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Open research questions in Fetal and Pediatric Neurological Disorders

128 gap statements mined from Fetal and Pediatric Neurological Disorders papers in our 4.5M-paper local library, which holds 544 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • The effectiveness of 2D and 3D ultrasound for fetal anatomy assessment in the first trimester is not well established. Prior studies have focused on the second trimester, leaving a gap in knowledge for the first trimester.

    Sonographic Assessment of Fetal Anatomy in the First Trimester: A Comparative Study of Visualization Rates Using Two- and Three-Dimensional Ultrasound · 2026 · DOI

  • Clinical validation remains limited. Model performance was primarily compared with other AI-based approaches, and not with expert radiologist assessments, multidisciplinary prenatal review, or established clinical GA assessment workflows. The reported results should be interpreted primarily as technical performance rather than evidence of clinical superiority or workflow benefit.

    MRI-based fetal gestational age estimation using a structure-aware self-supervised network · 2026 · DOI

  • The current literature lacks normative volumetric studies of the mid-gestational posterior fossa. Prior work has focused on linear diameter measurements, which may not be sufficient for detecting subtle differences in brain development. There is a need for a framework for the quantitative benchmarking of cerebellar and brainstem growth.

    Comment on “super-resolution MRI–derived brainstem and cerebellar volumes in fetuses between 22 weeks and 32 weeks of gestation” · 2026 · DOI

  • The study faced challenges in terms of image quality, with the need for careful quality control to ensure accurate predicted brain age estimation. The pipeline's performance may be affected by participant characteristics, such as age and sex. The study highlights the importance of considering these potential factors contributing to the systematic overestimation of predicted brain age.

    Methodological limitations of the BrainStructureAges pipeline from the volBrain platform: a brief report of the normative pediatric group · 2026 · DOI

  • Genetic explanations for uPMG are found at comparable rates to bilateral PMG, suggesting that germline testing for this unique presentation is warranted.

    Diverse Genetic Etiologies of Unilateral Polymicrogyria · 2026 · DOI

  • However, whether gyral simpflication scales to reduced brain volume, and if MRI features predict clinical outcome still remains unclear.

    Microcephaly with Simplified Gyral Pattern in Children: Quantitative Morphometric Assessment on Brain MRI and Correlation with Clinical Outcome · 2026 · DOI

  • HIGHLIGHTS: 1 Neurodevelopmental differences between fetuses of pregnant women with gestational diabetes mellitus and in healthy pregnancies remain uncertain.

    Comparison of Diffusion-Weighted Magnetic Resonance Imaging of the Fetal Brain in Pregnant Women with Gestational Diabetes Mellitus and in Normal Fetuses: A Matched Case-Control Study · 2026 · DOI

  • However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling.

    Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome? · 2026 · DOI

  • Although cognitive and executive function deficits have been described, their early trajectory is not well understood.

    Cognitive stagnation and executive function deficits in young children with SCN1A + Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study · 2025 · DOI

  • Labyrinthine and cerebellar signal abnormalities have not been previously reported in the context of Norrie Disease.

    Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities · 2025 · DOI

  • The pathophysiological mechanisms of how pathogenic variants in VRK1 alter normal cortical and pontocerebellar development remain elusive.

    Insights in the underlying pathophysiology of brain malformations associated with VRK1-related syndrome derived from fetal neuropathology · 2025 · DOI

  • Nevertheless, all phenotypes linked to VRK1 pathogenic variants have been associated with neurological impairment, and the pathophysiological mechanism of this restriction to the nervous system remains poorly understood.

    Insights in the underlying pathophysiology of brain malformations associated with VRK1-related syndrome derived from fetal neuropathology · 2025 · DOI

  • Our exploration of the evolutionary patterns manifest in each brain area and developmental stage provides important reference points for further research into primate brain evolution.

    Divergent Evolutionary Rates of Primate Brain Regions as Revealed by Genomics and Transcriptomics · 2024 · DOI

  • Although the primate brain contains numerous functionally distinct structures that have experienced diverse genetic changes during the course of evolution and development, these changes remain to be explored in detail.

    Divergent Evolutionary Rates of Primate Brain Regions as Revealed by Genomics and Transcriptomics · 2024 · DOI

  • The 10th week of gestational age (GA) is a critical period for evaluating brain development, but there is limited knowledge regarding the specific characteristics at this GA.

    Mapping Fetal Brain Development of 10 Weeks’ Gestational Age with 9.4T Postmortem MRI and Histologic Sections · 2024 · DOI

  • There are limited data on the etiology and outcomes in fetal schizencephaly to guide work-up and counseling.

    Fetal MRI Findings, Etiology, and Outcome in Prenatally Diagnosed Schizencephaly · 2024 · DOI

  • It is linked to ventriculomegaly and aqueductal stenosis but other associations have not been systematically examined.

    Mesencephalosynapsis and aqueductal stenosis · 2024 · DOI

  • Cases of HPE bearing white matter abnormalities have not been well documented, with only rare cases exhibiting hypoxic-ischemic damage.

    Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series · 2024 · DOI

  • PNH associated with cerebellar hypodysgenesis (CHD) and malformation of cortical development (MCD) involving the mesial temporal lobes, without detectable FLNA variants, is a known, but under-reported, association.

    Periventricular Nodular Heterotopia, Cerebellar Hypodysgenesis, and Mesial Temporal Malformation Detected on Fetal MRI: An Underrecognized Association · 2026 · DOI

  • However, data on SEEG-guided THC in these patients still have not been described.

    Stereoelectroencephalographic thermocoagulation in FLNA ‐positive heterotopia: Is it an effective treatment? · 2024 · DOI

  • Providing accurate prenatal prognostication for expectant parents is challenging due to limited literature on factors impacting outcomes in children with congenital aqueductal stenosis (CAS).

    Short‐ and Long‐Term Outcomes of Prenatally Identified Congenital Aqueductal Stenosis by Fetal MRI · 2024 · DOI

  • Prospective multicenter validation with independent manual segmentation reliability data - Sex-stratified reference curves - A broader gestational range extending beyond 32…

    Comment on “super-resolution MRI–derived brainstem and cerebellar volumes in fetuses between 22 weeks and 32 weeks of gestation” · 2026 · DOI

  • Limited by sequence characteristics and magnetic field strength - Diagnostic ability to demonstrate early anomalies of cortical development remains limited - Retrospectively selected cases - Evaluated using a 1.5-T MRI…

    Laminar pattern disruption in fetal incipient polymicrogyria: insights from post-mortem magnetic resonance imaging and neuropathological correlation · 2026 · DOI

  • Higher-field 3-T MRI systems optimized for fetal imaging - Improve the signal-to-noise ratio (SNR), with increased spatial and temporal resolution - Providing better anatomical detail and reducing motion-related…

    Laminar pattern disruption in fetal incipient polymicrogyria: insights from post-mortem magnetic resonance imaging and neuropathological correlation · 2026 · DOI

  • Further studies are needed to validate the BrainStructureAges pipeline in different age ranges and populations, - Research should investigate the relationship between brain age delta and cognitive or neurological outcomes, - Studies should explore the use of brain age as a marker of brain maturation or neurodegeneration in various neurological…

    Methodological limitations of the BrainStructureAges pipeline from the volBrain platform: a brief report of the normative pediatric group · 2026 · DOI

Most-cited papers in Fetal and Pediatric Neurological Disorders

Most recent work

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Open questions raised by papers listed on this page include: (1) The effectiveness of 2D and 3D ultrasound for fetal anatomy assessment in the first trimester is not well established (“Sonographic Assessment of Fetal Anatomy in the First Trimester: A Comparative…”, 2026); (2) There is a need for a framework for the quantitative benchmarking of cerebellar and brainstem growth (“Comment on “super-resolution MRI–derived brainstem and cerebellar volumes in…”, 2026); (3) Genetic explanations for uPMG are found at comparable rates to bilateral PMG, suggesting that germline testing for this unique presentation is warranted (“Diverse Genetic Etiologies of Unilateral Polymicrogyria”, 2026); (4) Whether gyral simpflication scales to reduced brain volume, and if MRI features predict clinical outcome still remains unclear (“Microcephaly with Simplified Gyral Pattern in Children: Quantitative…”, 2026); (5) The mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling (“Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental…”, 2026). 128 gap statements have been mined from Fetal and Pediatric Neurological Disorders papers in our 4.5M-paper local library, which holds 544 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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