Publications by authors named "Gano D"

Clinicians may face an array of challenges in conducting fetal neurological consultations including prognostic uncertainty, a lack of training in fetal counseling, and limited opportunity to build rapport with families. In this setting, it is critical to employ high-quality, family-centered care to allow expectant parents to make informed decisions. Despite the challenges and gravity of these consultations, there remains limited data outlining best conduct and communication practices.

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Holoprosencephaly (HPE) is one of the most common malformations in embryonic development. HPE represents a continuum spectrum that involves the midline cleavage of forebrain structures. Facial malformations of varying degrees of severity are also observed.

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Social determinants of health are social, economic and environmental factors known to influence health and development of infants, children and adults. Advancing equity in brain health relies upon interdisciplinary collaboration and recognition of the impact of social determinants on brain health through the lifespan and across generations. Critical periods of fetal, infant and early childhood development encompass intrinsic genetic and extrinsic environmental influences with complex gene-environment interactions.

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Background: Congenital myotonic dystrophy type 1 (DM1) is a rare congenital neuromuscular disorder associated with high morbidity and potential early mortality requiring lifelong symptomatic management. Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement, but many cases of DM1 have no ultrasound anomalies.

Methods: We sought to compare the clinical course and prenatal imaging findings in two cases of DM1 using retrospective chart review.

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Background And Purpose: Schizencephaly is a rare brain anomaly which is increasingly detected in utero. There are limited data on the etiology and outcomes in fetal schizencephaly to guide workup and counselling. We aim to determine the associated imaging findings, etiology, and outcomes in schizencephaly detected in utero.

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Article Synopsis
  • - This study looked into how different MRI injury patterns in fetuses with intraparenchymal hemorrhage (IPH) relate to their causes and outcomes, using data from cases diagnosed between 1996 and 2022.
  • - Researchers analyzed 44 fetuses, noting that most IPH cases were supratentorial and often linked with conditions like twin-twin transfusion syndrome and certain genetic variants (COL4A1/2).
  • - The findings showed a high prevalence of neurological issues in surviving infants, with many developing cerebral palsy, developmental delays, and epilepsy, emphasizing the need for genetic evaluations in unexplained cases of fetal IPH.
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Cerebellar injury in preterm infants with central nervous system (CNS) hemorrhage results in lasting neurological deficits and an increased risk of autism. The impact of blood-induced pathways on cerebellar development remains largely unknown, so no specific treatments have been developed to counteract the harmful effects of blood after neurovascular damage in preterm infants. Here, we show that fibrinogen, a blood-clotting protein, plays a central role in impairing neonatal cerebellar development.

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Fetal cerebral ventriculomegaly is one of the most common fetal neurological disorders identified prenatally by neuroimaging. The challenges in the evolving landscape of conditions like fetal cerebral ventriculomegaly involve accurate diagnosis and how best to provide prenatal counseling regarding prognosis as well as postnatal management and care of the infant. The purpose of this narrative review is to discuss the literature on fetal ventriculomegaly, including postnatal management and neurodevelopmental outcome, and to provide practice recommendations for pediatric neurologists.

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Fetal neurology encompasses the full spectrum of neonatal and child neurology presentations, with complex additional layers of diagnostic and prognostic challenges unique to the specific prenatal consultation. Diverse genetic and acquired etiologies with a range of potential outcomes may be encountered. Three clinical case presentations are discussed that highlight how postnatal phenotyping and longitudinal follow-up are essential to address the uncertainties that arise in utero, after birth, and in childhood, as well as to provide continuity of care.

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Article Synopsis
  • This study examines how brain morphologic changes during the third trimester of pregnancy relate to neurodevelopment outcomes in preterm infants.
  • Researchers analyzed MRI scans of preterm neonates to derive a predicted brain age (PBA) and found that it correlates with postnatal health and developmental scores.
  • The findings suggest that using brain morphology for age prediction can aid in identifying potential developmental issues early, helping to improve interventions for at-risk infants.
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Importance: Parents who experience neonatal loss have the option to participate in autopsy, organ donation, and research donation. However, clinicians are uncomfortable discussing autopsy and may not be aware of research and organ donation opportunities.

Objective: To capture the perspectives of parents who had experienced neonatal loss about autopsy, organ donation, and research donation.

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Fetal Neurology continues to grow as a distinct subspecialty informed by evolving precision diagnosis with advancements in prenatal neuroimaging, genetic and infectious testing. While there are inherent limitations and challenges in prenatal diagnostic testing and prognostic counseling, the interdisciplinary approach allows comprehensive guidance for perinatal and postnatal management of neurological disorders detected early in development. The current practice of fetal neurology is heterogenous and variable across centers.

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Background: COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal and neonatal intracranial hemorrhage, porencephaly, and schizencephaly. Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders are not well characterized.

Methods: This is a retrospective case series of fetal MRI findings in eight patients with intraparenchymal hemorrhage (IPH) and COL4A1/A2 variants, five of whom have postnatal imaging and clinical follow-up.

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Background: Fetal neurology is a rapidly evolving field. Consultations aim to diagnose, prognosticate, and coordinate prenatal and perinatal management along with other specialists and counsel expectant parents. Practice parameters and guidelines are limited.

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