Seminars in Fetal & Neonatal Medicine最新文献

Fetal hypoxemia is ubiquitous during labor and, when severe, is associated with perinatal death and long-term neurodevelopmental disability. Adverse outcomes are highly associated with barriers to care, such that developing countries have a disproportionate burden of perinatal injury. The prevalence of hypoxemia and its link to injury can be obscure, simply because the healthy fetus has robust coordinated defense mechanisms, spearheaded by the peripheral chemoreflex, such that hypoxemia only becomes apparent in the minority of cases associated with stillbirth, severe metabolic acidemia or adverse neurodevelopmental outcomes. This represents only the extreme end of the spectrum, when defense mechanisms have failed due to severe/prolonged hypoxemia, or the fetal defenses are compromised by additional risk factors. Understanding the fetal defenses to hypoxemia and when the fetus begins to decompensate is crucial to understanding perinatal health and disease, by linking antenatal health, intrapartum events, the neonatal trajectory and ultimately life-long neurodevelopmental health.

Perinatal medicine has made significant advancements in recent decades. This has improved care and outcomes for infants. As we strive to improve neurodevelopmental outcomes, we must understand the influence the maternal/placental/fetal (MPF) triad has on fetal development and postnatal health and disease. Our understanding of the MPF triad remains incomplete, however research is continuing to develop our understanding. Through further research and incorporating what is currently known into how we deliver perinatal care, we have the opportunity to improve outcomes for infants. This review focuses on what is currently known about the structure and function of the placenta and the influence of the MPF triad. Current modalities for assessment of the MPF triad and future avenues for research will also be discussed. Understanding the relationship between the MPF triad, neurodevelopment and long-term health and disease has the potential to open new avenues for disease prevention and treatment through the lifespan.

Worldwide polycrises continue to challenge the World Health Organization's proposed 2030 sustainable development goals. Continuity of brain care bundles helps attain these goals by sustaining brain health over successive generations. Factors representing social drivers of health must incorporate transdisciplinary care into equitable intervention choices. Drivers are more effectively addressed by combining maternal and pediatric assessments to address morbidity and mortality across each lifespan. Care bundles comprise at least three evidenced-based interventions collectively implemented during a clinical experience to achieve a desired outcome. Synergy among stakeholders prioritize communication, responsibility, compliance and trust when choosing bundles in response to changing clinical conditions. A prenatal transdisciplinary model continues after birth with infant and family-centered developmental care practices through discharge to supplement essential skin-to-skin contact. Fetal-neonatal neurology training encourages participation in this model of brain health care to more effectively choose neurodiagnostic and neuroprotective options. Shared clinical decisions evaluate interventions from conception through the first 1000 days. At least eighty percent of brain connectivity will have been completed during this first critical/sensitive period of neuroplasticity. The developmental origins of health and disease concept offers neurology subspecialists a life-course perspective when choosing brain health strategies. Toxic stressor interplay from reproductive and pregnancy diseases and adversities potentially impairs embryonic, fetal and neonatal brain development. Continued exposures throughout maturation and aging worsen outcome risks, particularly during adolescence and reproductive senescence. Intragenerational and transgenerational use of care bundles will guide neuromonitoring and neuroprotection choices that strengthen preventive neurology strategies.

This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics, understanding the language of genetics, genetic testing approaches, and interpretation of genetic test results. Common examples of neurogenetic disease in fetal-neonatal medicine are used to enhance basic concepts. The results of genetic testing and their implications for patients and families are outlined. Genetics is becoming foundational to clinical practice across specialties. The advances are improving the speed of diagnosis, facilitating early treatments, and improving outcomes in neurogenetic disorders. A basic understanding of genetics is foundational to appropriate clinical-decision making and interpretation of those results to describe common fetal-neonatal neurological phenotypes.

Congenital aqueduct stenosis AS is a significant cause of fetal obstructive hydrocephalus, characterized by the obliteration of the cerebral aqueduct, leading to cerebrospinal fluid (CSF) accumulation in the ventricular system and secondary brain damage and cerebral maldevelopment. This review explores the progression from basic science to clinical applications of antenatal surgical interventions for AS, emphasizing historical efforts, current research, and translational studies. Despite advances in prenatal imaging and genetic screening, challenges remain in achieving appropriate fetal candidates, consistent ventricular decompression, and standardized surgical protocols. This review highlights the need for further research and innovation to improve prenatal treatment and outcomes for AS-affected fetuses.

Cerebral palsy (CP) is a clinical term used to describe a spectrum of movement and posture disorders resulting from non-progressive disturbances in the developing fetal brain. The clinical diagnosis of CP does not include pathological or aetiological defining features, therefore both genetic and environmental causal pathways are encompassed under the CP diagnostic umbrella. In this review, we explore several genetic causal pathways, including both monogenic and polygenic risks, and present evidence supporting the multifactorial contributions to CP. Historically, CP has been associated with various risk factors such as pre-term birth, multiple gestation, intrauterine growth restriction (IUGR), maternal infection, and perinatal asphyxia. Thus, we also examine genetic predispositions that may contribute to these risk factors. Understanding the specific aetiology of CP enables more tailored treatments, especially with the increasing potential for early genetic testing.

Neonatal encephalopathy remains a major contributor to death and disability around the world. Acute hypoxia-ischaemia before, during or after birth creates a series of events that can lead to neonatal brain injury. Understanding the evolution of injury underpinned the development of therapeutic hypothermia. This review discusses the determinants of injury, including maturity, the pattern of exposure to HI, impaired placental function, often associated with fetal growth restriction and in the long-term, socio-economic deprivation. Chorioamnionitis has been associated with the presence of NE, but it is important to note that experimentally, inflammation can either sensitize to greater neural injury after HI or alleviate injury, depending on its precise timing. As fetal surveillance tools improve it is likely that improved detection of specific pathways will offer future opportunities for preventive and reparative interventions in utero and after birth.

Pediatric neurocritical care is a field dedicated to providing specialized assessment and care of critically-ill children with neurologic disease or at risk of neurologic compromise. Fellowship programs for providers interested in specializing in pediatric neurocritical care are growing and developing to meet the needs of trainees and the patient populations that they serve. Fetal and neonatal neurocritical care fellowship remains a separate opportunity for training; however, inclusion of fetal and neonatal neurology education into pediatric neurocritical care broadens understanding of normal and pathologic anatomy and physiology, diagnostic interpretation of the developing brain, targeted management interventions, family counseling and prognostication, and long-term optimization of outcomes. For instance, the care of neurologic injury in congenital heart disease emphasizes the incorporation of medical education across the lifespan. Additionally, neonates requiring NICU admission and care are more likely to require future PICU care and be served by neurocritical care providers. Furthermore, neonates with neurologic injury or at risk for neurologic injury are not exclusively admitted to neonatal units. Education across the age-spectrum inclusive of fetal and neonatal neurology is valuable for trainees in understanding underlying disease processes, management, and sequelae and promotes the growth of the field of pediatric neurocritical care.

Neonatal tone abnormalities can often be the first indication of cerebral palsy (CP) and need regular developmental assessments by a multidisciplinary team. The need for early diagnosis and treatment during the height of neural plasticity is crucial. Currently, the number of clinical practice guidelines and the quality of evidence for treatment of tone in neonates is insufficient. In this review, we discuss the physiology of tone abnormalities including structural-functional components of motor control and time-dependent etiology of injury. We provide a guideline for assessment of a neonate with concern for tone abnormalities including a discussion on available diagnostic and functionality rating scales. Lastly, we describe the importance of a multidisciplinary care team involving the patient's caregiver as well as non-pharmacological, pharmacological, and surgical treatment options for tone abnormalities. We stress the importance of regular, serial examinations for tone as these neonates get older to assess eligibility for additional interventions.