1 型戊二酸血症的产前超声波和磁共振检查结果及其产前诊断中的挑战。

IF 0.9 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

Journal of Medical Ultrasound Pub Date : 2024-08-28 eCollection Date: 2024-07-01 DOI:10.4103/jmu.jmu_63_24

Jo-Ting Wang, Han-Jui Lee, Tung-Yao Chang

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引用次数: 0

摘要

戊二酸血症 1 型（GA1）给产前诊断带来了独特的挑战，尤其是在无家族史的病例中。这篇综述文章旨在回顾和介绍 GA1 的产前超声和磁共振检查结果，并对与 GA1 产前诊断相关的困难以及诊断过程中需要仔细鉴别的神经影像学特征进行深入分析。

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Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis.

Glutaric acidemia type 1 (GA1) presents unique challenges in prenatal diagnosis, especially in cases with no family history. This review article aims to review and present the prenatal ultrasound and magnetic resonance findings of GA1 and consolidate key insights into the difficulties associated with GA1 prenatal diagnosis and the neuroimaging features that require careful differentiation during the diagnostic process.

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来源期刊

Journal of Medical Ultrasound RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-

CiteScore

1.30

自引率

9.10%

发文量

审稿时长

10 weeks

期刊介绍： The Journal of Medical Ultrasound is the peer-reviewed publication of the Asian Federation of Societies for Ultrasound in Medicine and Biology, and the Chinese Taipei Society of Ultrasound in Medicine. Its aim is to promote clinical and scientific research in ultrasonography, and to serve as a channel of communication among sonologists, sonographers, and medical ultrasound physicians in the Asia-Pacific region and wider international community. The Journal invites original contributions relating to the clinical and laboratory investigations and applications of ultrasonography.