic loss of function (LoF) effects. Multistate structural modelling suggested that the E140Q substitution impeded an intrasubunit electrostatic interaction occurring between the E140 side chain in S 2 and the arginine at position 210 in S 4 (R210); this interaction is critically involved in stabilizing the activated configuration of the voltage-sensing domain (VSD) of Kv7.2. Functional results from coupled charge reversal or disulfide trapping experiments supported such a hypothesis. Finally, retigabine restored mutation-induced functional changes, reinforcing the rationale for the clinical use of Kv7 activators as personalized therapy for DEE-affected patients carrying Kv7.2 LoF mutations.

Background and Purpose: Fetal MRI has become a valuable tool in the evaluation of open spinal dysraphisms making studies comparing prenatal and postnatal MRI findings increasingly important. Our aim was to determine the accuracy of predicting the level of the spinal dysraphic defect of open spinal dysraphisms on fetal MR imaging and to report additional findings observed when comparing fetal and postnatal MR imaging of the spine in this population., Materials and Methods: A single-center retrospective analysis was performed of fetal MRIs with open spinal dysraphisms from 2004 through 2016 with available diagnostic postnatal spine MR imaging. Images were reviewed by 2 board-certified fellowship-trained pediatric neuroradiologists. Corresponding clinical/operative reports were reviewed., Results: One hundred nineteen fetal MRIs of open spinal dysraphisms were included. The level of the osseous defect between fetal and postnatal MR imaging was concordant in 42.9% (51/119) of cases and was 1 level different in 39% (47/119) of cases. On postnatal MR imaging, type II split cord malformation was seen in 8.4% (10/119) of cases, with only 50% (5/10) of these cases identified prospectively on fetal MR imaging. Syrinx was noted in 3% (4/119) of prenatal studies, all cervical, all confirmed on postnatal MR imaging., Conclusions: Fetal MR imaging is accurate in detecting the level of the spinal dysraphic defect, which has an impact on prenatal counseling, neurologic outcomes, and eligibility for fetal surgery. In addition, fetal MR imaging is limited in its ability to detect split cord malformations in patients with open spinal dysraphisms. Although rare, fetal MR imaging has a high specificity for detection of cervical spinal cord syrinx., (© 2018 by American Journal of Neuroradiology.)

Background and Purpose: Approximately 60% of infants with congenital diaphragmatic hernia have evidence of brain injury on postnatal MR imaging. It is unclear whether any brain injury is present before birth. In this study, we evaluated fetal MR imaging findings of brain injury and the association of congenital diaphragmatic hernia severity with postnatal brain injury., Materials and Methods: Fetal MR imaging and postnatal brain MR imaging were retrospectively evaluated in 36 cases of congenital diaphragmatic hernia (from 2009 to 2014) by 2 pediatric neuroradiologists. Brain injury on postnatal MR imaging and brain injury and congenital diaphragmatic hernia severity on fetal MR imaging were recorded. Correlations between brain abnormalities on fetal and postnatal brain MR imaging were analyzed. Postnatal brain injury findings correlating with the severity of congenital diaphragmatic hernia were also assessed., Results: On fetal MR imaging, enlarged extra-axial spaces (61%), venous sinus distention (21%), and ventriculomegaly (6%) were identified. No maturational delay, intracranial hemorrhage, or brain parenchymal injury was identified on fetal MR imaging. On postnatal MR imaging, 67% of infants had evidence of abnormality, commonly, enlarged extra-axial spaces (44%). Right-sided congenital diaphragmatic hernia was associated with a greater postnatal brain injury score ( P = .05). Low observed-to-expected lung volume was associated with postnatal white matter injury ( P = .005) and a greater postnatal brain injury score ( P = .008). Lack of liver herniation was associated with normal postnatal brain MR imaging findings ( P = .03)., Conclusions: Fetal lung hypoplasia is associated with postnatal brain injury in congenital diaphragmatic hernia, suggesting that the severity of lung disease and associated treatments affect brain health as well. We found no evidence of prenatal brain parenchymal injury or maturational delay., (© 2018 by American Journal of Neuroradiology.)

Primary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and sex and results in moderate to severe mental deficiencies and decreased lifespan. We recently studied two children with primary microcephaly in an otherwise unaffected family. Exome sequencing identified an autosomal recessive mutation leading to an amino acid substitution in a WD40 domain of the highly conserved Coatomer Protein Complex, Subunit Beta 2 (COPB2). To study the role of Copb2 in neural development, we utilized genome-editing technology to generate an allelic series in the mouse. Two independent null alleles revealed that Copb2 is essential for early stages of embryogenesis. Mice homozygous for the patient variant (Copb2R254C/R254C) appear to have a grossly normal phenotype, likely due to differences in corticogenesis between the two species. Strikingly, mice heterozygous for the patient mutation and a null allele (Copb2R254C/Zfn) show a severe perinatal phenotype including low neonatal weight, significantly increased apoptosis in the brain, and death within the first week of life. Immunostaining of the Copb2R254C/Zfnbrain revealed a reduction in layer V (CTIP2+) neurons, while the overall cell density of the cortex is unchanged. Moreover, neurospheres derived from animals with Copb2 variants grew less than control. These results identify a general requirement for COPB2 in embryogenesis and a specific role in corticogenesis. We further demonstrate the utility of CRISPR-Cas9 generated mouse models in the study of potential pathogenicity of variants of potential clinical interest., (© The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Background and Purpose: As the practice of in utero repair of myelomeningoceles becomes more prevalent, knowledge of the expected MR imaging findings has become increasingly important. Our aim was to examine neuroimaging findings with a focus on hindbrain herniation and ventricular size in fetuses with open spinal dysraphism and to compare them with postnatal imaging features in groups undergoing prenatal-versus-postnatal repair., Materials and Methods: Single-center retrospective analysis was performed on MRIs of fetuses with open spinal dysraphism from January 2004 through July 2015 with available postnatal imaging. One hundred two fetuses were included. Reports from available fetal ultrasound were also examined. Images were reviewed by 2 board-certified fellowship-trained pediatric neuroradiologists. Descriptive analyses were performed to demonstrate the distribution of the imaging findings., Results: Thirty-two of 102 (31.3%) fetuses underwent in utero repair of open spinal dysraphism; 68.6% (70/102) underwent postnatal repair. Ninety-four of 102 (92.2%) fetuses had cerebellar ectopia. Of those who underwent prenatal repair (26 grade 3, 6 grade 2), 81.3% (26/32) had resolved cerebellar ectopia postnatally. Of those who had severe cerebellar ectopia (grade 3) that underwent postnatal repair, 65.5% (36/55) remained grade 3, while the remaining 34.5% (19/55) improved to grade 2. The degree of postnatal lateral ventriculomegaly in those that underwent prenatal repair (20.3 ± 5.6 mm) was not significantly different from that in those that underwent postnatal repair (21.5 ± 10.2 mm, P = .53). Increased Chiari grade was significantly correlated with decreased head size for gestational age on fetal sonography ( P = .0054)., Conclusions: In fetuses with open spinal dysraphism and severe Chiari II malformation that do not undergo prenatal repair, most have no change in the severity of cerebellar ectopia/Chiari grade. However, in fetuses that undergo in utero repair, most have resolved cerebellar ectopia postnatally., (© 2017 by American Journal of Neuroradiology.)

Objective: To assess whether computed tomography (CT), magnetic resonance imaging (MRI), and neurosurgical evaluations altered the diagnosis or management of children diagnosed with benign macrocrania of infancy by ultrasonography (US)., Study Design: We queried our radiology database to identify patients diagnosed with benign macrocrania of infancy by US between 2006 and 2013. Medical records of those with follow-up CT/MRI were reviewed to determine clinical/neurologic status and whether or not CT/MRI imaging resulted in diagnosis of communicating hydrocephalus or required neurosurgical intervention., Results: Patients with benign macrocrania of infancy (n = 466) were identified (mean age at diagnosis: 6.5 months). Eighty-four patients (18.0%) received subsequent head CT/MRI; of these, 10 patients had neurologic abnormalities before 2 years of age, of which 3 had significant findings on MRI (temporal lobe white matter changes, dysmorphic ventricles, thinned corpus callosum). One patient without neurologic abnormalities had nonspecific white matter signal abnormality (stable over 6 months) but no change in management. None required neurosurgical intervention. Another 9/84 patients had incidental findings including Chiari I (3), small subdural bleeds (2), arachnoid cyst (1), small cavernous malformation (1), frontal bone dermoid (1), and a linear parietal bone fracture after a fall (1)., Conclusions: Children diagnosed with benign macrocrania of infancy on US without focal neurologic findings do not require subsequent brain CT/MRI or neurosurgical evaluation. Decreasing unnecessary imaging would decrease costs, minimize radiation and sedation exposures, and increase clinic availability of neurology and neurosurgery specialists., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background and Purpose: Infants with congenital diaphragmatic hernia are reported to have evidence of brain MR imaging abnormalities. Our study aimed to identify perinatal clinical factors in infants with congenital diaphragmatic hernia that are associated with evidence of brain injury on MR imaging performed before hospital discharge., Materials and Methods: MRIs performed before hospital discharge in infants with congenital diaphragmatic hernia were scored for brain injury by 2 pediatric neuroradiologists. Perinatal variables and clinical variables from the neonatal intensive care unit stay were analyzed for potential associations with brain MR imaging findings., Results: Fifty-three infants with congenital diaphragmatic hernia (31 boys) were included. At least 1 abnormality was seen on MR imaging in 32 infants (60%). The most common MR imaging findings were enlarged extra-axial spaces (36%), intraventricular hemorrhage (23%), ventriculomegaly (19%), white matter injury (17%), and cerebellar hemorrhage (17%). The MR imaging brain injury score was associated with extracorporeal membrane oxygenation (P = .0001), lack of oral feeding at discharge (P = .012), use of inotropes (P = .027), and gastrostomy tube placement before hospital discharge (P = .024). The MR imaging brain injury score was also associated with a large diaphragmatic defect size (P = .011)., Conclusions: Most infants with congenital diaphragmatic hernia have at least 1 abnormality identified on MR imaging of the brain performed before discharge. The main predictors of brain injury in this population are a requirement for extracorporeal membrane oxygenation, large diaphragmatic defect size, and lack of oral feeding at discharge., (© 2016 by American Journal of Neuroradiology.)

Background and Purpose: Subependymal grey matter heterotopias are seen in a high proportion of children with Chiari II malformation and are potentially clinically relevant. However, despite its growing use, there is little in the literature describing its detection on fetal MRI. Our aim was to evaluate the accuracy in diagnosing subependymal gray matter heterotopias in fetuses with spinal dysraphism on fetal MR imaging., Materials and Methods: This study is a retrospective analysis of 203 fetal MRIs performed at a single institution for spinal dysraphism during a 10-year period. Corresponding obstetric sonography, postnatal imaging, and clinical/operative reports were reviewed., Results: Of the fetal MRIs reviewed, 95 fetuses were included in our analysis; 23.2% (22/95) were suspected of having subependymal gray matter heterotopias on fetal MR imaging prospectively. However, only 50% (11/22) of these cases were confirmed on postnatal brain MR imaging. On postnatal brain MR imaging, 28.4% (27/95) demonstrated imaging findings consistent with subependymal gray matter heterotopia. Only 40.7% (11/27) of these cases were prospectively diagnosed on fetal MR imaging., Conclusions: Fetal MR imaging is limited in its ability to identify subependymal gray matter heterotopias in fetuses with spinal dysraphism. It is believed that this limitation relates to a combination of factors, including artifacts from fetal motion, the very small size of fetal neuroanatomy, differences in imaging techniques, and, possibly, irregularity related to denudation of the ependyma/subependyma in the presence of spinal dysraphism and/or stretching of the germinal matrix in ventriculomegaly., (© 2016 by American Journal of Neuroradiology.)

Pleuropulmonary blastoma is an extremely rare lung neoplasm exclusive to children under 5 years of age. It presents a diagnostic challenge both prenatally and in early childhood due to its similarity to benign lung cysts, which are managed differently. We present the first case, to our knowledge, of a neonate with pleuropulmonary blastoma and myelomeningocele, though prenatally diagnosed as a congenital pulmonary airway malformation. We detail the prenatal imaging that facilitated counseling and delivery management in addition to the correlating postnatal imaging., (© 2015 S. Karger AG, Basel.)

Objective: The aim of this research was to compare the impact of varying degrees of visceral herniation on the growth rates of the contralateral and ipsilateral fetal lungs in cases of isolated left-sided congenital diaphragmatic hernia (CDH)., Methods: Data were retrieved from 58 fetuses with isolated left-sided CDH undergoing magnetic resonance imaging studies at both mid-gestation (20-30 weeks) and late-gestation (>30 weeks) time points. The growth of the right and left lungs (ΔLV-R and ΔLV-L) was calculated. The impact of the degree of visceral herniation on the growth disparity between the right and left lungs was then compared., Results: Measurable growth occurred in both lungs between the mid-gestation and late-gestation time points in each group. The ΔLV-R exhibited a strong correlation with ΔLV-L. However, the right lung grew significantly faster than the left lung (ΔLV-R = 1.36 vs ΔLV-L = 0.17 mL/week, P < 0.001). A higher degree of visceral herniation appeared to decrease the growth rate disparity by progressive limitation of the growth of the right lung., Conclusion: The contralateral lung retains the potential to grow faster than the ipsilateral lung during the third trimester. A higher degree of visceral herniation places progressive limitations on contralateral lung growth thereby diminishing the growth rate disparity between the right and left lungs., (© 2015 John Wiley & Sons, Ltd.)

Magnetic resonance imaging (MRI) evaluation of the developing brain has dramatically increased over the last decade. Faster acquisitions and the development of advanced MRI sequences, such as magnetic resonance spectroscopy (MRS), diffusion tensor imaging (DTI), perfusion imaging, functional MR imaging (fMRI), and susceptibility-weighted imaging (SWI), as well as the use of higher magnetic field strengths has made MRI an invaluable tool for detailed evaluation of the developing brain. This article will provide an overview of the use and challenges associated with 1.5-T and 3-T static magnetic fields for evaluation of the developing brain. This review will also summarize the advantages, clinical challenges, and safety concerns specifically related to MRI in the fetus and newborn, including the implications of increased magnetic field strength, logistics related to transporting and monitoring of neonates during scanning, and sedation considerations, and a discussion of current technologies such as MRI conditional neonatal incubators and dedicated small-foot print neonatal intensive care unit (NICU) scanners., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Objective: The aim of this study was to determine whether fetal lung volume and visceral herniation are associated with changes in intrathoracic space in congenital diaphragmatic hernia(CDH)., Methods: We retrospectively examined the relationship between magnetic resonance imaging-derived measurements of intrathoracic space [predicted lung volume (PLV)] and residual lung volume or visceral herniation among isolated left-sided CDH fetuses., Results: Data from fetal magnetic resonance imaging studies of 60 isolated left-sided CDH cases were analyzed. The median PLV of the CDH fetuses was found to be much greater than the expected total lung volume (eTLV) of a normal fetus at the same gestational age. Surprisingly, liver herniation and observed TLV(oTLV) were positively correlated with the PLV. Although the PPLV was consistently less than the o/eTLV, both indices were greater in survivors than in non-survivors, whereas no significant difference was seen in the PLV/eTLV ratio in regard to survivorship., Conclusion: The intrathoracic domain available for lungs and viscera is expanded in CDH fetuses and positively affected by the lung volume and the presence of liver herniation, leading to the difference in the PPLV and o/eTLV. Future study of intrathoracic space as it relates to the growth of the lung and herniated viscera is needed to better characterize the relationship between these parameters., (© 2014 John Wiley & Sons, Ltd.)

Objective: The aim of this study was to evaluate fetal lung growth rate for isolated left-sided congenital diaphragmatic hernia (CDH) using serial magnetic resonance imaging (MRI)-based volumetric measures., Methods: Early and late gestational (22-30 and >30 weeks' gestation) lung volumetry was obtained by fetal MRI in 47 cases of isolated left-sided CDH. At both of these time points, lung volume indices, including total lung volume (TLV), observed to expected TLV (o/e TLV), and percentage of predicted lung volume (PPLV) as well as their change rates (Δ) and relative Δ during gestation were calculated and analyzed in regard to their capacity to predict neonatal survival., Results: TLV, o/e TLV, and PPLV had various changes during gestation. Late TLV, early and late o/e TLV, and late PPLV were predictive of neonatal survival. Non-survivors had lower ΔTLV and more negative relative ΔPPLV than survivors (1.18 vs 1.85 mL/week, P = 0.004 and -4.15%/week vs -1.95%/week, P = 0.002, respectively)., Conclusions: The severity of pulmonary hypoplasia is dynamic and can worsen in the third trimester. MRI lung volumetry repeated in late gestation can provide additional information on individual lung growth that may facilitate prenatal counseling and focus perinatal management., (© 2014 John Wiley & Sons, Ltd.)

Objective: Pulmonary hypoplasia is a major cause of death in lethal skeletal dysplasias. We hypothesize that in fetuses with prenatally diagnosed skeletal dysplasia, comparison of observed-to-expected (O/E) lung volume will help predict lethality., Study Design: We conducted a retrospective chart review of patients referred for evaluation of suspected fetal skeletal anomalies. Twenty-three pregnancies were identified with confirmed fetal diagnosis of skeletal dysplasia for which fetal magnetic resonance imaging (MRI) was performed between 21 and 38 weeks of gestation and ultrasound biometry data were available. Femur length to abdominal circumference ratio (FL/AC) and O/E lung volumes were calculated. The association between O/E lung volume, FL/AC, and lethality was measured using logistic regression., Results: Lethality was significantly associated with O/E lung volume (p = 0.002) and FL/AC (p = 0.0476). Analysis with receiver-operating characteristic curves suggested that O/E lung volume of 47.9% or FL/AC of 0.124 could be useful clinical cutoffs in the prediction of lethality., Conclusion: In fetuses with skeletal dysplasia, fetal MRI-derived O/E lung volume was predictive of lethality. When evaluating a fetal skeletal dysplasia, fetal MRI may be considered in cases for which ultrasound-based lethality prediction is ambiguous or uncertain in order to provide families with the most complete and accurate information., (© 2014 John Wiley & Sons, Ltd.)

Background: Congenital lung lesions refer to a spectrum of malformations and developmental abnormalities of the foregut, pulmonary airways and vasculature. These lesions range from small, asymptomatic to large space-occupying masses that can increase risk of fetal death and respiratory compromise after birth. Prenatal sonography has been used for routine screening in pregnancy. The advent of prenatal magnetic resonance imaging leads to complementary use in the diagnosis of fetal anomalies, including in fetuses with congenital lung lesions., Objective: To determine whether fetal MRI can differentiate congenital lung lesions by comparing prenatal diagnosis with postnatal imaging and pathology., Materials and Methods: In a 4-year period, 76 fetuses with suspected lung lesions were referred for fetal MRI. We retrospectively reviewed the MR exams and assigned a specific diagnosis based on predetermined criteria. We then compared the prenatal diagnosis to postnatal imaging and pathology., Results: Of 76 cases, 7 were excluded because of an alternative diagnosis. Of the 69 remaining patients, 3 died and 13 were lost to follow-up. Among the 53 patients, there were 56 lung lesions. Four of these lesions were difficult to diagnose because of size and location. Based on imaging records we gave the remaining 52 lesions a specific prenatal diagnosis: 28 congenital pulmonary airway malformations (CPAM), 4 bronchopulmonary sequestrations (BPS), 9 cases of overinflation, 9 hybrid lesions and 2 bronchogenic cysts. The prenatal diagnosis was concordant with postnatal evaluation in 51 of the 52 lung lesions. One fetus given the diagnosis of CPAM prenatally was diagnosed with a hybrid lesion postnatally., Conclusion: Prenatal MRI is highly accurate in defining congenital lung anomalies. When fetal MRI findings suggest a specific diagnosis, postnatal findings confirmed the prenatal MRI diagnosis in 98% of cases.

Objective: To determine whether total fetal lung volumes estimated by MRI could predict lethal pulmonary hypoplasia in a cohort of fetuses with cervical teratomas., Methods: We performed a retrospective cohort study of fetal cervical teratomas from January 1, 2005, through April 1, 2012. The primary outcome was the ability of total lung volumes measured by MRI to predict neonatal mortality specifically due to pulmonary hypoplasia. Measured lung volumes were compared to previously reported normal values. The percent of observed-to-expected lung volume and the percent predicted lung volume were calculated. The positive and negative predictive values were calculated for each variable., Results: Fetal MRI-derived total lung volumes 1 standard deviation below the median for gestational age had a positive predictive value of 100% in predicting lethal pulmonary hypoplasia. Conversely, total lung volumes above this level were uniformly associated with pulmonary survival (100% negative predictive value). Additionally, percent predicted lung volume ≤75.7 and observed-to-expected lung volume ≤68.3 were associated with lethal pulmonary hypoplasia., Conclusion: In this small cohort, MRI-estimated lung volumes were helpful in predicting the presence of pulmonary hypoplasia complicating fetal cervical teratoma., (Copyright © 2013 S. Karger AG, Basel.)

Background: Tethered cord syndrome (TCS) is defined by abnormal traction on the spinal cord that confines its movement. Surgical cord release usually stops neurological deterioration; therefore, early and accurate neuroradiological diagnosis is important. Supine MRI is the imaging modality of choice, but prone MRI and cine MRI can demonstrate cord movement., Objective: We compared the diagnostic accuracies of standard MRI, prone MRI and cine MRI in patients with clinical suspicion of TCS and evaluated inter-reader reliability for MR imaging., Materials and Methods: Children who underwent MRI for suspicion of TCS were retrospectively identified. Supine, prone and cine MRI studies were re-read by two pediatric neuroradiologists. Conus level, filum appearance and cord movement were documented., Results: Thirteen of 49 children had tethered cord documented at surgery. Conus level had the highest diagnostic accuracy (sensitivity 69-77%, specificity 94%, positive predictive value 82-83%, negative predictive value 89-92%, correct diagnosis 88-90%) and highest between-reader concordance (98%). Prone and cine MRI did not add to the accuracy of the supine imaging., Conclusion: Conus level provides the highest diagnostic accuracy and inter-reader reliability in TCS. Until a larger series is evaluated, it remains questionable whether prone or cine MRI provides enough additional diagnostic information to warrant routine use.

Purpose: Magnetic resonance imaging (MRI) has been used as an imaging modality to assess pulmonary hypoplasia in congenital diaphragmatic hernias (CDHs). The objective of this study was to determine if there is a correlation between late gestational fetal MRI-derived total lung volumes (TLVs) and CDH outcomes., Methods: From 2006 to 2009, 44 patients met criteria of an isolated CDH with a late gestational MRI evaluation. The prenatal TLV (in milliliters) was obtained between 32 and 34 weeks gestation. The measured study outcomes included survival, need for extracorporeal membrane oxygenation (ECMO), and length of stay., Results: There were 39 left and 5 right CDH patients. The average TLV was significantly lower for nonsurvivors (P = .01), and there was a significant association between lower TLV and the need for ECMO (P = .0001). When stratified by TLV, patients with a TLV of greater than 40 mL had a 90% survival vs 35% survival for a TLV of less than 20 mL. Furthermore, patients with a TLV greater than 40 mL had a lower rate of ECMO use (10%) than patients with a TLV of less than 20 mL (86%). Shorter length of stay was found to correlate with increasing TLV (P = .022)., Conclusion: Late gestation fetal MRI-derived TLV significantly correlates with postnatal survival and need for ECMO. Fetal MRI may be useful for the evaluation of patients who present late in gestation with a CDH., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Purpose: This study aim to assess the potential of prenatal predictors of postnatal severe pulmonary artery hypertension (PAH) in isolated left congenital diaphragmatic hernia (CDH) and to define a new prenatal pulmonary hypertension index (PPHI)., Methods: A retrospective chart review of CDH patients between May 2005 and October 2008 was conducted. Ten patients with systemic/suprasystemic and 9 patients with subsystemic pulmonary hypertension at 3 weeks of age were identified. Diameters of the right pulmonary artery, left pulmonary artery (LPA(d)), aorta, and the length of vermis of the cerebellum were obtained from prenatal magnetic resonance imaging to calculate the PPHI [=(LPA(d)/length of vermis of the cerebellum) x 10] and the modified McGoon index (MGI) [=(diameter of the right pulmonary artery + LPA(d))/diameter of aorta]. Prenatal pulmonary hypertension index and MGI were compared with lung-to-head ratio, percent predicted lung volume, and total lung volume for pulmonary hypertension and survival., Results: The PPHI and MGI had a significant, negative correlation with pulmonary hypertension (r = -0.61, P = .005, and r = -0.72, P < .005, respectively). The PPHI and MGI are significantly lower in the systemic/suprasystemic PAH group compared with the subsystemic PAH group (1.11 +/- 0.32 versus 1.63 +/- 0.28, P = .004, and 0.71 +/- 0.15 versus 1.05 +/- 0.11, P < .001, respectively). There were no significant differences between the groups comparing the lung-to-head ratio, percent predicted lung volume, and total lung volume., Conclusion: Both PPHI and MGI accurately predict the severity of postnatal PAH in isolated left CDH., (Copyright 2010 Elsevier Inc. All rights reserved.)

Rationale and Objectives: We examined whether the intravenous (IV) Doppler ultrasound contrast agent SHU 508 would improve the detection of reduced perfusion of rabbit testes when normal flow was otherwise difficult to detect., Methods: Seventeen anesthetized prepubertal rabbits underwent random unilateral spermatic cord ligation and a contralateral sham operation. Immediate, blinded, and systematic color Doppler examination of each pair of testes was recorded before and after IV administration of 1 ml (300 mg) SHU 508, a gas-containing microparticle. Recorded examinations were reviewed by two pediatric radiologists who were unaware of experimental conditions and who graded intratesticular flow., Results: For 34 pairs of observations (17 animals x 2 observers), intratesticular flow was absent in the sham-operated testes in 18 precontrast and two postcontrast images. The false-positive rate in this group decreased from 53% to 6%. This improvement in the detection of normal blood flow was statistically significant. The absence of flow in the ischemic testis was not significantly different before or after contrast agent administration., Conclusion: IV SHU 508 enhances color Doppler ultrasound detection of flow not otherwise evident in prepubertal rabbit testes. Doppler ultrasound contrast agents may be used in a setting of suspected torsion when routine Doppler sonography is indeterminate.