Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
Abnormalities, Multiple
/ diagnostic imaging
Adult
Cerebellar Vermis
/ abnormalities
Cerebellum
/ abnormalities
Eye Abnormalities
/ diagnostic imaging
Female
Gestational Age
Humans
Kidney Diseases, Cystic
/ diagnostic imaging
Magnetic Resonance Imaging
Multimodal Imaging
Nervous System Malformations
/ diagnostic imaging
Neuroimaging
Pregnancy
Prenatal Diagnosis
/ methods
Retina
/ abnormalities
Retrospective Studies
Rhombencephalon
/ abnormalities
Severity of Illness Index
Ultrasonography, Prenatal
aqueductal stenosis
cerebellum
fetus
prenatal diagnosis
rhombencephalosynapsis
vermis
Journal
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
ISSN: 1469-0705
Titre abrégé: Ultrasound Obstet Gynecol
Pays: England
ID NLM: 9108340
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
revised:
24
03
2021
received:
20
01
2021
accepted:
16
04
2021
pubmed:
5
5
2021
medline:
28
12
2021
entrez:
4
5
2021
Statut:
ppublish
Résumé
To describe the prenatal neuroimaging spectrum of rhombencephalosynapsis (RES) and criteria for its classification according to the severity of vermian anomaly. In this multicenter retrospective study of fetuses with RES between 2002 and 2020, the medical records and brain ultrasound and magnetic resonance images were evaluated comprehensively to determine the severity of the vermian anomaly and the presence of associated brain findings. RES was classified, according to the pattern of vermian agenesis and the extent of the fusion of the hemispheres, as complete RES (complete absence of the vermis) or partial RES (further classified according to the part of the vermis that was missing and, consequently, the region of hemispheric fusion, as anterior, posterior, severe or mixed RES). Findings were compared between cases with complete and those with partial RES. Included in the study were 62 fetuses with a gestational age ranging between 12 and 37 weeks. Most had complete absence of the vermis (complete RES, 77.4% of cases), a 'round-shaped' cerebellum on axial views (72.6%) and a transverse cerebellar diameter (TCD) < 3 This study provides prenatal neuroimaging criteria for the diagnosis and classification of RES, and identification of related features, using ultrasound and magnetic resonance imaging. According to our findings, a diagnosis of RES should be considered in fetuses with a small TCD (severe cerebellar hypoplasia) and/or a round-shaped cerebellum on axial views, during the second or third trimester, especially when associated with ventriculomegaly. Partial RES is more common than previously thought, but presents an extreme diagnostic challenge, especially in cases with normal or nearly-normal cerebellar morphobiometric features. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
Types de publication
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
864-874Informations de copyright
© 2021 International Society of Ultrasound in Obstetrics and Gynecology.
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