Early diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction

Late first- or early second-trimester suspicion of GE cysts should trigger a transvaginal neurosonographic examination. The presence of early GE cysts appears to be associated with additional severe brain and extracranial anomalies, including fetal growth restriction. Comprehensive genetic testing is crucial for identifying underlying etiologies, which are often linked to mitochondrial dysfunction. © 2026 International Society of Ultrasound in Obstetrics and Gynecology.

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Publication Details

Journal
Ultrasound in Obstetrics and Gynecology
Published
2026-02-12
DOI
https://doi.org/10.1002/uog.70180
Primary Topic
Fetal and Pediatric Neurological Disorders
Type
article
Field-Weighted Citation Impact
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article

Early diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction

M. Brusilov, Roee Birnbaum, V. Lanzarone, Nandita Dimri et al.
Ultrasound in Obstetrics and Gynecology
Fetal and Pediatric Neurological Disorders
article

Early diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction

M. Brusilov, Roee Birnbaum, V. Lanzarone, Nandita Dimri, Fernando Nuez Viñals, Ann Quinton, Gadi Malinger, J. H. Ochoa, T. Weissbach, S. Gupta, M. Rybak‐Krzyszkowska, T.‐S. Vo, R. K. Pooh, R. Gupta, M. Levy, K. K. Haratz, D. Kidron
article en

Abstract

Late first- or early second-trimester suspicion of GE cysts should trigger a transvaginal neurosonographic examination. The presence of early GE cysts appears to be associated with additional severe brain and extracranial anomalies, including fetal growth restriction. Comprehensive genetic testing is crucial for identifying underlying etiologies, which are often linked to mitochondrial dysfunction. © 2026 International Society of Ultrasound in Obstetrics and Gynecology.

Ultrasound in Obstetrics and GynecologyVol. 67(3)
Indraprastha Apollo Hospitals (IN), Tel Aviv University (IL), University of Concepción (CL), Tel Aviv Sourasky Medical Center (IL), Sheba Medical Center (IL), Nepean Hospital (AU), Meir Medical Center (IL), Vinmec Times City International Hospital (VN), Sir Ganga Ram Hospital (IN), Ministry of Electronics and Information Technology (IN), Krakow Cardiovascular Research Institute (PL), Hindu College of Pharmacy (IN), Hospital Privado (AR), Central Queensland University (AU)
Openalex Percentile: Top 56%
Fetal and Pediatric Neurological Disorders
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