The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.

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Tác giả: Ladawna Gievers, Sheevaun Khaki, Amanda J H Kim, Michael A Phillipi, Michael F Regner

Ngôn ngữ: eng

Ký hiệu phân loại: 283.3 Branches not in communion with the See of Canterbury

Thông tin xuất bản: United States : American journal of perinatology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 60931

OBJECTIVE: This study aimed to determine the prevalence of septo-optic dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC), or dysgenesis of the corpus callosum (DCC). STUDY DESIGN: This retrospective chart review investigated neonates prenatally diagnosed with an absent CSP, ACC, or DCC who were admitted to a single quaternary academic medical center in the Pacific Northwest between 2016 and 2023. This prenatal diagnosis prompted a routine and protocolized postnatal workup for SOD including laboratory evaluation, imaging, and specialty consultation. Sociodemographic and clinical data were collected for eligible neonates and their birthing persons. The prevalence of SOD in patients with midline callososeptal anomalies was calculated. RESULTS: Of the 86 patients prenatally diagnosed with absent CSP, ACC, and/or DCC, 36.0% ( CONCLUSION: SOD was diagnosed in 36.0% of cases of prenatally diagnosed midline callososeptal anomalies. For patients with prenatally diagnosed midline callososeptal anomalies, a standardized, postnatal SOD evaluation allows timely diagnosis and prompts early intervention and hormone replacement, thus avoiding the consequences of a delayed diagnosis. KEY POINTS: · Thirty-six percent of patients with midline callososeptal anomalies were diagnosed with SOD.. · Most patients (71.0%) diagnosed with SOD had optic nerve hypoplasia without pituitary abnormalities.. · Although most patients received genetic testing, no findings were linked to SOD..
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