An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum

Bayram, Ayşe Kaçar; Kütük, Mehmet Serdar; Doğanay, Selim; Özgün, Mahmut Tuncay; Gümüş, Hakan; Başbuğ, Mustafa; Kumandaş, Sefer; Canpolat, Mehmet; Per, Hüseyin

doi:10.1007/s10072-019-04224-4

Cited by 15 publications

(28 citation statements)

References 24 publications

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“…In 80% of cases, cAgCC appears associated with distinct brain developmental syndromes (Krupa and Bekiesinska-Figatowska, 2013) and rarely as an isolated defect (Paul et al, 2007;Raybaud, 2010). Sixty-five to 75% of isolated cAgCC cases show no apparent neurological defects (Santo et al, 2012;Bayram et al, 2020). When defects are present, they are frequently related to motor difficulties, deficits in problem solving, social skills or language problems (Marsh et al, 2018;Edwards et al, 2014;Hearne et al, 2019).…”

Section: Neurodevelopmental Defects In the Human Corpus Callosummentioning

confidence: 99%

Development and plasticity of the corpus callosum

2020

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The corpus callosum (CC) connects the cerebral hemispheres and is the major mammalian commissural tract. It facilitates bilateral sensory integration and higher cognitive functions, and is often affected in neurodevelopmental diseases. Here, we review the mechanisms that contribute to the development of CC circuits in animal models and humans. These species comparisons reveal several commonalities. First, there is an early period of massive axonal projection. Second, there is a postnatal temporal window, varying between species, in which early callosal projections are selectively refined. Third, sensory-derived activity influences axonal refinement. We also discuss how defects in CC formation can lead to mild or severe CC congenital malformations.

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Section: Neurodevelopmental Defects In the Human Corpus Callosummentioning

confidence: 99%

Development and plasticity of the corpus callosum

2020

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“… 8 , 11 , 29 In recent years, several studies attempted to define the long‐term neurodevelopmental outcome in subjects with a prenatal diagnosis of isolated ACC. 8 , 9 , 10 , 11 , 12 , 13 , 14 Nevertheless, most of them showed several limitations such as lack of fetal MRI (only fetal US was performed), little detailed and standardized cognitive and neuropsychological assessment, and short follow‐up (preschool age) or length of follow‐up not precisely mentioned. 2 , 4 , 5 , 8 , 9 , 10 , 11 , 12 , 13 , 14 Consequently, despite an overall good outcome in over 70% of the cases, children presenting with mild impairment may be missed if not followed up long enough.…”

Section: Discussionmentioning

confidence: 99%

“… 2 , 3 , 4 , 5 , 6 , 7 However, an appropriate and satisfactory answer to this has not been provided yet, as such studies presented with one or more major drawbacks preventing random unbiased recruitment such as, for example, small sample size, limited clinical follow‐up, prenatal diagnosis based on ultrasonography (US) only, or case selection based on postnatal imaging. 2 , 5 , 6 , 8 , 9 , 10 , 11 , 12 , 13 , 14 Since most skills—that is, language and executive functions—can be fully assessed only during school age, a long‐term follow‐up with a detailed assessment and appropriate instruments is necessary to properly establish neurodevelopmental outcomes in these patients. 2 , 3 , 4 , 5 , 6 , 7 If suspect findings are found at US screening, fetal magnetic resonance imaging (MRI) is the gold standard for accurate prenatal neurological diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

Romaniello

Arrigoni

Salvo

et al. 2021

Ann Clin Transl Neurol

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Objective: This long-term retrospective follow-up study aimed to address the knowledge gap between prenatal diagnosis of complete isolated Agenesis of Corpus Callosum (cACC) at fetal MRI and postnatal neurodevelopmental outcome to improve prenatal counseling for parents. Methods: Data on fetuses with isolated cACC from a single-center MRI database built up in two decades were considered. Detailed postnatal clinical, neuropsychological evaluations were performed and descriptions of available neuroradiological and genetic data were provided. Results: Following a detailed neuropsychological evaluation and a long-term follow-up, the subsequent results emerged: 38 school-aged children (older than 6 years) of 50 (aged 2.5-15 years) showed normal intellectual functions (50%), intellectual disability (21%), and borderline intelligence quotient (29%). Deficits in motor functions (58%), executive functions (37%), language (61%), memory abilities (58%), and academic performances (53%) were found. Twenty-one percent of participants showed behavioral difficulties. Almost half of the participants underwent rehabilitation. Additional findings (21%) were detected at postnatal brain MRI, and a significant association between additional findings at postnatal imaging and abnormal neurodevelopmental outcome was observed. Interpretations: This study supports the view that children with prenatal diagnosis of isolated cACC may present with several degrees of neurologic and neuropsychological impairment which become more evident only in their second decade of life. Postnatal MRI and detailed genetic analysis may add crucial information to prenatal data and substantially influence final judgment on the outcome and orient clinical management and counseling.

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“…The corpus callosum (CC) is the main cerebral commissure in placental mammals and plays a key role in communication between the two brain hemispheres (left and right). 1 Corpus callosum abnormality (CCA) is relatively common brain malformation with estimated prevalence of 9.4 per 10,000 live births, 2 generally resulting in mild to severe intellectual disability, epilepsy, and behavioral difficulties. 3 There is no standard treatment scheme for CCA.…”

Section: Introductionmentioning

confidence: 99%

Prenatal genetic testing in 19 fetuses with corpus callosum abnormality

She

Tang

Cui

et al. 2021

Clinical Laboratory Analysis

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Background Corpus callosum abnormality (CCA) can lead to epilepsy, moderate severe neurologic or mental retardation. The prognosis of CCA is closely related to genetic etiology. However, copy number variations (CNVs) associated with fetal CCA are still limited and need to be further identified. Only a few scattered cases have been reported to diagnose CCA by whole exome sequencing (WES). Methods Karyotyping analysis, copy number variation sequencing (CNV‐seq), chromosomal microarray analysis (CMA) and WES were parallelly performed for prenatal diagnosis of 19 CCA cases. Results The total detection rate of karyotyping analysis, CMA (or CNV‐seq) and WES were 15.79% (3/19), 21.05% (4/19) and 40.00% (2/5), respectively. Two cases (case 11 and case 15) were diagnosed as aneuploidy (47, XY, + 13 and 47, XX, + 21) by karyotyping analysis and CNV‐seq. Karyotyping analysis revealed an unknown origin fragment (46,XY,add(13)(p11.2)) in case 3, which was further confirmed to originate from p13.3p11.2 of chromosome 17 by CNV‐seq. CMA revealed arr1q43q44 (238923617–246964774) × 1(8.04 Mb) in case 8 with a negative result of chromosome karyotype. WES revealed that 2 of 5 cases with negative results of karyotyping and CNV‐seq or CMA carried pathogenic genes ALDH7A1 and ARID1B. Conclusion Parallel genetic tests showed that CNV‐seq and CMA are able to identify additional, clinically significant cytogenetic information of CCA compared to karyotyping; WES significantly improves the detection rate of genetic etiology of CCA. For the patients with a negative results of CNV‐seq or CMA, further WES test is recommended.

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An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum

Cited by 15 publications

References 24 publications

Development and plasticity of the corpus callosum

Development and plasticity of the corpus callosum

Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

Prenatal genetic testing in 19 fetuses with corpus callosum abnormality

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