Search Results (99)

Myocardial hypertrophy (MH) represents a complex and heterogeneous condition in the pediatric and young adult population. While rare in children, MH encompasses a wide spectrum of physiological and pathological entities, ranging from transient hypertrophy in the infants of diabetic mothers to progressive genetic hypertrophic cardiomyopathies (HCM) with significant morbidity and mortality. Differential diagnosis is critical, as many phenocopies—including metabolic, mitochondrial, and syndromic diseases—can mimic HCM. Echocardiography remains the first-line imaging modality, with cardiac magnetic resonance (CMR) and molecular diagnostics increasingly used for detailed characterization. Risk stratification tools, such as the HCM Risk-Kids model, support clinical decision-making but must be integrated with individualized assessment. Advances in prenatal screening and genetic testing have significantly improved outcomes, though long-term management requires multidisciplinary care. Understanding age-specific presentations and the underlying etiologies is essential for accurate diagnosis and targeted treatment. This review provides a comprehensive overview of cardiac hypertrophy from fetal life through young adulthood, with a focus on etiologies, diagnostic approaches, imaging modalities, and therapeutic strategies, and aims to guide clinicians through the evolving landscape of MH, emphasizing early recognition, comprehensive evaluation, and personalized care. Full article

Background and Clinical Significance: Gliomas diagnosed during pregnancy are rare, and there are no established guidelines for their management. Effective treatment requires a multidisciplinary approach to balance maternal health and pregnancy preservation. Case Presentation: We here present a case of rapidly progressing glioma in a 33-year-old pregnant woman. The patient initially presented with a generalized tonic–clonic seizure at 21 weeks’ gestation. Imaging revealed a tumor in the right cerebral lobe, involving both cortical and subcortical structures, while magnetic resonance spectroscopy suggested a low-grade glioma. The patient remained clinically stable for two months but then developed severe headaches; MRI showed a worsening mass effect. At 34 weeks’ gestation, an emergency and premature caesarean section was performed under general anesthesia. The patient then underwent a craniotomy for maximal tumor resection, which was histologically and molecularly diagnosed as IDH wild-type glioblastoma (GB). Using qPCR, we found that the GB tissue showed upregulated expression of genes involved in cell structure (GFAP, VIM) and immune response (SSP1, TSPO), as well as increased expression of genes related to potential hormone response (AR, CYP19A1, ESR1, GPER1). After surgery, the patient showed resistance to Stupp protocol therapy, which was substituted with lomustine and bevacizumab combination therapy. Conclusions: This case illustrates that glioma may progress rapidly during pregnancy, but a favorable obstetric outcome is achievable. Management of similar cases should respect both the need for timely treatment and the patient’s informed decision. Full article

Objective: Ventriculomegaly is the main prenatal imaging feature for diagnosing fetal central nervous system anomalies in humans. Many ventriculomegalies can be related to genetic causes, regardless of their imaging presentations. Among these, MPDZ variants have been reported to cause severe ventriculomegaly inherited in an autosomal recessive manner (OMIM#615219). Several hypotheses have been put forward linking MPDZ variants to ventriculomegaly, but the precise underlying mechanisms, in particular whether its origin is obstructive or non-obstructive, are yet to be elucidated. Methods: To address this question, we retrospectively analyzed pre- and postnatal neuro-imaging and neuropathological data for cases of ventriculomegaly in which MPDZ variants were found through exome or genome sequencing. We performed anti-MPDZ immunostaining on fetal brain samples. Results: We analyzed six cases (four fetuses and two children) of ventriculomegaly of variable severities with MPDZ variants. The precise analysis of brain MRI data, corroborated by fetopathological examinations, demonstrated an obstructive pattern of ventriculomegaly upstream from partial fusion of the thalami, also called diencephalosynapsis, with partial atresia of the third ventricle, which could extend to Sylvius’s aqueduct. Conclusions: The morphological analysis using targeted brain magnetic resonance imaging (MRI) and neuropathological data allowed us to unravel the underlying mechanisms of congenital ventriculomegaly related to MDPZ variants. Full article

Background/Objectives: The fetal-type posterior cerebral artery (fetal PCA) is an anatomical variant that alters hemodynamics and may influence posterior communicating artery (PCoA) aneurysm rupture risk. Aneurysm shape and size irregularity are key rupture predictors. This study investigates the impact of fetal PCA on PCoA aneurysm morphology and rupture risk using a radiomics-based approach. Methods: We retrospectively analyzed 87 patients with PCoA aneurysms (39 ruptured, 48 unruptured) treated at a tertiary center (January 2017–December 2022). Seventeen morphological parameters and 18 radiomic features were extracted per aneurysm. Patients were grouped by fetal PCA presence. Logistic regression and receiver operating characteristic (ROC) analyses identified rupture predictors. Results: Of 87 aneurysms, 38 had fetal PCA (24 ruptured, 14 unruptured), and 49 did not (15 ruptured, 34 unruptured). Fetal PCA was significantly associated with rupture (odds ratio [OR]: 3.28, p = 0.018). A higher non-sphericity index (NSI) correlated with rupture risk (OR: 3.35, p = 0.016). In non-fetal PCA aneurysms, size-related parameters such as height (6.83 ± 3.54 vs. 4.88 ± 2.57 mm, p = 0.034) and area (190.84 ± 167.08 vs. 107.94 ± 103.10 mm², p = 0.046) were key rupture predictors. In fetal PCA aneurysms, flow-related parameters like vessel angle (55.78 ± 31.39 vs. 38.51 ± 24.71, p = 0.035) were more influential. ROC analysis showed good discriminatory power, with an area under the curve: 0.726 for fetal PCA and 0.706 for NSI. Conclusions: Fetal PCA influences PCoA aneurysm rupture risk and morphology. NSI is a reliable rupture marker. Integrating morphological and anatomical data may improve rupture risk assessment and clinical decision-making. Full article

Background/Objective: The accurate diagnosis of congenital central nervous system abnormalities is critical to pre- and postnatal prognostication and management. When an abnormality is found in the posterior fossa of the fetal brain, parental counseling is challenging because of the wide spectrum of clinical and neurodevelopmental outcomes in patients with Dandy–Walker (DW) spectrum posterior malformations. The objective of this study was to evaluate the utility of biometric measurements obtained from fetal magnetic resonance imaging (MRI) to facilitate the prenatal differentiation of Dandy–Walker (DW) spectrum malformations, including vermian hypoplasia (VH), Blake’s pouch cyst (BPC), and classic Dandy–Walker malformation (DWM). Methods: This retrospective single-center study evaluated 34 maternal–infant dyads referred for fetal MRI evaluation of suspected DW spectrum malformations identified on antenatal ultrasound. Radiologists took posterior fossa measurements, including the vermis anteroposterior (AP) diameter, vermis height (VH), and tegmento–vermian angle (TVA). The posterior fossa, fourth ventricle, and cisterna magna were classified as normal, large, or dilated. The postnatal imaging findings were evaluated for concordance. The acquired values were compared between the groups and with normative data. The genetic testing results are reported when available. Results: A total of 27 DW spectrum fetal MRI cases were identified, including 7 classic DWMs, 14 VHs, and 6 BPCs. The TVA was significantly higher in the DWM group compared with the VH and BPC groups (p < 0.001). All three groups had reduced AP vermis measurements for gestational age compared with normal fetal brains, as well as differences in the means across the groups (p = 0.002). Conclusions: Biometric measurements derived from fetal MRI can effectively facilitate the prenatal differentiation of VH, BPC, and classic DWM when assessing DW spectrum posterior fossa lesions. Standardizing biometric measurements may increase the diagnostic utility of fetal MRI and facilitate improved antenatal counseling and clinical decision-making. Full article

Introduction: Molybdenum cofactor deficiency (MoCD) is a rare, lethal disorder characterized by early-onset encephalopathy and seizures. In 2021, fosdenopterin (Nulibry^TM) became the first FDA-approved treatment for MoCD type A (MoCD-A). Case Presentation: A G3P2 woman with a prior affected child underwent prenatal diagnosis of MoCD-A at 16 weeks via amniocentesis. Fetal Magnetic Resonance Imaging (MRI) at 22 weeks was normal but showed a mega cisterna magna by 28 weeks. Concerns of ongoing brain damage led to a cesarean section at 32 weeks 6 days estimated gestational age (EGA). Intravenous fosdenopterin was administered within 10 min of birth. Seizures started around 12 h and escalated to status epilepticus by 24 h but resolved by 60 h with treatment. Early MRI demonstrated acute injury without chronic changes. The infant was discharged on day 37 and diagnosed with spastic quadriplegic cerebral palsy at 6 months, with cognition relatively spared. At 24 months, the child remains seizure-free with moderate motor impairment. Conclusions: This case highlights that brain injury in MoCD-A may commence in utero during the second trimester. Early delivery combined with immediate neonatal fosdenopterin treatment controlled seizures and halted progression, but residual injury suggests that prenatal interventions are necessary to optimize outcomes. Full article

Pediatric congenital lung malformations (CLMs) comprise a spectrum of developmental anomalies of lung parenchyma, airways, and vasculature. CLMs are increasingly diagnosed prenatally but remain best characterized by postnatal cross-sectional imaging. During pregnancy, ultrasound (US) and fetal magnetic resonance imaging (MRI) are commonly used to monitor lung lesions. Management of CLMs, including imaging, in infants and young children depends on associated symptoms and institutional standards. Chest CT angiography (CTA) is usually the most appropriate initial postnatal imaging modality for assessing prenatally diagnosed or clinically suspected CLMs in asymptomatic infants and children. Magnetic resonance (MR) imaging/magnetic resonance angiography (MRA) may be considered as a complementary, problem-solving, imaging modality for evaluation of CLMs during fetal and neonatal periods. This article presents contemporary perspectives on the imaging approach to pediatric patients with suspected CLMs and reviews up-to-date radiologic findings and clinical characteristics of CLMs. Full article

Placental-derived pregnancy complications encompass a range of disorders that hinder optimal fetal development, significantly impacting maternal and neonatal health outcomes. Key conditions include placental insufficiency, preeclampsia, fetal growth restriction (FGR) or intrauterine growth restriction (IUGR), fetal overgrowth, and gestational diabetes mellitus (GDM), which together contribute to a heightened risk of preterm birth, perinatal mortality, and long-term developmental challenges in affected infants. These complications are particularly notable because they generate approximately 80% of pregnancy disorders and pose significant public health concerns across diverse global contexts. Their management continues to face challenges, including a lack of consensus on diagnostic criteria and varied implementation of care standards. While imaging techniques like magnetic resonance imaging (MRI) and Doppler ultrasound have emerged as critical tools in clinical assessment, disparities in access to such technologies exacerbate existing inequalities in maternal and fetal health outcomes. Maternal and pregnancy care is a broad range of services aimed at promoting the well-being of women throughout the perinatal period. However, access to these services is often limited by economic, geographical, and sociocultural barriers, particularly for marginalized groups and women in low- and middle-income countries (LMICs). The implementation of targeted interventions designed to address specific obstacles faced by disadvantaged populations is a crucial component of bridging the gap in health equity in maternal care. Public health authorities and policymakers strive to develop evidence-based strategies that address the interplay between healthcare access, socioeconomic factors, and effective interventions in order to mitigate the adverse effects of placental-derived pregnancy complications. Continued research and data collection are essential to inform future policies and practices to improve outcomes for mothers and infants. Full article

Pregnancy induces significant hemodynamic changes, and cardiovascular diseases (CVDs) are one of the leading causes of non-obstetric maternal morbidity and mortality during pregnancy or the postpartum period in developed countries. The effective diagnosis and management of CVDs in pregnant women require a thorough evaluation that considers the health of both the mother and the fetus. Imaging plays a pivotal role in this evaluation, offering essential insights into the most significant pregnancy-related CVDs. However, due to concerns about fetal exposure, the use of contrast agents and radiation exposure must be carefully managed. Following to the principle of “As Low As Reasonably Achievable” (ALARA), strategies to minimize these risks are crucial for ensuring patient safety while maintaining diagnostic accuracy. This review highlights the contribution of cardiovascular imaging techniques, particularly computed tomography (CT) and magnetic resonance imaging (MRI), in the assessment of common pregnancy-related CVDs, and outlines strategies to reduce radiation exposure and limit contrast agent use when feasible, aiming to increase radiologists’ awareness of this crucial topic. Full article

Background: Congenital mesoblastic nephroma represents 3–10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally and at birth. It usually presents as a benign tumor, but it can severely affect pregnancy outcomes, contributing to perinatal morbidity and mortality. Lissencephaly belongs to a rare category of neurodevelopmental disorders marked by the absence of a substantial reduction in the typical folds and grooves in the cerebral cortex. The prognosis for patients with lissencephaly is extremely poor, carrying with it a high mortality rate. Case Presentation: We present a case of congenital mesoblastic nephroma (CMN) diagnosed with polyhydramnios at 28 weeks of gestation, which led to preterm delivery at 29 weeks and a fatal outcome for the newborn. Histopathological examination confirmed the diagnosis of CMN along with fetal pachygyria/lissencephaly. The aim of this study is to point out the characteristics and unique correlation between CMN and lissencephaly, and to illustrate the histopathological features of CMN and lissencephaly through an educational example derived from our presented index case. To the best to our knowledge, the association of CMN with lissencephaly has not been described in the literature so far. Conclusions: Outlining the prenatal progression of CMN and the outcome of pregnancies involving fetal CMN and lissencephaly, this case underscores the importance of comprehensive ultrasound examinations, including central nervous system evaluation, to identify potential coexisting anomalies and refine prenatal diagnostic practices. Full article

Background/Objectives: Little is known about the advantages of Diffusion Tensor Imaging (DTI) when evaluating the fetal corpus callosum (CC), a sensitive indicator for normal brain development. This study evaluates the contribution of DTI compared to T2-weighted imaging to assess fetal CC biometry. Methods: Data from the fetal MRI exams of singleton pregnancies between July 2017 and 2019 were retrospectively analyzed. Mid-sagittal sections were used to measure the CC biometry, and inter- and intra-observer agreements were assessed using the interclass correlation coefficient (ICC), targeting an ICC above 0.85. Results: The results from 100 patients (mean gestational age, 32.24 weeks) indicated excellent inter-observer reliability for DTI (ICC = 0.904, 95% CI = 0.815–0.952) and moderate agreement for T2-weighted imaging (ICC = 0.719, 95% CI = 0.556–0.842). Intra-observer assessments showed excellent reliability for both DTI and T2-weighted imaging (ICC = 0.967, 95% CI = 0.933–0.984 and ICC = 0.942, 95% CI = 0.884–0.971, respectively). However, a comparison between DTI and T2-weighted images for CC biometry showed poor agreement (ICC = 0.290, 95% CI = 0.071–0.476). Conclusions: In conclusion, the study highlights a lack of agreement between DTI and T2-weighted imaging in fetal CC biometry, suggesting the need for further research to understand this discrepancy and the role of DTI in fetal health. Full article

Background/Objectives: This study aimed to explore a relationship between the fetal subarachnoid space (SAS) width and various fetal pathologies, employing fetal brain MRI scans. Methods: A retrospective collection of fetal brain MRI scans of 78 fetuses was performed with sonographic indications of microcephaly, macrocephaly, or fetal growth restriction (FGR), during a 7-year period at a single tertiary center. The SAS width (named the SAS index) was manually measured in millimeters in ten specific anatomical locations (four in the axial plane and six in the coronal plane), and then converted to centiles by comparing it to (previously collected) data of apparently healthy fetuses. We evaluated the median SAS centiles using the Kruskal–Wallis and Mann–Whitney U tests for statistical comparison. Results: Seventy-eight subjects (mean gestational age of MRI scan 34.2 ± 2.2 weeks) were evaluated. The median SAS centiles were consistently higher in the macrocephaly group compared to the microcephaly group in all ten anatomical locations (statistically significant except coronal left inferior temporal gyri). Most pronounced difference was displayed in the insula gyri (axial and coronal). The median SAS centiles were higher in the microcephaly group when compared with FGR across all ten anatomical locations (all were statistically significant except for coronal frontal and insula gyri), and the maximal difference was found in the frontal gyri of both planes. The median SAS indexes (IQR) of the three groups in millimeters: macrocephaly 91.55 (86.35–101.05), microcephaly 59.46 (50.00–66.91), and FGR 53.21 (49.71–59.10), p < 0.001. Conclusions: We found a statistically significant association between the fetal subarachnoid space and various fetal pathologies: macrocephaly, microcephaly, and FGR. Full article

A 35-year-old primigravida with a history of adenomyosis enucleation was diagnosed with abnormal fetal position at 25 weeks of gestation. The patient presented with normal vital signs and no symptoms. A cardiotocogram and transabdominal ultrasound revealed a healthy fetus, normal amniotic fluid volume, and no intra-abdominal bleeding. Pelvic magnetic resonance imaging (MRI) indicated a ruptured muscular layer of the uterine fundus, with the fetus completely prolapsed into the abdominal cavity. An emergency cesarean section was performed, during which the fetus was found wrapped within the amniotic membrane in the abdominal cavity. The uterus exhibited extensive tearing along the line of the previous surgical scar; however, no hemorrhage was observed. In this case, despite uterine rupture, blood flow through the umbilical cord from the placenta in the uterus resulted in the survival of the fetus. In addition, MRI was essential in determining the appropriate timing to save the fetus. Full article

Maternal nutrition during pregnancy is known to be important for offspring growth and health and has also been increasingly recognized for shaping offspring brain development. On the other hand, recent advancements in brain imaging technology have provided unprecedented insights into fetal, neonatal, and pediatric brain morphometry and function. This review synthesizes the current literature regarding the impact of maternal nutrition on offspring brain development, with a specific focus on findings from neuroimaging studies. The diverse effects of maternal nutrients intake or status during pregnancy on neurodevelopmental outcomes in children are discussed. Neuroimaging evidence showed associations between maternal nutrition such as food categories, macronutrients, and micronutrients including vitamins and minerals during pregnancy and child brain imaging features measured using imaging techniques such as ultrasound, magnetic resonance imaging (MRI), electroencephalography (EEG), and magnetoencephalography (MEG). This review demonstrates the capability of neuroimaging in characterizing how maternal nutrition during pregnancy impacts structure and function of the developing brain that may further influence long-term neuropsychological, cognitive, and behavioral outcomes in children. It aims to inspire future research utilizing neuroimaging to deepen our understanding of the critical impacts of maternal nutrition during pregnancy on offspring brain development. Full article

Fetal magnetic resonance imaging (fMRI) represents a second-line imaging modality that provides multiparametric and multiplanar views that are crucial for confirming diagnoses, detecting associated pathologies, and resolving inconclusive ultrasound findings. The introduction of high-field magnets and new imaging sequences has expanded MRI’s role in pregnancy management. Recent innovations in ECG-gating techniques have revolutionized the prenatal evaluation of congenital heart disease by synchronizing imaging with the fetal heartbeat, thus addressing traditional challenges in cardiac imaging. Fetal cardiac MRI (fCMR) is particularly valuable for assessing congenital heart diseases, especially when ultrasound is limited by poor imaging conditions. fCMR allows for detailed anatomical and functional evaluation of the heart and great vessels and is also useful for diagnosing additional anomalies and analyzing blood flow patterns, which can aid in understanding abnormal fetal brain growth and placental perfusion. This review emphasizes fMRI’s potential in evaluating cardiac and thoracic structures, including various gating techniques like metric optimized gating, self-gating, and Doppler ultrasound gating. The review also covers the use of static and cine images for structural and functional assessments and discusses advanced techniques like 4D-flow MRI and T1 or T2 mapping for comprehensive flow quantification and tissue characterization. Full article