Editorial: Prenatal diagnosis and follow up of children with CNS abnormalities diagnosed in uterus

Barbara Scelsa^1,2*Jeanine Van Klink³Chiara Doneda⁴Mariano Lanna⁵

• ¹Department of child neurology, Buzzi Children’s Hospital, Milan, Italy
• ²Ospedale dei Bambini Vittore Buzzi, Milan, Italy
• ³Department of Neonatology, Universiteit Leiden, Leiden, Netherlands
• ⁴Department of Pediatric Radiology and Neuroradiology, Buzzi Children’s Hospital, Milan, Italy
• ⁵Fetal Therapy Unit "U Nicolini", Buzzi Children’s Hospital, Milan, Italy

The article by Smita Roychoudhury et al. explores another emerging frontier: the role of environmental stressors in shaping neurodevelopmental outcomes in preterm infants. Their study draws intriguing connections between the timing of conception and long-term neurodevelopment, suggesting that month-ofconception may result in environmental exposures with potential impact on the fetus. This hypothesis could lay the groundwork for new strategies to mitigate modifiable prenatal stressors and improve outcomes in preterm populations (9). Nutritional influences on brain development are explored by Ruolan Hu and colleagues in a meta-analysis evaluating the role of prenatal and early postnatal supplementation of docosahexaenoic acid (DHA). Malnutrition and micronutrient deficiencies-often overlooked in developed countries-remain key contributors to altered neurodevelopment, not only in infancy but in the intrauterine environment as well. While the benefits of DHA are increasingly supported, the review calls for more rigorous, placebo-controlled trials to assess the efficacy of DHA. (10).An additional level of complexity is addressed in the article by Bersani I et al. focusing on genetic predispositions to intracranial hemorrhage. Variants in genes such as COL4A1 have been implicated in cases of perinatal intracranial bleeding and many of these events likely originate in utero. As our understanding of the genetic architecture of fetal brain vulnerability evolves, so does the need to explore how genetic factors interact with the external environment to shape individual trajectories. There remains much to learn about how stressors-both internal and external-converge to influence the timing and severity of neurological injury (11).Looking ahead, the landscape of child neurology is ready to undergo a profound transformation. Earlier and more precise diagnoses during pregnancy, paired with emerging therapeutic strategies-including stem cell therapies, in utero surgical interventions, and enzyme/gene therapies-will redefine what is possible. As interventions shift earlier in gestation, postnatal management will also need to adapt. Children with conditions diagnosed and potentially treated in utero may follow neurodevelopmental trajectories markedly different from historical cohorts (12).A recent survey highlights the heterogeneity in clinical practice, reinforcing the urgent need for standardized guidelines, shared protocols, and national or international registries to collect meaningful long-term outcome data in fetal neurology. Notably, these advances require a fundamental shift in medical training. Pediatric neurologists must become familiar with fetal imaging, genetics, intrauterine interventions, and the ethics of prenatal counseling (13). Formal training programs in fetal neurology-structured, interdisciplinary, and evidence-based-are no longer optional but essential. In conclusion, fetal neurology represents one of the most dynamic and promising frontiers in our field. Its development will not only improve early diagnosis and counseling but also pave the way for timely, targeted therapies that begin before birth. The future of pediatric neurology begins in utero. However, despite major advances in prenatal imaging and genetics, our understanding of fetal CNS abnormalities remains incomplete. One of the research gaps in the literature is the predominance of small, heterogeneous cohorts, often with shortterm, non-standardized follow-up. Given the rarity of many isolated malformations, the creation of large, single-center cohorts remains a challenge. Collaborative efforts, including multicenter registries and longitudinal studies, are urgently needed to generate reliable prognostic data and inform evidence-based counseling.