{"title":"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。","authors":"Jo-Ting Wang, Han-Jui Lee, Tung-Yao Chang","doi":"10.4103/jmu.jmu_63_24","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414954/pdf/","citationCount":"0","resultStr":"{\"title\":\"Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis.\",\"authors\":\"Jo-Ting Wang, Han-Jui Lee, Tung-Yao Chang\",\"doi\":\"10.4103/jmu.jmu_63_24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":45466,\"journal\":{\"name\":\"Journal of Medical Ultrasound\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414954/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Ultrasound\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jmu.jmu_63_24\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/7/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Ultrasound","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jmu.jmu_63_24","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
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.
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.
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