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

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

doi:10.4103/jmu.jmu_63_24

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

J Med Ultrasound. 2024 Aug 28;32(3):202-208. doi: 10.4103/jmu.jmu_63_24. eCollection 2024 Jul-Sep.

Authors

Jo-Ting Wang¹, Han-Jui Lee^{2

3}, Tung-Yao Chang¹

Affiliations

¹ Department of Fetal Medicine, Taiji Clinic, Taipei, Taiwan.
² Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan.
³ School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Abstract

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.

Keywords: Fetal magnetic resonance imaging; Sylvian fissure; glutaric acidemia type 1; prenatal ultrasound.

Publication types

Review