Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

Bartholmot, Caroline; Cabet, Sara; Massoud, Mona; Massardier, Jérôme; Fichez, A.; Portes, Vincent Des; Guibaud, Laurent

doi:10.1159/000512953

Cited by 8 publications

(13 citation statements)

References 63 publications

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“…IHC and PL are known to cause obstruction of the commissural fibers responsible for the abnormalities of the CC. 43 These abnormalities carry a better prognosis, 21,44 which is in keeping with the absence of pES abnormality. The diagnosis of PL is suspected on US in cases of pericallosal hyperechogenicity associated with the abnormalities of the CC.…”

Section: Discussionmentioning

confidence: 85%

“…We recently evaluated the contribution of pES for the diagnostic work-up of abnormalities of the CC. 18 In addition to genetic abnormalities, it has been suggested that the type of abnormality of the CC could also impact the prognosis, 1,[19][20][21] but due to different and unclear definitions in the literature, this point needs to be clarified. Thus, prenatal imaging and genetic testing are pivotal for prenatal counseling to better inform patients about the neurodevelopmental prognosis as early as possible.…”

Section: Introductionmentioning

confidence: 99%

“…In addition to genetic abnormalities, it has been suggested that the type of abnormality of the CC could also impact the prognosis, 1,19–21 but due to different and unclear definitions in the literature, this point needs to be clarified.…”

Section: Introductionmentioning

confidence: 99%

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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype

Nguyen,

Heide,

Guilbaud

et al. 2023

Prenatal Diagnosis

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Objective: Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The objective of this study was to compare imaging phenotype and genotype findings.Method: This multicenter retrospective study included fetuses with abnormalities of the CC between 2018 and 2020 by ultrasound and/or MRI and for which pES was performed. Abnormalities of the CC were classified as complete (cACC) or partial (pACC) agenesis of the CC, short CC (sCC), callosal dysgenesis (CD), 746

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Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype

Nguyen,

Heide,

Guilbaud

et al. 2023

Prenatal Diagnosis

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“…Reference charts for fetal CC length based on gestational age can be found elsewhere 17,19 . Short CC is defined as reduced CC length, less than or equal to the first percentile 20 …”

Section: Normal Appearance Of CC In Prenatal Us and Mrimentioning

confidence: 99%

“…17,19 Short CC is defined as reduced CC length, less than or equal to the first percentile. 20 New methods are also proposed to determine the normality of CC length without using reference charts for gestational age. The ratio between the CC length and the internal cranial occipitofrontal dimension (ICOFD/CC) is unchanged during a normal pregnancy (2.35 ± 0.11) and this ratio is increased (mean ratio: 3.20 ± 0.84) in fetuses with short CC.…”

Section: Normal Appearance Of CC In Prenatal Us and Mrimentioning

confidence: 99%

Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role

Moradi

Taherian

Tahmasebpour³

et al. 2022

J of Clinical Ultrasound

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The corpus callosum (CC) is the major interhemispheric commissure and its abnormalities include agenesis, hypoplasia, and hyperplasia. The CC anomalies are typically related to other central nervous system (CNS) or extra-CNS malformations.The antenatal diagnosis of complete CC agenesis is easy after mid-trimester by ultrasound (US) even in the axial plane. The non-visualization of cavum septum pellucidum and colpocephaly are critical signs in the axial view. More subtle findings (i.e., hypoplasia and partial agenesis) might also be recognized antenatally. In this review, the focus was given on the prenatal diagnosis of CC abnormalities in US and magnetic resonance imaging.

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Spectrum of brain malformations in fetuses with mild tubulinopathy

Hagege

Haratz

Malinger

et al. 2023

Ultrasound in Obstet & Gyne

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Objective To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis. Methods This was a retrospective multicenter study of fetuses diagnosed between January 2007 and February 2022 with a mild tubulinopathy (without lissencephaly or microlissencephaly). We collected and reviewed brain imaging and genetic data, and defined major criteria as findings observed in ≥ 70% of the patients and minor criteria as those observed in ≥ 50% but < 70% of the patients. Results Our cohort included 34 fetuses. The mean gestational age at ultrasound screening, when suspicion of a central nervous system anomaly was first raised, was 24.2 (range, 17–33) weeks. Callosal anomalies (n = 19 (56%)) and abnormal ventricles (n = 18 (53%)) were the main reasons for referral. The mean gestational age at neurosonography was 28.3 (range, 23–34) weeks and that at MRI was 30.2 (range, 24–35) weeks. Major ultrasound criteria were midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation. Minor ultrasound criteria were distortion of the cavum septi pellucidi, abnormal corpus callosum, absent or asymmetric olfactory sulci, ventriculomegaly and basal ganglia dysmorphism. Major MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation (generally unilateral) and/or distortion, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation (mainly dysgyria). Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons ≤ 5th centile and brainstem asymmetry. A mutation was found in TUBB3 (44.1% of cases), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.6%). The mutation was inherited from a parent in 18/34 cases. The pregnancy was terminated in 23/34 cases. Conclusions Prenatal diagnosis of mild forms of tubulinopathy is possible but challenging. We have defined, in this large series of fetuses, major and minor criteria that can help identify this entity in utero. Most findings can be visualized on ultrasound. This evaluation is also important for prenatal counseling. Once a prenatal diagnosis of mild tubulinopathy is suspected, the family members should be referred for exome sequencing and MRI. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

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Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

Cited by 8 publications

References 63 publications

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype

Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role

Spectrum of brain malformations in fetuses with mild tubulinopathy

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