Trial reportAJNR. American journal of neuroradiology2010
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.
Trial report in AJNR. American journal of neuroradiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 56 citations in OpenAlex.
- Medical Augmentation (Med-Aug) for Optimal Data Augmentation in Medical Deep Learning Networks.Sensors (Basel, Switzerland) · 2021Article
- Visual Illusions in Radiology: Untrue Perceptions in Medical Images and Their Implications for Diagnostic Accuracy.Frontiers in neuroscience · 2021Review
- Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development.Pediatric radiology · 2020Review
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.BioMed research international · 2018Article
- [Prenatal diagnosis of Joubert syndrome:one case report and literature review].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2017Review
- Diagnostic Value of Prenatal MR Imaging in the Detection of Brain Malformations in Fetuses before the 26th Week of Gestational Age.AJNR. American journal of neuroradiology · 2016Article
- Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.Cerebellum (London, England) · 2016Review
- Joubert syndrome in a neonate: case report with literature review.Sudanese journal of paediatrics · 2016Article
- Fetal MRI: An approach to practice: A review.Journal of advanced research · 2014Review
- Joubert syndrome: congenital cerebellar ataxia with the molar tooth.The Lancet. Neurology · 2013Review
- Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.The Lancet. Neurology · 2013Review
- Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.Journal of the Turkish German Gynecological Association · 2012Article
- New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.American journal of medical genetics. Part A · 2011Article
- The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Developmental medicine and child neurology · 2011Review
- Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.Nature medicine · 2011Article
- Joubert Syndrome and related disorders.Orphanet journal of rare diseases · 2010Review
- Development Delay in a Child with Microcephaly and Birth Asphyxia: Explore Diagnosis beyond Hypotonic Cerebral Palsy.Journal of pediatric neurosciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeJSRD are rare autosomal recessive brain malformations. We hypothesized that MR imaging can assess fetuses at risk for JSRD and might influence their diagnoses. MATERIALS AND
methodsWe prospectively performed cranial MR imaging for 12 fetuses (mean GA, 23 weeks; SD, 3.7) at 25% recurrence risk for JSRD. We correlated prenatal MR imaging findings with postnatal MR imaging and clinical outcome. Retrospectively, we compared posterior fossa measurements of the cases with those of 24 age-matched fetuses with proved normal brain MR imaging. Institutional review board approval and consents were obtained. Statistical methods included a t test and ANCOVA tests.
resultsFetal MR imaging correctly diagnosed 3 cases at 22, 28, and 29 weeks of gestation as JSRD, and 9 cases as normal. In JSRD-affected fetuses, prenatal MR imaging detected narrow pontomesencephalic junction (isthmus) with deepening of the interpeduncular fossa and thick horizontally placed superior cerebellar peduncles (MTS), deformed anteriorly convex floor of the fourth ventricle, and midline cerebellar cleft in place of the hypoplastic vermis. Measurements on axial fetal MR imaging at pontomesencephalic junction, ratio of AP diameters of interpeduncular fossa to midbrain/isthmus, and ratio of the AP to transverse diameters of the fourth ventricle were significantly higher in JSRD-affected fetuses than in nonaffected cases and the control group.
conclusionsMR imaging can diagnose JSRD in at-risk pregnancies by detecting posterior fossa signs. Measurements at the pontomesencephalic junction may enhance fetal MR imaging accuracy in diagnosing JSRD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.