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产前神经学诊断:神经影像学、预后咨询及神经发育结局预测的挑战。

Prenatal Neurological Diagnosis: Challenges in Neuroimaging, Prognostic Counseling, and Prediction of Neurodevelopmental Outcomes.

机构信息

Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Division of Pediatric Neurology, Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts; Department of Pediatrics, Tufts University School of Medicine, Boston, Massachusetts.

出版信息

Pediatr Neurol. 2023 May;142:60-67. doi: 10.1016/j.pediatrneurol.2023.02.013. Epub 2023 Feb 24.

Abstract

Prenatal diagnosis of fetal brain abnormalities is rapidly evolving with the advancement of neuroimaging techniques, thus adding value to prognostic counseling and perinatal management. However, challenges and uncertainties persist in prenatal counseling due to limitations of prenatal imaging, continued development and maturation of the brain structure, and the heterogeneity and paucity of outcome studies. This topical review of fetal neurological consultations highlights prenatally diagnosed brain abnormalities that challenged prognostic counseling and perinatal management. Representative cases across multiple centers that highlighted diagnostic challenges were selected. Charts were reviewed for neuroimaging, genetic evaluation, prenatal prognostic discussion, postnatal imaging and testing, and infant outcome. We present case studies with prenatal and postnatal information discussing prenatal testing, fetal MRI interpretation, and complexities in the prognostic counseling process. Advocating for large-scale multicenter studies and a national collaborative fetal neurological registry to help guide the ever-expanding world of prenatal diagnostics and prognostic counseling is critical to this field. Study of large-scale outcomes data from such a registry can better guide fetal neurological consultations and facilitate comprehensive multidisciplinary planning and program development for educational curriculum for fetal-neonatal neurology.

摘要

产前诊断胎儿脑异常随着神经影像学技术的进步而迅速发展,因此为预后咨询和围产期管理增添了价值。然而,由于产前成像的局限性、脑结构的持续发育和成熟、以及结局研究的异质性和缺乏,产前咨询仍然存在挑战和不确定性。本专题的胎儿神经学咨询回顾强调了产前诊断的脑异常,这些异常对预后咨询和围产期管理提出了挑战。选择了多个中心的具有代表性的病例,突出了诊断挑战。对神经影像学、遗传评估、产前预后讨论、产后影像学和检测以及婴儿结局进行了图表审查。我们提出了具有产前和产后信息的病例研究,讨论了产前检测、胎儿 MRI 解读以及预后咨询过程中的复杂性。倡导开展大规模多中心研究和全国性的胎儿神经学登记处,以帮助指导不断扩展的产前诊断和预后咨询领域,这对该领域至关重要。从这样的登记处研究大规模的结局数据可以更好地指导胎儿神经学咨询,并促进胎儿-新生儿神经学的全面多学科规划和课程发展。

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