Seminars in perinatology最新文献

{"title":"Genetic epilepsies as a cause of seizures in Neonates","authors":"Adam L. Numis ,&nbsp;Marie-Coralie Cornet ,&nbsp;Hannah C. Glass","doi":"10.1016/j.semperi.2025.152146","DOIUrl":"10.1016/j.semperi.2025.152146","url":null,"abstract":"<div><div>The objective of this review is to summarize current knowledge on epilepsies presenting in the neonatal period and to highlight their implications for diagnosis and treatment. While most seizures in newborns are due to acute brain injuries, a significant minority are caused by genetic epilepsies, which require distinct clinical management. Advances in genetic testing have clarified the major etiologic categories, including channelopathies, synaptopathies, inborn errors of metabolism, and brain malformations. Bedside clinicians must be alert to a possible genetic epilepsy in a newborn with seizures, as precise diagnosis informs prognosis and directly guides therapy. Sodium channel blockers can improve seizure control in specific channelopathies, vitamin therapies are effective in certain metabolic epilepsies, dietary therapy is transformative in glucose transporter deficiency syndrome, and targeted approaches are emerging for tuberous sclerosis complex. Rapid exome and genome sequencing now enable timely diagnosis in critically ill neonates and support precision treatment. Even with improvements in seizure control, developmental outcomes often remain poor, underscoring the urgent need for disease-modifying therapies. In conclusion, early recognition of epilepsies in the neonatal intensive care unit is essential to optimize care today and to accelerate the development of future targeted treatments.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152146"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145102971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The placenta as a window into neonatal brain injury","authors":"Elmira Bachinsky ,&nbsp;Lauren Guyer ,&nbsp;Riddhi Patel ,&nbsp;Stephen K. Amoah ,&nbsp;Diana Ortega ,&nbsp;Shenandoah Robinson ,&nbsp;Hawley Helmbrecht ,&nbsp;Lauren L. Jantzie","doi":"10.1016/j.semperi.2025.152143","DOIUrl":"10.1016/j.semperi.2025.152143","url":null,"abstract":"<div><div>The placenta serves as an essential communicative organ between a mother and fetus throughout gestation. The placenta is critical in the development and maintenance of pregnancy while serving as a hub for immune signaling. In the context of an ever-changing microenvironment, the placenta responds dynamically to infection, inflammation, and other potentially harmful exposures. As in chorioamnionitis and preterm birth, a placental inflammatory response can impart harm to the developing fetal brain and facilitate the presentation of perinatal brain injury. Through various functional and structural disruptions, including changes to neural networks and complex neural immune interactions, neurodevelopmental disorders can manifest. In this review, we utilize chorioamnionitis as a platform for understanding immune signaling and inflammatory cell communication along the maternal-placental-fetal axis. We delineate how immune dysfunction changes neurodevelopment and explore cellular and molecular mechanisms associated with adverse clinical outcomes after birth. Together with discussion of unique inflammatory pathophysiology and triggers of perinatal brain injury, we explore avenues for neuroimmunomodulation, novel biomarker discovery, and precision medicine approaches for clinical practice.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152143"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human milk as therapy: neurodevelopment and neonatal brain injury","authors":"Katie M. Strobel ,&nbsp;Krystle M. Perez ,&nbsp;Hannah Benjamin ,&nbsp;Rebecca Hoban","doi":"10.1016/j.semperi.2025.152140","DOIUrl":"10.1016/j.semperi.2025.152140","url":null,"abstract":"<div><div>Human milk (HM) is the gold standard for infant feeding due to its associations with significant reductions in short and long-term serious morbidities. It is also associated with improved brain growth and development and neurodevelopmental outcomes, particularly in the preterm population. The myriad of bioactives found in HM, such as growth factors, stem cells, human milk oligosaccharides, and the human milk microbiome, presumably play a large role in these outcomes. Given the significant improvements in infant outcomes, components of HM are now being studied as targeted neurological therapy for brain injury. This narrative review will summarize the unique components of HM that are thought to be responsible for brain health and how they may affect brain structure and development in the term and preterm neonate. Neurodevelopmental improvements seen with HM feeding will also be reviewed. Finally, pre-clinical and clinical studies utilizing whole HM or HM components to treat brain injury will be summarized so that providers can better share the science of this remarkable biologic with multi-disciplinary teams and families.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152140"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145041341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal neuroimaging: from research to bedside practice","authors":"Mehmet N. Cizmeci ,&nbsp;Mohamed El-Dib ,&nbsp;Linda S. de Vries","doi":"10.1016/j.semperi.2025.152125","DOIUrl":"10.1016/j.semperi.2025.152125","url":null,"abstract":"<div><div>Neonatal neuroimaging is essential in research and clinical practice, offering important insights into brain development and neurologic injury mechanisms. Visualizing the brain enables researchers and clinicians to improve neonatal care and parental counselling through better diagnosis and prognostication of disease. Common neuroimaging modalities used in the neonatal intensive care unit (NICU) are cranial ultrasonography (cUS) and magnetic resonance imaging (MRI). Between these modalities, conventional MRI provides the optimal image resolution and detail about the developing brain, while advanced MRI techniques allow for the evaluation of tissue microstructure and functional networks. Over the last two decades, medical imaging techniques using brain MRI have rapidly progressed, and these advances have facilitated high-quality extraction of quantitative features as well as the implementation of novel devices for use in neurological disorders. Major advancements encompass the use of low-field dedicated MRI systems within the NICU and trials of ultralow-field portable MRI systems at the bedside. Additionally, higher-field magnets are utilized to enhance image quality, and ultrafast brain MRI is employed to decrease image acquisition time. Furthermore, the implementation of advanced MRI sequences, the application of machine learning algorithms, multimodal neuroimaging techniques, motion correction techniques, and novel modalities are used to visualize pathologies that are not visible to the human eye. In this narrative review, we will discuss the fundamentals of these neuroimaging modalities, and their clinical applications to explore the present landscape of neonatal neuroimaging from bench to bedside.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152125"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroprotective therapies for neonatal hypoxic-ischemic brain injury – a contemporary update","authors":"Hemmen Sabir","doi":"10.1016/j.semperi.2025.152128","DOIUrl":"10.1016/j.semperi.2025.152128","url":null,"abstract":"<div><div>Neonatal encephalopathy of hypoxic-ischemic origin remains a leading cause of global neonatal mortality. Over the past decades, various neuroprotective strategies have been explored; however, therapeutic hypothermia remains the only clinically approved intervention to date. This review outlines emerging and adjunctive treatment modalities beyond therapeutic hypothermia and emphasizes the critical need for robust and reproducible translational research to bridge the gap between preclinical findings and clinical applications.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152128"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144967691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The advantages and limitations of animal models for understanding acute neonatal brain injury","authors":"Kelly Q. Zhou ,&nbsp;Raymand Pang ,&nbsp;Nicola J. Robertson ,&nbsp;Justin M. Dean ,&nbsp;Laura Bennet ,&nbsp;Joanne O. Davidson ,&nbsp;Alistair J. Gunn","doi":"10.1016/j.semperi.2025.152129","DOIUrl":"10.1016/j.semperi.2025.152129","url":null,"abstract":"<div><div>Neonatal hypoxic-ischemic encephalopathy (HIE) remains a major cause of death and disability around the world. Therapeutic hypothermia is now established to improve outcomes in term and near-term infants in high-income countries, but even in this setting, many infants still survive with disability. To further improve outcomes, experimental models are needed to test new interventions before clinical translation. In the present review, we discuss the strengths and weaknesses of a range of near-term and term models and their utility for understanding the pathophysiology of HIE and to test potential treatments. It is important to reflect that the strength of the evidence base for therapeutic hypothermia before it went to trial was that multiple groups using different and complementary models all showed benefit and that these models had been used to define the key parameters needed to achieve neuroprotection. We strongly advocate that this should be the expectation for all new neuroprotective interventions before large pragmatic randomized controlled trials are carried out.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152129"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144967712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and epigenetic contributors and mimickers of phenotypic hypoxic-ischemic encephalopathy (HIE)","authors":"Ulrike Mietzsch ,&nbsp;Janessa B. Law ,&nbsp;Basel Thayyil ,&nbsp;Danny E. Miller ,&nbsp;Thomas R. Wood ,&nbsp;Niranjana Natarajan ,&nbsp;Khorshid Mohammad","doi":"10.1016/j.semperi.2025.152112","DOIUrl":"10.1016/j.semperi.2025.152112","url":null,"abstract":"<div><div>Hypoxic-ischemic encephalopathy (HIE) remains one of the leading causes of neonatal morbidity and mortality despite advancement in care. Over 60 % of infants presenting with phenotypic HIE lack a clear identifiable acute sentinel event. Clinical genetic testing in neonates with suspected HIE has uncovered an increasing number of genetic conditions and epigenetic modifications that impair their ability to tolerate the stress of labor and delivery or exacerbate the severity of clinical symptoms following a hypoxic-ischemic insult. While most of those conditions are rare, many of the identified alterations involve common biological pathways and organ systems - particularly those affecting energy metabolism or the function of cells and organs of high energy demand such as brain, heart, and skeletal muscle - as well as genetic epilepsies. Here we provide an overview of the genetic makeup and epigenetic signatures associated with HIE and the insights they have provided into distinguishing genetic etiologies from true HIE. By outlining modern genetic testing modalities and their clinical applications, we provide a structured diagnostic approach for clinicians evaluating neonates with phenotypic HIE and highlight the clinical and therapeutic implications of early genetic diagnosis. This review underscores the critical importance of recognizing that HIE may not always represent a purely hypoxic-ischemic etiology, but rather a final common pathway influenced by underlying genetic predisposition and environmental factors that highlight the potential for precision medicine approaches to improve outcomes in this vulnerable population.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152112"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144554385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of sleep in neonatal neurocritical care and the influence on long-term outcome","authors":"Leonie M. Paciello ,&nbsp;Mirja Quante ,&nbsp;Hendrik Rosewich ,&nbsp;Renée A. Shellhaas","doi":"10.1016/j.semperi.2025.152127","DOIUrl":"10.1016/j.semperi.2025.152127","url":null,"abstract":"<div><div>Prematurity, birth complications, and congenital brain abnormalities can lead to neurological conditions that require intensive monitoring and treatment. Ensuring healthy sleep is needed to help infants recover from these conditions and positively influence neurodevelopmental outcomes. Yet, achieving optimal sleep represents a challenge in the complex setting of neonatal neurocritical care.</div><div>In this narrative review, we examine the role of sleep within the context of neonatal neurocritical care. Specifically, we analyze the underlying physiological mechanisms of sleep and how these processes are altered by the intensive care environment and neurological pathology. We evaluate current evidence regarding the contribution of sleep to neurological recovery and its impact on long-term neurodevelopmental outcomes. Finally, we discuss existing and emerging strategies to monitor and optimize sleep in neonatal neurocritical care settings.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152127"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Remote neonatal neurocritical care: from the bedside to the cloud","authors":"Gabriel Fernando Todeschi Variane ,&nbsp;Danieli Mayumi Kimura Leandro ,&nbsp;Silvia Schoenau de Azevedo ,&nbsp;Juliana Querino Teixeira ,&nbsp;Marcelo Jenné Mimica","doi":"10.1016/j.semperi.2025.152124","DOIUrl":"10.1016/j.semperi.2025.152124","url":null,"abstract":"<div><div>Neonatal neurocritical care (NNCC) has emerged as a specialized discipline to address the unique neurological needs of critically ill newborns. However, disparities in access to brain-focused expertise and neuromonitoring technologies remain a significant global challenge. Remote NNCC, supported by telemedicine and digital health tools, offers a promising approach to extend specialized neurological care beyond tertiary centers, particularly to underserved or resource-limited settings.</div><div>This review explores the current landscape, opportunities, and limitations of remote NNCC. Key applications include remote consulting and rounding, tele-interpretation of neurophysiological data, integration of multimodal monitoring, remote neuroimaging evaluation, and virtual neurological examinations. Additionally, telehealth platforms are increasingly used to support neurodevelopmental follow-up and therapeutic interventions after NICU discharge. These approaches can enhance diagnostic precision, enable timely intervention, reduce unnecessary transfers, and promote equity in care delivery.</div><div>Advancements in artificial intelligence, immersive reality, and digital twins modeling may further expand the capabilities of remote NNCC. These emerging technologies hold the potential to optimize real-time decision-making, personalize interventions, and foster large-scale collaboration through cloud-based data integration. However, significant barriers remain, including limitations in infrastructure, interoperability between systems, variability in training, and ethical concerns related to data privacy, algorithmic bias, and equitable access.</div><div>To ensure the safe and effective adoption of remote NNCC, standardized protocols, robust governance frameworks, and investments in workforce development and infrastructure are essential. Interdisciplinary collaboration and global partnerships will be critical in addressing these challenges and realizing the full potential of remote NNCC in improving neurological outcomes for high-risk neonates worldwide.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152124"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leveraging neonatal neuroimaging for neuroprognostication in presumed hypoxic-ischemic encephalopathy: A framework for clinicians","authors":"Mehmet N. Cizmeci ,&nbsp;Andrea van Steenis ,&nbsp;Rhandi Christensen ,&nbsp;Sylke Jeanne Steggerda ,&nbsp;Linda S. de Vries","doi":"10.1016/j.semperi.2025.152126","DOIUrl":"10.1016/j.semperi.2025.152126","url":null,"abstract":"<div><div>Brain magnetic resonance imaging (MRI) in neonates with presumed hypoxic-ischemic encephalopathy (HIE) offers a unique window into the extent and timing of injury, providing valuable insights for neuroprognostication. Brain MRI refines the prediction of functional outcomes, crucial for guiding family counseling and early interventions. The present article focuses on the role of post-rewarming brain MRI in this context, exploring specific MRI findings associated with diverse neurodevelopmental outcomes and highlights the potential of neuroimaging to improve the understanding and prediction of long-term functional outcomes. Utilizing a framework with likelihood categories, this work aims to enhance the accuracy of prediction of adverse outcomes within specific developmental domains, thereby refining neuroprognostication for informed discussions with caregivers.</div></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":"49 8","pages":"Article 152126"},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144967461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}