The science of uncertainty guides fetal-neonatal neurology principles and practice: diagnostic-prognostic opportunities and challenges

Abstract

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.

Executive Functioning and Language in a Pediatric Population with Autism Spectrum Disorders and Epilepsy: A Comparative Study

“…This could include a lack of access to specialized assessments and treatments, which could, in turn, delay identification and early intervention in children with specific needs, directly influencing their long-term cognitive and linguistic development. Similarly, by exploring the role of the neuronal exposome in childhood development according to Scher [ 66 ], we could reflect on how environmental exposures and stressors may interact with biological processes to influence brain development and ultimately cognitive and linguistic skills in children with ASD and epilepsy. This could involve considering how environmental pollution, prenatal stress, and other environmental factors may negatively impact brain development and cognitive function in this population, which could have significant consequences for their ability to acquire and develop language and other cognitive skills.…”

Interdisciplinary fetal-neonatal neurology training improves brain health across the lifespan

“…These experiences help the trainee learn shared clinical decisions through compassionate care. Learning the science of uncertainty is an essential educational component since prospective diagnostic decisions are provisionally based on limited information ( 24 ). Trainees are instructed to pursue greater retrospective understanding of each woman’s reproductive and pregnancy health histories based on additional information acquired at family meetings, supplemented by critical re-review of the medical records of parents, the pregnancy and their child.…”