Scher Mark Steven
Fetal/Neonatal Neurology Program, Division of Pediatric Neurology, Department of Pediatrics, Case Western Reserve University, Cleveland, OH, United States.
Front Neurol. 2024 Jan 30;15:1335933. doi: 10.3389/fneur.2024.1335933. eCollection 2024.
Fetal-neonatal neurologists (FNNs) consider diagnostic, therapeutic, and prognostic decisions strengthened by interdisciplinary collaborations. Bio-social perspectives of the woman's health influence evaluations of maternal-placental-fetal (MPF) triad, neonate, and child. A dual cognitive process integrates "fast thinking-slow thinking" to reach shared decisions that minimize bias and maintain trust. Assessing the science of uncertainty with uncertainties in science improves diagnostic choices across the developmental-aging continuum. Three case vignettes highlight challenges that illustrate this approach. The first maternal-fetal dyad involved a woman who had been recommended to terminate her pregnancy based on an incorrect diagnosis of an encephalocele. A meningocele was subsequently identified when she sought a second opinion with normal outcome for her child. The second vignette involved two pregnancies during which fetal cardiac rhabdomyoma was identified, suggesting tuberous sclerosis complex (TSC). One woman sought an out-of-state termination without confirmation using fetal brain MRI or postmortem examination. The second woman requested pregnancy care with postnatal evaluations. Her adult child experiences challenges associated with TSC sequelae. The third vignette involved a prenatal diagnosis of an open neural tube defect with arthrogryposis multiplex congenita. The family requested prenatal surgical closure of the defect at another institution at their personal expense despite receiving a grave prognosis. The subsequent Management of Myelomeningocele Study (MOMS) would not have recommended this procedure. Their adult child requires medical care for global developmental delay, intractable epilepsy, and autism. These three evaluations involved uncertainties requiring shared clinical decisions among all stakeholders. Falsely negative or misleading positive interpretation of results reduced chances for optimal outcomes. FNN diagnostic skills require an understanding of dynamic gene-environment interactions affecting reproductive followed by pregnancy exposomes that influence the MPF triad health with fetal neuroplasticity consequences. Toxic stressor interplay can impair the neural exposome, expressed as anomalous and/or destructive fetal brain lesions. Functional improvements or permanent sequelae may be expressed across the lifespan. Equitable and compassionate healthcare for women and families require shared decisions that preserve pregnancy health, guided by person-specific racial-ethnic, religious, and bio-social perspectives. Applying developmental origins theory to neurologic principles and practice supports a brain health capital strategy for all persons across each generation.
胎儿-新生儿神经科医生（FNNs）认为跨学科合作能加强诊断、治疗和预后决策。女性健康的生物-社会视角会影响对母-胎盘-胎儿（MPF）三联体、新生儿及儿童的评估。一种双重认知过程将“快速思维-慢速思维”整合起来，以达成能将偏差最小化并维持信任的共同决策。用科学中的不确定性来评估不确定性科学，能改善整个发育-衰老连续体中的诊断选择。三个病例 vignettes 突出了说明这种方法的挑战。第一个母胎二元组涉及一名女性，她因脑膨出的错误诊断而被建议终止妊娠。后来她寻求第二种意见时，发现是脑脊膜膨出，孩子结局正常。第二个 vignette 涉及两次妊娠，期间均发现胎儿心脏横纹肌瘤，提示结节性硬化症（TSC）。一名女性未通过胎儿脑部 MRI 或尸检确诊就寻求到州外终止妊娠。第二名女性要求进行孕期护理及产后评估。她的成年子女经历了与 TSC 后遗症相关的挑战。第三个 vignette 涉及产前诊断为开放性神经管缺陷并伴有先天性多发性关节挛缩。尽管预后严重，这家人仍自费在另一家机构要求对缺陷进行产前手术闭合。随后的脊髓脊膜膨出管理研究（MOMS）不会推荐这种手术。他们的成年子女因全面发育迟缓、顽固性癫痫和自闭症而需要医疗护理。这三项评估都涉及不确定性，需要所有利益相关者共同做出临床决策。对结果的错误阴性或误导性阳性解读减少了获得最佳结局的机会。FNN 的诊断技能需要理解影响生殖的动态基因-环境相互作用，以及随后影响 MPF 三联体健康并产生胎儿神经可塑性后果的孕期暴露组。有毒应激源的相互作用会损害神经暴露组，表现为异常和/或破坏性的胎儿脑部病变。功能改善或永久性后遗症可能在整个生命周期中表现出来。为女性和家庭提供公平且富有同情心的医疗保健需要共同决策，以维护孕期健康，这要以特定个体的种族-民族、宗教和生物-社会视角为指导。将发育起源理论应用于神经学原理和实践，支持为每一代人中的所有人制定脑健康资本策略。
